Events
2023 RARE Advocacy Summit
September 19, 2023 – September 21, 2023
Register now Watch Live StreamConnect. Inspire. Learn
Each year, Global Genes convenes one of the world’s largest gatherings of rare disease patients, caregivers, advocates, healthcare professionals, researchers, partners, and allies at the RARE Advocacy Summit.
This is an unparalleled opportunity to forge meaningful connections with others in the rare disease community for future collaboration. Sessions provide attendees with insights about the latest in rare disease innovations, best practices for advocating on an individual and organizational level, and actionable strategies they can take home and implement immediately to accelerate change. This year, the Summit will be held in San Diego California. Join us for networking, learning and inspiration.
Who Should Attend?
* Patient advocacy group leaders
* Rare disease patients
* Caregivers
* Rare disease advocates
2023 Speakers
More speakers for the 2023 RARE Advocacy Summit will be added, so check back for the newest additions!
Kim Aldinger
Seattle Children’s Hospital
Kim Aldinger
Seattle Children’s Hospital
Assistant Professor of Pediatrics
Seattle Children’s Hospital
Session: I’m an Expert, Too, Communicating with HCPs
Dr. Aldinger is an Assistant Professor in the departments of pediatrics and neurology at the University of Washington and a Principal Investigator at Seattle Children’s Research Institute. She has over 20 years of research experience studying how genes and cells cooperate to regulate brain development and how their changes lead to neurodevelopmental disorders. She is also a twin mom, a rare mom, and an advocate for all-abilities.
Brian Altounian
Just Two Dads Podcast
Brian Altounian
Just Two Dads Podcast
Brian Altounian
Financial Planner and Special Needs Dad
Just Two Dads Podcast
Session: Financial Support for Your Community Members
Brian’s professional career has been in the service of others – creating opportunities for unprecedented growth and wealth creation. He focuses on finance, operations and administration for businesses of all sizes and helped companies raise money from private and public offerings. He also created opportunities for the “bottom 99%” investors who don’t normally get access to IPO investments. His personal mission has always been to connect people with amazing opportunities that create a pathway to achieving their dreams and their goals.
Carole Bakhos
Jordan’s Guardian Angels
Carole Bakhos
Jordan’s Guardian Angels
Carol Bakhos
Executive Director
Jordan’s Guardian Angels
Session: It’s All of Us Against the Disease: The Future of Collaboration and Disease Community Consortium
Carole Bakhos embarked on the rare diseases journey when her daughter was diagnosed, a decade ago, with a genetic mutation in the PPP2R5D gene, which has since been named as Jordan’s Syndrome (JS). Today, she stands as the Executive Director of Jordan’s Guardian Angels, a nonprofit organization at the forefront of pioneering research in JS and its associated conditions.
Wendy Benson
Rady Children’s Hospital
Wendy Benson
Rady Children’s Hospital
Wendy Benson
Chief Strategy and Innovations Officer
Rady Children’s Hospital
Session: Why Genetic and Genomic Testing is Key to Increased Diagnosis
Wendy Benson is a business strategy and technology executive specializing in unlocking the power of partnership to create shared, exponential value. Since 2016, she has served as the Chief Strategy and Innovation Officer at Rady Children’s Institute for Genomic Medicine. Her career extends across large multinational industry leaders where she served in a variety of executive roles overseeing strategic planning, product marketing, clinical market development and business development.
Alexandre Bétourné
C-path
Alexandre Bétourné
C-path
Alexandre Bétourné
Scientific Director for Rare Diseases Cures Accelerator
C-path
Session: Crafting a Data Sharing Strategy
Alexandre Bétourné, Ph.D., Pharm.D., is Executive Director for the Rare Disease Cures Accelerator-Data and Analytics Platform and previously served as its Scientific Director. He holds both a PhD and a PharmD from the University of Toulouse in France, has three patents, and has written multiple papers that intersect with several different rare disease areas. Before C-Path, he led a team of senior U.S. scientists, CMC and regulatory consultants at a small company developing therapies for ALS.
Ravi Bhargava, MD
Roche
Ravi Bhargava, MD
Roche
Ravi Bhargava, MD
Global Medical Director of AI and Emerging Tech Collaborations- Mergers, Acquisitions, Partnering
Roche
Session: Welcome and Open Science Data Challenge
Dr. Bhargava is a Physician-Scientist and Global Medical Director at Hoffmann La-Roche, where he leads initiatives in AI, Digital Health, Emerging Technology, and External Collaborations. With over two decades of in healthcare, science, and business leadership, Ravi is a pioneer in developing patient-centric digital health programs, and establishing global standards. He fosters impactful partnerships and digital innovation in evidence generation and drug development, all while addressing issues of access, equity, and quality of care.
Erin Bradshaw
Patient Advocate Foundation
Erin Bradshaw
Patient Advocate Foundation
Erin Bradshaw
Chief of Mission Delivery
Patient Advocate Foundation
Session: Financial Support for Your Community Members
Erin Bradshaw, a 25-year veteran at Patient Advocate Foundation, is a dedicated professional driven by a passion for helping others and expertise in patient advocacy. As Chief of Mission Delivery, Erin ensures effective nationwide case management services, optimizing efficiency and fostering a culture of learning. She forges collaborations, advises partners, and drives actions for improved healthcare while upholding core values of passion for patients, equity, kindness, and accountability.
Lea Ann Browning-McNee, MS
Reagan-Udall Foundation
Lea Ann Browning-McNee, MS
Reagan-Udall Foundation
Lea Ann Browning-McNee, MS
Director of Communications and Stakeholder Engagement
Reagan-Udall Foundation
Session: 7 Ways to Engage the FDA
Lea Ann Browning-McNee translates complex science, research and policy into practical, meaningful stories relevant to the Reagan-Udall Foundation’s stakeholders. Before joining the Foundation, Lea Ann helped launch BrainFutures, a national nonprofit focused on promoting breakthroughs in brain health, and was instrumental in bringing Mental Health First Aid to the United States during her tenure at the National Council for Behavioral Health. She also served in senior leadership positions at the Mental Health Association of Maryland and the National Mental Health Association. She holds a bachelor’s degree in Communications and a master’s degree in Writing from Towson University.
Alex Burgin, PhD
Broad Institute of MIT and Harvard
Alex Burgin, PhD
Broad Institute of MIT and Harvard
Alex Burgin, PhD
Director, Center for the Development of Therapeutics
Broad Institute of MIT and Harvard
Session: Small Molecules, Drug Repurposing, Biologics, Expert Office Hours Expert Office Hours
Alex is the Senior Director at the Center for the Development of Therapeutics at the Broad Institute of Harvard and MIT. He leads a group of professional scientists that translate the unique insights in biology emerging from the Broad community into potential therapeutics. His team is also deeply committed to repurposing therapeutics to treat rare diseases
Jamie Korin Capal
UNC Chapel Hill, Carolina Institute for Developmental Disabilities (CIDD)
Jamie Korin Capal
UNC Chapel Hill, Carolina Institute for Developmental Disabilities (CIDD)
Jamie Korin Capal
Associate Professor of Pediatrics and Neurology
UNC Chapel Hill, Carolina Institute for Developmental Disabilities (CIDD)
Sessions:
- The Power of Partnering: Boston Children’s Hospital
- Birds of a Feather
Dr. Capal is an Associate Professor of Pediatrics and Neurology at the University of North Carolina at Chapel Hill and the Carolina Institute for Developmental Disabilities (CIDD). She is Co-Founder and Co-Director of the CIDD Clinical Trials Program. Her clinical and research focus is in neurogenetic conditions resulting in neurodevelopmental disabilities across the lifespan and developing clinical trials to identify, characterize, and develop preventative, disease modifying treatments.
Caroline Cheung-Yiu
Community of Undiagnosed Rare and Extraordinary (CURE)
Caroline Cheung-Yiu
Community of Undiagnosed Rare and Extraordinary (CURE)
Caroline Cheung-Yiu
Founder
Community of Undiagnosed Rare and Extraordinary (CURE)
Session: Coping with the Challenges of Rare Disease – With or Without a Diagnosis
Caroline is founder of the support group, Community of Undiagnosed Rare and Extraordinary (CURE). Connecting families lacking a diagnosis for their child. Empowering them with resources to forge ahead in their diagnostic odyssey. 12 years passed before Caroline’s son was diagnosed with the very rare neurodegenerative disease, IRF2BPL Disorder. Her family is part of an award-winning documentary film “Undiagnosed” that spotlights the struggles of undiagnosed patients and their families.
Maya Chopra, MBBS, FRACP
Harvard Medical School
Maya Chopra, MBBS, FRACP
Harvard Medical School
Maya Chopra, MBBS, FRACP
Assistant Professor
Harvard Medical School
Session: The Power of Partnering: Boston Children’s Hospital
Dr. Chopra is a physician-researcher focused on the discovery and delineation of rare monogenic neurodevelopmental syndromes. She serves as Director of Translational Genomic Medicine at the RSZ-TNC at Boston Children’s Hospital and Assistant Professor at Harvard Medical School. Dr. Chopra leverages her expertise in understanding the underpinning genetic mechanisms and clinical trajectories of rare neurodevelopmental disorders to evaluate suitability for therapeutic intervention.
Ryan Colburn
odimm inc
Ryan Colburn
odimm inc
Ryan Colburn
Principal
odimm inc
Sessions:
Why Genetic and Genomic Testing is Key to Increased Diagnosis
It’s All of Us Against the Disease
Ryan has some genetic variants, just like everyone else. In 2015 he learned that some of his variants are associated with a rare metabolic disorder. His professional background is in development, engineering and operations management. He’s a driven student of process, and applying what he’s learned along the way to contribute to rare disease. He’s passionate about shifting the view of patient as “subjects” to participants, collaborators, and partners who can help to find the most effective ways to accelerate progress.
Sati Cooper-McCann
EveryLife Foundation
Sati Cooper-McCann
EveryLife Foundation
Rare Gem, Civil Rights Legislative, Youth Ambassador
EveryLife Foundation
Session: Activating Advocacy for Kids, Teens and Youth
Raw gem faceting involves shaping and polishing to refract the light inside to maximize a stone’s brilliance and fire. Her dispersion of light and luster began at 7 in self-awareness, self-efficacy, and community-building. This rare gem is a force for equitable and legislative good in rare healthcare ‘on the Hill’ and beyond. Advocacy has no age barrier. Come learn about her excavation from local to global civil rights for rare diseases, as part of our rare collection so we may radiate together.
Chandler Crews
The Chandler Project
Chandler Crews
The Chandler Project
Chandler Crews
Founder
The Chandler Project
Sessions:
Data Collection to Improve Outcomes
Working Groups
Patient advocate with achondroplasia (dwarfism/skeletal dysplasia). Devoted to engaging with patients and caregivers, with industry professionals to bring awareness to research and treatment options for those living with skeletal dysplasias.
Lindsey Cundiff
EveryLife Foundation
Lindsey Cundiff
EveryLife Foundation
Lindsey Cundiff
Associate Director of Patient Engagement
EveryLife Foundation
Session: Activating Advocacy for Kids, Teens and Youth
Lindsey Cundiff is a dedicated member of the rare disease community and is primarily focused on patient advocacy, engagement and youth programming (including YARR, #RAREis Scholarship Fund, Mentorship Advocacy program and the YA Rare Coalition). She has worked at the EveryLife Foundation for Rare Diseases since 2016 and within just a few short weeks after her start date (and after several years of a diagnostic journey), her father was diagnosed with the rare disease, Myasthenia Gravis.
Tom D’Amato
Horizon Therapeutics
Tom D’Amato
Horizon Therapeutics
Tom D’Amato
Director of Patient Advocacy
Horizon Therapeutics
Session: Supporting Your Community’s Mental Health and Possibly LIving Rare
As a rare dad, Tom understands the challenges of caring for someone living with a rare disease first-hand. In his current role, he acts as a catalyst by combining his personal experience to his professional career to serve the unmet needs of the rare and chronic disease communities. By empowering, enabling and supporting patients and their families, Tom is dedicated to providing access to a diverse array of programs, regardless of where they are in their journey.
Mark Dant
Ryan Foundation for Rare Disease Research
Mark Dant
Ryan Foundation for Rare Disease Research
Mark Dant
Founder and Executive Director
Ryan Foundation for Rare Disease Research
Session: Working Nicely in the Same Sandbox; How Patient Groups Can Work Together, Not Against Each Other
Mark Dant is the Founder and Executive Director of the Ryan Foundation, the former Board Chair of the of the Washington DC based EveryLife Foundation, and former President and CEO of the National MPS Society. Mark and his family founded the Ryan Foundation in 1992 shortly after their only child Ryan was diagnosed with MPS I. The Dant family’s journey has been documented on CBS 60 Minutes, the Today Show, CNN, Biography Magazine, and Readers Digest in 13 languages around the world.
Kendall Davis
ICON plc
Kendall Davis
ICON plc
Kendall Davis
Director of Advocacy and Engagement
ICON plc
Session: Becoming Clinical Trial Ready
Kendall Davis is a Patient Advocacy and Engagement Strategist; specializing is rare disease clinical drug development. She is a passionate rare disease advocate dedicated to empowering patients, advocacy organizations, researchers, and industry, by developing new innovative strategies to meet advocacy, engagement, educational and business needs to catalyze rare disease drug development. Kendall serves as a Board Member of Team Telomere and holds a master’s degree in public health.
Michelle Davis
International FOP Association
Michelle Davis
International FOP Association
Executive Director
International FOP Association
Session: Expanding Your Global Reach
The majority of my career has been spent in patient advocacy, including roles at the National Kidney Foundation, Polycystic Kidney Disease Foundation, and the International Fibrodysplasia Ossificans Progressiva (FOP) Association. In addition to managing a team of seven, I work closely with academic and industry researchers on real-world evidence programs and clinical studies and trials. I also work on awareness programs for health care professionals and advocacy initiatives.
Daniel DeFabio
Global Genes
Daniel DeFabio
Global Genes
Daniel DeFabio
Director, Community Engagement
Global Genes
Sessions:
I’m an Expert, Too: Communicating with HCPs
Grieving Diagnosis, Lack of Diagnosis and Loss
At the age of 12 months Daniel’s first child Lucas was diagnosed with the rare disease Menkes Syndrome. After adjusting his expectations of what raising a child might look like Daniel began to tell Lucas’ story with a short documentary. That film led to Daniel co-founding DISORDER: The Rare Disease Film Festival and later The Disorder Channel, both dedicated to spreading awareness for patient families facing any of the more than 7,000 rare diseases.
Maria Della Rocca, MS, PMP
Global Genes
Maria Della Rocca, MS, PMP
Global Genes
Maria Della Rocca, MS, PMP
Senior Director, Support & Education Programs
Global Genes
Session: Why Genetic and Genomic Testing is Key to Increased Diagnosis
Maria is the Senior Director of Support & Education Programs at Global Genes focusing on aiding rare disease individuals and caregivers throughout their diagnostic journey. With 20+ years of experience, she understands their challenges and provides comprehensive support, aiming to shorten diagnosis time and achieve health equity. Maria is a bilingual genetic counselor and collaborative project manager. Prior to joining Global Genes, she worked at the Genetic and Rare Diseases (GARD) Information Center, a project funded by the National Center for Advancing Translational Sciences (NCATS) at the NIH.
Scott Demarest, MD
Children’s Hospital Colorado
Scott Demarest, MD
Children’s Hospital Colorado
Scott Demarest, MD
Associate Professor
Children’s Hospital for Colorado
Session:
- Finding Your Flock: Emerging Opportunities to Accelerate ResearchThrough Disease Community Collaboration
- Birds of a Feather, Power of Partering Children’s Colorado, Scientific Advisory Board
Dr. Scott Demarest is an associate professor in the Department of Pediatrics, Division of Neurology. He is board certified in Child Neurology and Epilepsy. His clinical practice and research focus on the evaluation and treatment of neurogenetic conditions. This includes clinical trials for novel therapeutics, natural history studies and the development of improved outcome measures for neurogenetic conditions.
Aditi Desai, MPH, CPH
CIRM
Aditi Desai, MPH, CPH
CIRM
Aditi Desai, MPH, CPH
Community Outreach Manager
CIRM
Session: Expert Office Hours 1 & 2
As the Community Outreach Manager for the California Institute for Regenerative Medicine (CIRM), Aditi works closely with community-based organizations and oversees many programs aimed at reaching diverse communities. Starting as a Peace Corps volunteer working on infectious disease prevention and educating in rural communities in Uganda, to working on California’s Vaccinate ALL 58 Campaign, Aditi understands the need to listen to the community and work in support of their needs. She has a BA in Psychology & Biochemistry from Mercer University and an MPH in Global Health Practice & Epidemiology from the University of South Florida.
Yssa DeWoody, PhD
Ring14 USA
Yssa DeWoody, PhD
Ring14 USA
Yssa DeWoody, PhD
Co-Founder, Treasurer, Director of Research
Ring 14 USA
Sessions:
Developing Scientific Expertise to Drive Research Strategy
The Power of Partnering Colorado Children’s
Yssa DeWoody, PhD, is the Cofounder, Director of Research, and past President of Ring14 USA, a non-profit focused on improving the lives for those impacted by neurodevelopmental disorders on the 14th chromosome. This work is a labor of love motivated by her daughter, Marie, who was born with the ultra-rare Ring Chromosome 14 Syndrome. Yssa is a true believer in collaboration as actualized by her commitment to several consortiums including Ring14 International (Cofounder and Past President), the Rare Epilepsy Network (ex officio Chair), Epilepsy Leadership Council, Epilepsy Learning Healthcare Systems, and the Commission for Neurodevelopmental CNVs (founding partner).
Kira Dies
Rosamund Stone Zander Translational Neuroscience Center, BCH
Kira Dies
Rosamund Stone Zander Translational Neuroscience Center, BCH
Kira Dies
Executive Director
Rosamund Stone Zander Translational Neuroscience Center, BCH
Session:
The Power of Partnering: Boston Children’s Hospital
Birds of a Feather
Kira received a ScM degree in Genetic Counseling in 2003 from the Johns Hopkins Bloomberg School of Public Health. She currently serves as the Executive Director of the Rosamund Stone Zander Translational Neuroscience Center at Boston Children’s Hospital. She also serves on the Board of Directors for the CureAP4 advocacy organization, the Professional Advisory Board for the Tuberous Sclerosis Alliance, the Clinical Ethics Board and Neuroscience Family Advisory Council at Boston Children’s.
Suzanne Edison
CURE JM Foundation
Suzanne Edison
CURE JM Foundation
Suzanne Edison
Mental Health Coordinator and International Family Support
CURE JM Foundation
Session: Grieving Diagnosis, Lack of Diagnosis and Loss
Bio: Suzanne Edison writes often about illness, healing, medicine and art. Her poetry book, Since the House Is Burning, was published in 2022. Her chapbook, The Body Lives Its Undoing, was published in 2018. Poetry can be found in: Michigan Quarterly Review; JAMA; HEAL; SWWIM Every Day; Intima: A Journal of Narrative Medicine; and in several anthologies including: The Healing Art of Writing, Volume One. Suzanne is a Hedgebrook Fellow and teaches in Seattle and through UCSF in San Francisco.
Patti Engel
Engage Health
Patti Engel
Engage Health
Patti Engel
CEO
Engage Health
Session: 7 Ways to Engage the FDA
Patti’s background in pediatric oncology nursing, plus her extensive experience in complex qualitative research, caregiver/patient identification, and clinical trial recruitment prove useful to clients as they work to advance their programs in rare and complex conditions. As organizations work to incorporate patient voice and lived experience into drug development, Engage Health’s work has helped organizations and regulatory authorities better understand needs for purposes of endpoint selection and trial design.
Wendy Erler
Alexion Pharmaceuticals
Wendy Erler
Alexion Pharmaceuticals
Lisa Facciolla
US Hereditary Angioedema Association
Lisa Facciolla
US Hereditary Angioedema Association
Lisa Facciolla
Community Engagement Specialist
US Hereditary Angioedema Association
Session: Activating Advocacy for Kids, Teens and Youth
Lisa Facciolla is an HAEA Patient Advocate specializing in Children and Youth Programs. Lisa was diagnosed with hereditary angioedema at the age of 12. She has a degree in Sociology with a concentration in children, youth, and families. For the past 11 years, Lisa has passionately served as a youth program administrator within the non-profit sector. Lisa is committed to developing and implementing dynamic programs that listens to and meets the needs of those who benefit from them.
Nasha Fitter
Invitae
Nasha Fitter
Invitae
Nasha Fitter
VP Real World Evidence and Ciitizen Platform
Invitae
Session: Data Collection to Improve Outcomes
Nasha Fitter is a leader in the rare disease space through her work on utilizing real world evidence to accelerate treatments. She is also the mother of a child with the rare neurological condition, FOXG1 Syndrome, and co-founded and leads the FOXG1 Research Foundation. Nasha serves on the board for the ACMG Foundation for Genetic and Genomic Medicine and has an MBA from the Harvard Business School.
Matt Flesch
Horizon Therapeutics
Matt Flesch
Horizon Therapeutics
VP, Communications and Patient Advocacy
Horizon Therapeutics
Session: Champions of Hope Winner Recognition
As Vice President of Patient Advocacy and Communications for Horizon Therapeutics, Matt Flesch leads a diverse, multi-talented team to create programs and partnerships to build a more engaged patient community. This includes supporting the efforts of patient organizations who are working to raise awareness, provide education, ensure equitable access and advance the care of people living with rare, autoimmune and severe inflammatory diseases. Matt’s side hustle is volunteer work as board chairman for the Pediatric Epilepsy Surgery Alliance, an organization that helps kids reach their full potential after up to half the brain is removed or disconnected to stop drug-resistant seizures.
Susannah Fox
Author and Digital Health Expert
Susannah Fox
Author and Digital Health Expert
Author and Digital Health Expert
Session: Rebel Health: How Rare Disease Communities Lead the Revolution
Susannah Fox is a health and technology strategist. Her book, Rebel Health: A Field Guide to the Patient-Led Revolution in Medical Care, will be published in February 2024 by MIT Press. She is a former Chief Technology Officer for the U.S. Department of Health and Human Services, where she led an open data and innovation lab. She has served as the entrepreneur-in-residence at the Robert Wood Johnson Foundation and she directed the health portfolio at the Pew Research Center’s Internet Project.
Albert Freedman, PhD
Freedman Consulting
Albert Freedman, PhD
Freedman Consulting
Albert Freedman, PhD
President
Freedman Consulting
Sessions:
- Coping with the Challenges of Rare Disease – With or Without a Diagnosis
- Supporting Your Community’s Mental Health
- Working Groups on Foundation Strategy
Albert Freedman, PhD, is a psychologist in independent practice, serving clients in 40 states. Dr. Freedman provides counseling support for individuals and families affected by rare disease. He serves as a consulting psychologist to rare disease advocacy organizations and biopharmaceutical companies globally. Dr. Freedman speaks widely on the topic of mental health and rare disease. Al’s son, Jack, lived with Spinal Muscular Atrophy (SMA) for 26 years.
Simon Frost
Tiber Capital Group
Simon Frost
Tiber Capital Group
Simon Frost
CEO
Tiber Capital Group
Session: Data Collection to Improve Outcomes, Expert Office
Simon Frost is the CEO of Tiber Capital Group. In 2017, Simon’s daughter Annabel was diagnosed with an ultra-rare neurodegenerative disease called Alternating Hemiplegia of Childhood. Since then he has devoted much of his time to finding ways to accelerate the path towards therapies for rare diseases, and now serves on the Cures Acceleration Network Review Board at NCATS, The Global Genes/Rare-X and Uncommon Cures boards, and is the President of Cure AHC and Hope For Annabel – AHC charities.
Matthew Fuller
Ultragenyx
Matthew Fuller
Ultragenyx
Matthew Fuller
Executive Director, Gene Therapy Research
Ultragenyx
Session: Gene Therapy/Gene Editing, Expert office hours
Matthew Fuller is the Executive Director of Vector Platform Research at Ultragenyx Pharmaceutical within the Ultragenyx Gene Therapy Research team. He is leading the Producer Cell Line (PCL) and Vector Engineering (VE) teams, both of which perform program and platform research to continually optimize and invest in Ultragenyx’s gene therapy platforms and programs. Specifically, the PCL team focuses on generation, characterization, and improvement of the Pinnacle producer cell line platform to max.
Ron Garber
The Yaya Foundation for 4H Leukodystrophy
Ron Garber
The Yaya Foundation for 4H Leukodystrophy
Ron Garber
Co-Founder and President
The Yaya Foundation for 4H Leukodystrophy
Session: Developing Scientific Expertise to Drive Research Strategy
Ron is a dad, med-tech mergers and acquisitions lawyer, and rare disease advocate. After his daughter Yaya died from complications caused by 4H (POLR3-Related) Leukodystrophy, Ron co-founded the Yaya Foundation for 4H Leukodystrophy to provide educational and emotional support for families affected by 4H and accelerate discovery of therapies and a cure. Ron lives in Minneapolis with his wife June, and living children, Ilan and Yasmin.
Nicole Glenn, MD
Pediatrician
Nicole Glenn, MD
Pediatrician
Nicole Glenn is a pediatrician, rare disease advocate, and mother of two children. Her 5-year-old daughter, Rosie, has rare neurodevelopmental disorder, caused by HNRNPH2 mutation. Dr. Glenn serves as a delegate for The Yellow Brick Road Project, the parent-lead foundation supporting individuals living with HNRNPH2 mutations. She earned her bachelor’s degree in Physiology at the University of Colorado, and her medical degree at Rush University. She completed her pediatric residency at Stanford Children’s Hospital and practices primary care pediatrics in Northern California.
Mike Graglia
Syngap Research Fund
Mike Graglia
Syngap Research Fund
Mike Graglia
Managing Director
Syngap Research Fund
Sessions:
Yoga
Developing Sustainable Funding Models for Your Organization
Nathan Grant
Project Alive
Nathan Grant
Project Alive
Nathan Grant
Board Member
Project Alive
Session: Coordinating Complex Care
Nathan Grant is the twin brother of Nik Grant, who has a rare condition called MPS II (also known as Hunter syndrome). From Cincinnati, OH, Nathan is a second-year medical student at Harvard Medical School. He is also the Founder and President of Siblings with a Mission and serves on the Board of Directors of Project Alive. Inspired by his brother, Nathan hopes to help improve outcomes for people with rare diseases and their families through clinical care, research, and advocacy.
Tiara Green
Accessia Health
Tiara Green
Accessia Health
Tiara Green
Interim CEO
Accessia Health
Sessions:
Financial Support for Your Community Members
Working Groups on Buiding Your Foundation’s Strategy
In June 2022, Tiara was appointed as Accessia Health’s Interim CEO. Her in-depth prior experiences include working with state health departments as well as national nonprofit organizations spanning a variety of focuses including health insurance enrollment, diabetes, sickle cell disease, preconception health, and overall wellness.
Tiara’s visionary mindset and her decade of organizational knowledge assisted Accessia Health in growing its educational offerings to patients.
Lisa Zola Greer
Philanthropy 451
Lisa Zola Greer
Philanthropy 451
Lisa Zola Greer
Author
Philanthropy 451
Session: Developing Sustainable Funding Models for Organizations
Lisa Zola Greer is a fundraising coach, nonprofit changemaker, major donor, and author of the bestselling book “Philanthropy Revolution”. Lisa is on a mission to “Save Giving” by providing a clear path to success, supported by data, statistics, and interviews. With her help and direction, the nonprofit world will see its donors engaged and energized, their organizations sustainable and with increased impact, and a more honest philanthropic culture.
Rachel Groth, PhD
BridgeBio
Rachel Groth, PhD
BridgeBio
Rachel Groth, Ph.D., is currently Vice President and Head of Neuroscience Research at BridgeBio in Palo Alto, CA. She has more than 10 years’ experience leading drug discovery and early development efforts in industry across diverse therapeutic areas (e.g., neuroscience, immunology, renal, and oncology) and drug modalities (e.g., small molecules, monoclonal antibodies, and antisense oligonucleotides). Before joining BridgeBio, Rachel held roles of increasing responsibility at Pfizer and Biogen. Rachel earned her B.A. in Biology and Neuroscience from Macalester College, her Ph.D. in Neuroscience from the University of Minnesota, and completed her postdoctoral training in Molecular and Cellular Physiology at Stanford University.
Alaa Hamed, MD, MPH, MBA
Sanofi
Alaa Hamed, MD, MPH, MBA
Sanofi
Global Head of Medical for Rare Diseases and Rare Blood Disorders
Sanofi
Session: How Companies Decide Which Therapies to Pursue
Dr. Hamed is the Global Head of Medical for Rare Disease. He and his team are responsible for expanding the strong legacy of Medical Leadership in Sanofi Genzyme Rare Disease, focusing on new evidence generation strategies, providing medical insights to product development, and ensuring effective and meaningful medical engagement with Rare Disease stakeholders around the world.
Chris Hart, PhD
Creyon Bio
Chris Hart, PhD
Creyon Bio
Chris Hart
CEO and President
Creyon Bio
Session: RNA Therapies: ASO, MRNA, siRNA
Chris is an experienced leader of interdisciplinary teams with decades of experience leveraging computational methods, machine learning and AI, and deep biological insights to solve problems. Prior to creating Creyon Bio, he built the functional genomics department at Ionis Pharmaceuticals. Chris earned his PhD in Biology and Computer Science Applications in Biotechnology from the California Institute of Technology and conducted post-doctoral training at Yale University.
Maureen Hart
Creyon Bio
Maureen Hart
Creyon Bio
Maureen Hart
Director, Patient Advocacy, Policy, and External Engagement
Creyon Bio
Session: Working Groups on Building Your Foundation’s Strategy
Maureen is a public policy, patient advocacy, and communications leader focused on structuring biomedical research collaborations with engagement of multiple stakeholders, accelerating biomedical innovation, and ensuring ethical conduct of research. Prior to Creyon, she was a strategic advisor with Global Genes leading efforts to connect rare disease researchers and patient advocates. She also serves as a Board Member with Cure VCP Disease.
Jenna Heilman
Hungtington’s Disease Youth Organization
Jenna Heilman
Hungtington’s Disease Youth Organization
Jenna Heilman
Executive Director
Hungtington’s Disease Youth Organization
Session: Activating Advocacy for Kids, Teens and Youth
As the Executive Director of HDYO, Jenna leads the mission to help support, educate and empower young people (35 and under) and their families impacted by HD. She believes the best way to make an impact is through building relationships to understand how we can make a difference together while bringing hope and inspiration to the HD community. She previous advocated for the brain tumor community as an executive director at Head of the Cure Foundation.
Michele Herndon
Undiagnosed Diseases Network
Michele Herndon
Undiagnosed Diseases Network
Michele Herndon
Program Director, Patient Navigation Program
Undiagnosed Diseases Network
Session: Managing Life Without a Diagnosis
Michele Herndon is a veteran pediatric nurse and a rare-disease mom who, co-founded The Mitchell and Friends Foundation in 2020. The Foundation exists to raise awareness of and search for cures for Mitchell Syndrome, an ultra-rare neurological disease that took the life of their 19-year-old son, Mitchell. Michele also volunteers with the Undiagnosed Diseases Network site at Washington University School of Medicine in St. Louis, ensuring the participants are aware of available resources.
Melissa Hioco
STXBP1 Foundation
Melissa Hioco
STXBP1 Foundation
Melissa Hioco
Co-Founder & Director of Development
STXBP1 Foundation
Session: The Power of Partnering: Colorado Children’s Hospital
Melissa Hioco lives in Northern California with her husband and their 17 year old son Alex, who lives with an STXBP1 disorder, a rare neurodevelopmental epilepsy. She is an education professional who uses her skills to educate and advocate for STXBP1 and the rare disease community. Melissa joined forces with other parents to co-found the STXBP1 Foundation, and now serves as the Director of Development. She truly believes that meaningful partnerships and collaboration are the key to accelerating therapies across rare diseases.
Tom Hume
Cure JM Foundation
Tom Hume
Cure JM Foundation
Tom Hume
Co-Founder
Cure JM Foundation
Sessions:
Develop a Long-term Growth Strategy
Working Groups on Building Your Foundation’s Strategy
Tom co-founded Cure JM Foundation after learning his son Parker (then age 4) was battling juvenile dermatomyositis. Tom and his wife Shari launched Cure JM to find a cure and better connect patients and their families with the needed resources. They expanded Cure JM over the past 20 years., raising over $17MM for research. Tom has degrees in Advertising and Radio-TV-Film from the University of Wisconsin and a master’s degree from the Annenberg School at USC.
Adam Johnson
Rare Disease DadVocate
Adam Johnson
Rare Disease DadVocate
Adam Johnson
Rare Disease DadVocate
Session:
Living Rare – With or Without a Diagnosis
Adam is a rare disease patient & self-proclaimed DadVocate. After a life-altering diagnosis in 2019, he lost his career in education. Feeling alone, afraid, & helpless, he sought connection with others through advocacy, social media (@RareDiseaseDad), & a website/blog (RareDiseaseDad.com). Adam also hosts a podcast series called Parents As Rare & runs a support group for men with mitochondrial disease. His motivation stems from the desire to own his story while supporting others along the way.
Arik Johnson, PsyD
HDSA
Arik Johnson, PsyD
HDSA
Arik Johnson, PsyD
Chief Mission Officer
HDSA
Session: Expanding Your Global Reach
Arik Johnson, PsyD is the Chief Mission Officer at the Huntington’s Disease Society of America (HDSA), overseeing all Mission programs and services. He is a licensed clinical psychologist who previously worked with people and families affected by Huntington’s disease at the HDSA Center of Excellence at the University of California Los Angeles. In addition, he provided clinical services in the UCLA Movement Disorder Program to people living with Parkinson’s disease, atypical Parkinsonian disorder.
Lisa Kadyk, PhD
CIRM
Lisa Kadyk, PhD
CIRM
Lisa Kadyk
Associate Director of Therapeutics Development
CIRM
Session: Expert Office Hours 1 & 2
As Associate Director of Therapeutics Development at CIRM, Lisa manages a portfolio of clinical, IND-enabling and translational stage awards to grantees working on cell and gene therapies in multiple disease areas, including many rare diseases. Prior to CIRM, Lisa worked in the biotech using genetic and cell biological approaches for target identification and validation and drug discovery at Exelixis and Axys (later Celera). Lisa has a BA in Biology from Pomona College and a PhD in Genetics from the University of Washington, where she trained with Dr. Lee Hartwell. She did postdoctoral training at the University of Wisconsin with Dr. Judith Kimble.
Jeffrey Kaufman
Adenoid Cystic Carcinoma Research Foundation
Jeffrey Kaufman
Adenoid Cystic Carcinoma Research Foundation
Jeffrey Kaufman
Executive Director
Adenoid Cystic Carcinoma Research Foundation
Session: Preclinical Research: Why and When to Invest
As Executive Director of ACCRF, Jeff oversees a research program spanning model development, target discovery and validation, drug screening and clinical trial design. He has served on the NIH Council of Councils, the NIDCR Council, the NCI Council of Research Advocates, and the ASCO Cancer Research Committee. Prior to co-founding ACCRF with his wife who was diagnosed with ACC, Jeff researched and managed emerging markets securities at Salomon Brothers, MFS Investments and Putnam Investments.
Walt Kowtoniuk, PhD
Third Rock Ventures
Walt Kowtoniuk, PhD
Third Rock Ventures
Parvathy Krishnan
Krishnan Family Foundation
Parvathy Krishnan
Krishnan Family Foundation
Parvathy Krishnan
CEO
Krishnan Family Foundation
Session: Coordinating Complex Care
Parvathy is an accomplished leader with experience managing teams, building strategic partnerships and breaking barriers in patient advocacy. Parvathy serves on national and international boards and working groups specializing in DEI focused patient advocacy. She serves as advisory board member of the UDN Foundation and Team Telomere. She also serves as the Executive Director for the Krishnan Family Foundation focused on research, scientific advancement and patient/family support for CMMRD.
Paul Kruszka, MD, MPH, FACMG
GeneDx
Paul Kruszka, MD, MPH, FACMG
GeneDx
Paul Kruszka, MD, MPH, FACMG
Chief Medical Officer
GeneDx
Session: Why Genetic and Genomic Testing is Key to Increased Diagnosis
Paul Kruszka, MD, MPH, FACMG, was appointed as Chief Medical Officer of GeneDx, a leader in genomic testing and analysis in April 2021. At GeneDx, Paul is responsible for leading the medical affairs team, clinical research in rare diseases and promoting access to genomic medicine. Prior to working at GeneDx, Paul spent a decade at the National Institutes of Health conducting genomic research and taking care of individuals with rare genetic diseases.
Neil Kumar, MS, PhD
BridgeBio Pharma
Neil Kumar, MS, PhD
BridgeBio Pharma
CEO and Founder
BridgeBio Pharma, Inc.
Session: How Companies Decide Which Therapies to Pursue
Dr. Neil Kumar, Ph.D., is the CEO and Founder of BridgeBio Pharma, Inc. a company working to create life-altering medicines that target well-characterized genetic diseases at their source. Before founding BridgeBio in 2015, Dr. Kumar was a principal at Third Rock Ventures, supporting and managing portfolio companies, while also focusing on new company formation and due diligence. During his time at Third Rock, Dr. Kumar served as the interim vice president of business development and operations
Daniel Levine
Levine Media Group
Daniel Levine
Levine Media Group
Rob Long
Uplifting Athletes
Rob Long
Uplifting Athletes
Rob Long
Executive Director
Uplifting Athletes
Session: Develop a Long-Term Growth Strategy
Rob, a former All-American punter and rare brain cancer survivor, is the Executive Director of Uplifting Athletes. His journey from a diagnosis in college to a 16-month recovery has fueled his passion for helping others. With a degree from Syracuse University and a deep commitment to the rare disease community, Rob’s leadership and resilience inspire others. He resides in suburban Philadelphia with his wife and two dogs.
Jeanette McCarthy, MPH, PhD
Precision Medicine Advisors
Jeanette McCarthy, MPH, PhD
Precision Medicine Advisors
Jeanette McCarthy, MPH, PhD
Founder
Precision Medicine Advisors
Jeanette McCarthy is a genetic epidemiologist with over 30 years of experience developing products and services that advance the field of genomics and precision medicine. She is an internationally-recognized leading educator, providing technical trainings on clinical genomics to learners around the world and helping numerous organizations educate their workforce and customers to be able to effectively develop and utilize genetic testing in clinical practice.
Kristin McKay
Project Alive
Kristin McKay
Project Alive
Kristin McKay
Executive Director
Project Alive
Session: Pediatric to Adult Healthcare Transition: The Rare Disease Experience
Kristin McKay is the Executive Director of Project Alive, a Hunter syndrome research and advocacy organization. Her passion for the Hunter syndrome community began with her late brother. This drive was further ignited at the time of her son’s diagnosis. She joined Project Alive as a volunteer and then board member in 2020. After serving as an officer for a year, McKay was selected as the Executive Director in August of 2022. Her mission is to see a cure for MPS II and support the community.
Kelly McVearry
Bento Biology Platforms
Kelly McVearry
Bento Biology Platforms
Kelly McVearry
Co-Founder and CEO
Bento Biology Platforms
Session: Compelling New Models for Patient Engagement and Generated Patient Data
Kelly McVearry is a pediatric neuropsychologist & CEO of the Hypatia Group. She launched Project BENTO to improve access to clinical trials for rare disease & autoimmune families, enabling at-home participation in clinical trials & precision medicine research. BENTO biosampling and eCOA methods are patient-designed to make study participation a gamified, consumer-grade experience, with self-sovereignty mechanisms to elevate patient voices &cultivate trust in medically underserved communities.
Amy Dockser Marcus
Wall Street Journal
Amy Dockser Marcus
Wall Street Journal
Award Winning Journalist
Wall Street Journal
Session: We the Scientists: How Patients Are Driving Research and Why It’s Necessary for Finding Cures
Amy Dockser Marcus is a staff reporter for The Wall Street Journal and the author of the new book, We the Scientists: How A Daring Team of Parents and Doctors Forged A New Path for Medicine. She won a Pulitzer Prize for Beat Reporting in 2005 for a series of stories about cancer survivors. She has a master of bioethics from Harvard Medical School.
Sarah Marshall, MSW
Undiagnosed Diseases Network
Sarah Marshall, MSW
Undiagnosed Diseases Network
Sarah Marshall
Peer Co-Chair
Undiagnosed Diseases Network
Session: Managing Life Without a Diagnosis
Sarah has been on UDN PEER since 2018 and been co-chair since 2022. Her daughter received a partial diagnosis at age 13, after a 10+ year diagnostic odyssey. She is most proud of the UDN PEER advocacy work that helped secure 18M dollars in Congressional funding towards UDN sustainability and also her ongoing advocacy for her daughter to find answers. She has a Masters of Social Work, lives in Minnesota with her 4 daughters and works as case manager for women and children living with HIV.
Katherine Maynard
PWR
Katherine Maynard
PWR
Session: The Regulatory Landscape: Patients, Data and Clinical Trials
Katherine Maynard is a healthcare communications strategist with extensive experience in alliance development, media relations, issues management, and brand positioning. For more than two decades, she has built connections with patient advocates, academia, and the healthcare industry to create innovative education initiatives that translate emerging scientific developments and communicate the patient experience. She is currently a principal at PWR — a multi-disciplinary team of scientists, lawyers, and communications professionals who apply deep scientific, legal, regulatory, and health policy expertise to develop science-based solutions to improve patient and public health.
Bojana Mirosaviljevic
ICON plc
Bojana Mirosaviljevic
ICON plc
Bojana Mirosaviljevic
Director, Rare Disease Patient Advocacy Strategy
ICON plc
Session: Expanding Your Global Reach
Bojana Mirosaviljevic is a chemist and embryologist specializing in preimplantation genetic testing. She is the Director, Rare Disease Patient Advocacy Strategy at ICON plc, professor at The College of Professional Studies in the subject of rare diseases, president of the Patient Organization for Rare Diseases in Children-Life and The Rare Disease Database for Balkan, a certified EUPATI Patient Expert for Rare Diseases, and recipient of the EURORDIS Black Pear. She also initiated Zoya’s Law, a law to promote diagnosis of genetic diseases and rare diseases in Serbia named after her late daughter.
Mary Morlino
Global Genes
Mary Morlino
Global Genes
Mary Morlino
Rare Concierge Patient Services Manager
Global Genes
Session: Financial Support for Your Community Members
Prior to joining Global Genes, Mary served as as a Patient Engagement Consultant for EveryLife Foundation for Rare Diseases. She is also the Co-Founder of MarylandRARE, a patient led coalition of rare disease stakeholders focusing on legislative policies in the State of Maryland at the Federal, State and local level. Mary is also involved with the Foundation for Sarcoidosis Research as a speaker, Mentor/Leader of the Civic Engagement Working Group, and advocate. She is also a Sarcoidosis patient, living with multi-system Sarcoidosis. Diagnosed after a 7+ year diagnostic odyssey she understands many of the aspects of the patient experience.
James O’Brien
International Prader-Wili Syndrome Organization (IPWSO)
James O’Brien
International Prader-Wili Syndrome Organization (IPWSO)
James O’Brien
Advisor
International Prader-Wili Syndrome Organization (IPWSO)
Session: Expanding Your Global Reach
Underling a powerful desire to maximize outcomes for all people living with Prader-Willi syndrome (PWS), James’ experience includes:
• Chair, Prader-Willi Syndrome Australia
• Councilor, RARE Global Advocacy Leadership Council
• Advisor, International Prader-Willi Syndrome Organisation
• Member, WHO Telehealth Working Group
James’ love for his two children, including his son living with PWS, drives his desire to establish and refine diagnosis, treatment, education, advocacy and support.
Effie Parks
Global Genes
Effie Parks
Global Genes
Effie Parks
Community Engagement Coordinator
Global Genes
Session: Coordinating Complex Care, Moderator
Brian Pfister, PhD, MBA
Praxis Precision Medicines
Brian Pfister, PhD, MBA
Praxis Precision Medicines
Brian Pfister, PhD, MBA
Vice President Global Medical Affairs
Praxis Precision Medicines
Session: Becoming Clinical Trial Ready
Brian has a diverse background in both drug development and medical affairs. He brings over 25 years of expertise in the CNS and Rare Disease to Praxis to find better treatments for those living with epilepsy. He is a seasoned veteran in drug development at Eli Lilly, Novartis, Lundbeck, SK Life Science, and PTC Therapeutics. On top of his professional and academic careers, Brian’s son Camden lives every day with epilepsy. Brian’s personal connection to epilepsy drives him forward with a passion to dare to do more, and to do so now.
Mike Porath
The Mighty
Mike Porath
The Mighty
Mike Porath
CEO & Founder
The Mighty
Session: I’m an Expert, Too: Communicating with HCPs
Mike is the founder and CEO of The Mighty, the leading health community with millions of members. Mike’s entry into the rare disease community came through his daughter, who has Dup15q syndrome, a neurogenetic disease associated with autism spectrum disorder, intellectual disability, and epilepsy. Soon after her diagnosis, Mike joined the board of directors for Dup15q Alliance. The community he became a part of inspired him to create The Mighty to empower and connect people facing rare diseases and other health conditions. Mike spent most of his career as a journalist, where he won multiple awards and held a variety of reporting, editing, producing and executive roles at ABC News, NBC News, The New York Times and AOL. For his work building The Mighty, he was named as one of the top 50 philanthropists by Town & Country. He has become a leading voice for patient-centered healthcare and speaks at events around the world about leveraging people and technology to improve the lives of patients. Mike lives in the Los Angeles area with his wife Sarah and their four children.
Maria Picone
TREND Community
Maria Picone
TREND Community
Maria Picone
Founder/CEO
TREND Community
Session: Supporting Your Community’s Mental Health and Possibly LIving Rare
Maria brings more than 15 years of experience managing operational and strategic ventures in the biotech and pharmaceutical industries. As a self-taught programmer, she founded Formed, Inc, a digital health technology company. After their daughter was born with a rare genetic disorder called Prader-Willi syndrome (PWS), Maria and her husband committed to creating solutions for rare diseases. This was the inspiration for TREND Community. She uses her platform as Founder and CEO of TREND to advocate for and bring hope to people living with rare, chronic, and emerging diseases.
Ying Qian
SMA Foundation
Ying Qian
SMA Foundation
Ying Qian
Director
SMA Foundation
Session: Spinal Muscular Atrophy Case Study
Ying Qian is a Director at the Spinal Muscular Atrophy Foundation and led efforts to develop outcomes measures, oversaw a natural history study and heads patient advocacy. The Foundation provided research tools, disease area expertise, and connections to clinicians to accelerate SMA drug development leading to the approval of three drugs. Ying publications include papers on the SMA diagnostic journey, newborn screening, and the psychosocial Impact of living with SMA, and SMA standards of care.
Sanath Kumar Ramesh
Open Treatments Foundation
Sanath Kumar Ramesh
Open Treatments Foundation
Sanath Kumar Ramesh
Founder and CEO
Open Treatments Foundation
Session:
- Crafting a Data Sharing Strategy
- Expert Session 2
Sanath is a bold and visionary software leader, open source pioneer and a rare disease drug developer. He is using open source software to enable treatments for 400 million patients worldwide affected with rare genetic diseases through his startup CuresDev. He is building a large-scale rare disease data network to break the data silos preventing rare disease treatments. He is also the father of a 5 yr old boy with ultra-rare disease (curegpx4.org)
Amy Raymond, PhD, PMP
Worldwide Clinical Trials
Amy Raymond, PhD, PMP
Worldwide Clinical Trials
Amy Raymond, PhD, PMP
Therapeutic Strategy Lead
Worldwide Clinical Trials
Session: Gene Therapy/Gene Editing
Amy Raymond, PhD, PMP, has been a drug discovery and development professional for 25+ years, including training in molecular biology followed by progressive roles in rare disease clinical operations and clinical strategy for cellular and genetic medicines. Her clinical development experience spans all therapeutic areas and all stages of the clinical development lifecycle. She leverages her combination of training and experience leading the Cell & Gene Therapy Hub at Worldwide Clinical Trials.
Deborah Requesens, PhD
UPenn Orphan Disease Center
Deborah Requesens, PhD
UPenn Orphan Disease Center
Deborah Requesens, PhD
Jump Start Program Director
UPenn Orphan Disease Center
Session: Create Your Strategy: The Rare Research Roadmap
Deborah Requesens, PhD, is the Director of the Orphan Disease Center’s JumpStart Program. This program serves to establish and progress research agendas in emerging and neglected diseases. She partners with patient groups and scientists to encourage scientific collaboration and drive therapeutic development for rare diseases. Deborah is the co-founder of SHER (Hispanic Society for Rare Diseases), an organization that promotes awareness about rare diseases and provides information and resources in Spanish to families of Hispanic origin, as well as organizations, scientists, and health professionals.
Charlene Son Rigby
Global Genes
Charlene Son Rigby
Global Genes
Sessions:
Welcome and Opening Keynote
The RARE Research Roadmap – Charting the Way to Treatments
Charlene Son Rigby has spent her career building organizations at the intersection of data, technology, and life sciences. She currently serves as CEO of Global Genes. She was previously Chief Business Officer at Fabric Genomics and held executive roles at enterprise software and genomics companies, including Oracle and Doubletwist. She started her career in neuroscience research at Roche. When Charlene’s daughter was diagnosed with a rare genetic disease, she co-founded the STXBP1 Foundation. Charlene’s unplanned connection between her personal life and profession has helped push forward the search for a cure for her daughter and kids like her.
Steve Rodems, PhD
Travere Therapeutics
Steve Rodems, PhD
Travere Therapeutics
Steve Rodems, PhD
Vice President, Research
Travere Therapeutics
Session: How Companies Decide Which Therapies to Pursue
Steve is the Vice President of Research at Travere Therapeutics with 25 years of experience in rare disease drug development. He leads a team driving preclinical research, nonclinical development, and identifying new opportunities to add to Travere’s pipeline. Prior to Travere, Steve worked in early drug discovery at Vertex Pharmaceuticals in San Diego. He received a Ph.D. in Biochemistry from the University of Wisconsin-Madison, and a B.A. in Chemistry/Biochemistry from UC San Diego.
Kari Rosbeck
TSC Alliance
Kari Rosbeck
TSC Alliance
Kari Rosbeck
President & CEO
TSC Alliance
Session: Developing Sustainable Funding Models for Organizations
Kari Rosbeck, President & CEO, TSC Alliance, has 35 years of experience in nonprofit fundraising, volunteer management and advocacy leadership. During her tenure, TSC Alliance established a comprehensive research program, fostering collaboration with industry, academia and the patient community to expedite treatments for TSC. Today, there are three FDA-approved drugs specifically for TSC. The Unlock the Cure research strategy also serves as a capital campaign raising $24 million since 2011.
Luke Rosen, MS
KIF1A.ORG
Luke Rosen, MS
KIF1A.ORG
Founder
KIF1A.ORG
Sessions:
Developing Scientific Expertise to Drive Research Strategy
Data Collection to Improve Outcomes
Luke and Sally Rosen founded KIF1A.ORG in 2016 following their daughter’s KIF1A diagnosis. In 2017 he left his career in film and television to accelerate discovery of treatment for Susannah and children like her. Luke is a community leader who drives our collective mission to urgently bring treatment to children living with rare neurodegenerative diseases. Luke has held various senior level positions in biotech, has a masters degree in bioethics, and is a firefighter in Sag Harbor, New York.
Jean-Pascal Roussy
Sanofi
Jean-Pascal Roussy
Sanofi
Jean-Pascal Roussy
Head Global Public Affairs, Rare Diseases & Rare Blood Disorders
Sanofi
Session: Working Groups on Building Your Foundation’s Strategy
As the Head of Global Public Affairs, Rare Diseases and Rare Blood Disorders at Sanofi, Jean-Pascal leads efforts to evolve the rare environment for equitable access to diagnosis, innovative treatments, and care. He has two decades of experience in the sector in roles across public affairs, policy, market access, and health economics, and expertise in building successful stakeholder alliances. Jean-Pascal is a pharmacist with a PhD in pharmaceutical sciences from the University of Montreal.
Joni Rutter, PhD
National Center for Advancing Translational Sciences (NCATS)
Joni Rutter, PhD
National Center for Advancing Translational Sciences (NCATS)
Joni Rutter, PhD
Director, National Center for Advancing Translational Sciences (NCATS)
Session: Strengthened by Our Past, Working Together to Create Our Future
Joni Rutter, Ph.D., is the Director at the National Center for Advancing Translational Sciences (NCATS). She is responsible for the planning and execution of the Center’s preclinical and clinical programs. Her primary objective as director is to use translational science as a means to provide all people with more treatments more quickly and efficiently. Before joining NCATS, she served as Director of Scientific Programs for the All of Us Research Program of the NIH Precision Medicine Initiative.
Christina SanInocencio, PhD, CPH, CNP
Fairfield University
Christina SanInocencio, PhD, CPH, CNP
Fairfield University
Christina SanInocencio
Assistant Professor
Fairfield University
Session: Becoming Clinical Trial Ready
Dr. Christina SanInocencio is a health communication researcher / practitioner with expertise in qualitative methods. Christina is the sibling to an adult man with Lennox-Gastaut Syndrome and is the founder and former executive director of the LGS Foundation. Her research interests include patient-centered outcomes, lived experiences of rare disease patients, and conceptual disease models for rare diseases using qualitative methods.
Jillian Shaw
Broad Institute
Jillian Shaw
Broad Institute
Jillian Shaw
Scientific Advisor
Broad Institute
Session:
Finding Your Flock: Emerging Opportunities to Accelerate Research Through Disease Community Collaboration
Birds of a Feather
Scientific Advisory Board
Jillian is the Scientific Advisor at the Broad Institute of MIT and Harvard focused on the rare disease accelerator, Ladders to Cures.
Eric Sid, MD, MHA
National Center for Advancing Translational Sciences (NCATS)
Eric Sid, MD, MHA
National Center for Advancing Translational Sciences (NCATS)
Eric Sid, MD, MHA
Program Officer
NIH NCATS Office of Rare Diseases Research
Sessions:
- Finding Your Flock: Emerging Opportunities to Accelerate Research Through Disease Community Collaboration
- Birds of a Feather, Scientific Advisory Board
Eric Sid is a NIH program director and works for NCATS’ Division of Rare Diseases Research Innovation, where he is the lead for the Genetic and Rare Diseases (GARD) Information Center and data science research in rare diseases. GARD is a public health resource that provides free support in finding and understanding information about rare diseases. He received his MD and MHA degrees from the University of Washington and completed a Presidential Management Fellowship with the NIH and VA.
Jennifer Sills
CSNK2A1 Foundation
Jennifer Sills
CSNK2A1 Foundation
Jennifer Sills
President and Founder
CSNK2A1 Foundation
Session: Develop a Longterm Growth Strategy
Jennifer Sills is the Founder of the CSNK2A1 Foundation, supporting individuals and families affected by Okur-Chung Neurodevelopmental Syndrome. Driven by her daughter’s 2016 diagnosis, Jennifer became a passionate advocate dedicated to finding a cure for OCNDS. With a background as an Estate Planning and Tax Attorney, she provided invaluable guidance to non-profit organizations on fundraising and planned giving. She resides in the San Francisco Bay Area with her family and furry companions.
Adam Staffaroni, PhD
Adam Staffaroni, PhD
Adam Staffaroni, PhD
Assistant Professor
UCSF
Session: It’s All of Us Against the Disease: The Future of Collaboration and Disease Community Consortiums
Dr. Staffaroni is a clinical neuropsychologist and assistant professor at the University of California, San Francisco’s Memory and Aging Center. His research aims to improve early detection, prognosis, and monitoring of frontotemporal dementia (FTD) through statistical modeling and developing digital assessment tools. He is a co-investigator on a North American study of FTD (ALLFTD) and leads the FTD Prevention Initiative’s effort to harmonize data across global genetic FTD research studies.
Emily Stauffer
EveryLife Foundation
Emily Stauffer
EveryLife Foundation
Emily Stauffer
State Policy Manager
EveryLife Foundation
Session:
Emerging Rare Policy Issues
Expert Office Hours
Emily Stauffer is the state policy manager for the EveryLife Foundation for Rare Diseases. Prior to her role at the EveryLife Foundation, she worked as a committee staffer and legislative aide at the Utah State Senate. She has also conducted political research and worked on state-level legislative campaigns. Emily’s passion lies in empowering advocates to engage with their state elected officials, ensuring that the voices of rare disease patients are heard and amplified in state government.
Kim Stephens, DBA
Dr. Joseph Muenzer MPS Research and Treatment Center at UNC, Chapel Hill
Kim Stephens, DBA
Dr. Joseph Muenzer MPS Research and Treatment Center at UNC, Chapel Hill
Executive Director
Dr. Joseph Muenzer MPS Research and Treatment Center at UNC-Chapel Hill
Session: Beginner’s Guide to Community Activation
Dr. Kim Stephens is the executive director of the Dr. Joseph Muenzer MPS Research and Treatment Center at UNC, Chapel Hill. The Center is focused on treating patients in the mucopolysaccharidosis (MPS) family of diseases and leading research in this area. Having a son with MPS II (Hunter syndrome), herself, this is a personal mission for Kim. In addition, Kim serves as the President of the Board for Project Alive, a Hunter syndrome research and advocacy organization.
Ronda Thorington
Parent Coach
Ronda Thorington
Parent Coach
Ronda Thorington
Clinician
Parent Coach
Session: Grieving Diagnosis, Lack of Diagnosis and Loss
Ronda Thorington, a Licensed Professional Counselor, has 20+ years of experience in mental health treatment of individuals of all ages. Her life took a transformative turn in 2012, when her then four-year-old child was diagnosed with Mixed Connective Tissue Disease. Drawing from personal experience and clinical expertise, she now coaches families facing life-changing medical diagnoses. Ronda shares invaluable tools and strategies to empower families with resilience, self-advocacy, and hope.
Stephanie Tomlinson
Undiagnosed Diseases Network
Stephanie Tomlinson
Undiagnosed Diseases Network
Stephanie Tomlinson
Co-Chair
Undiagnosed Diseases Network
Session: Managing Life Without a Diagnosis
Stephanie tells stories as a a rare disease advocate and highly empathetic communicator with proficient management skills and a resilient spirit with a proven track record of resource connecting. She is experienced in medical device sales, research trials, men’s health, contract manufacturing, and preclinical safety test.
Karmen Trzupek, MS, CGC
Global Genes
Karmen Trzupek, MS, CGC
Global Genes
Karmen Trzupek, MS, CGC
Senior Director, Scientific Programs
Global Genes
Sessions:
- Create Your Strategy: The Rare Research Roadmap
- Welcome and Open Science Data Challenge, Expert Office Hours
Karmen Trzupek is Senior Director of Scientific Programs at RARE-X, part of Global Genes. She is an innovative leader in rare disease programming, with experience in academia, advocacy, and industry. Karmen develops collaborative partnerships to maximize the Rare-X data platform for the advancement of patient advocacy groups and industry-supported therapeutic pipelines. As a clinical genetic counselor, Karmen developed the first nationwide telemedicine program for rare disease genetic counseling and testing, and co-developed the first pharma-sponsored genetic testing program in the US.
Tiina Urv
Rare Diseases Clinical Research Network (RDCRN)
Tiina Urv
Rare Diseases Clinical Research Network (RDCRN)
Tiina Urv
Program Director
NIH NCATS Rare Diseases Clinical Research Network (RDCRN)
Sessions:
The Power of Partnering: Boston Children’s Hospital
Birds of a Feather
Tiina Urv is the program director for the Rare Diseases Clinical Research Network (RDCRN), a multidisciplinary international program in the Division of Rare Diseases Research Innovation. As the lead for the RDCRN program, Tiina collaborates with 10 NIH Institutes to manage 22 consortia and a central Data Management Coordinating Center.
Jay Vivian, PhD
Children’s Mercy Kansas City
Jay Vivian, PhD
Children’s Mercy Kansas City
Session: Working Groups on Building Your Foundation’s Strategy
Jay Vivian, PhD is a Research Associate Professor and Scientific Director of the Transgenic and Gene Targeting Facility at the University of Kansas Medical Center. Dr. Vivian also is the Director of the Rare Disease Research Center at Children’s Mercy Research Institute. His research focuses on understanding rare and undiagnosed diseases and novel variants identified in patient genome sequencing data, using genetically modified mice and pluripotent stem cells. These efforts make extensive use of genome editing methods. A native of Illinois, he obtained his PhD in developmental genetics at the University of Texas M.D. Anderson Cancer Center. He currently serves on the Board of Directors of multiple rare disease foundations, including RareKC and the Mowat-Wilson Syndrome Foundation.
Vanessa Vogel-Farley
Global Genes
Vanessa Vogel-Farley
Global Genes
Vanessa Vogel-Farley
Senior Director of Research and Data Analytics
Global Genes
Session: Crafting a Data Sharing Strategy
Vanessa Vogel-Farley, BA, is the Senior Director of Research and Data Analytics and Governance for Global Genes and serves as the Principal Investigator for RARE-X. She is an independent data and advocacy consultant in the rare space as well. She is the co-founder of the Commission on Novel Technologies for Complex Copy Number Variants. She serves on the Coordinating Committee for the Rare Epilepsy Network (REN) and the Alliance for Genetic Etiologies in Neurodevelopmental Disorders and/or Autism. Vanessa has served as the Executive Director of the Dup15q Alliance from 2016 – 2021 and the Dup15q Alliance Board from 2021-2023 where she led the Science and Research Strategy. She also served on the Epilepsy Leadership Council and as the Director of Operations of ACEing Autism from 2008 through 2015. Previously, she was at the University of Minnesota, Center for Neurobehavioral Development. She has also served as the Clinical Research Coordinator for the Division of Developmental Medicine Laboratory of Cognitive Neuroscience, Boston Children’s Hospital, working on collaborations with scientists from MIT and Harvard examining several clinical populations, including autism. She possesses 20+ years of experience in data collection methods as well as expertise in non-profit and research operations, patient advocacy and support, non-profit management, and broad knowledge of child development neuroscience/psychology research and administration.
Shannon Von Felden
EveryLife Foundation
Shannon Von Felden
EveryLife Foundation
Shannon Von Felden
Senior Director of Advocacy
EveryLife Foundation
Session: Emerging Rare Policy Issues
Shannon von Felden is the Senior Director of Advocacy at the EveryLife Foundationfor Rare Diseases. Shannon has led Rare Disease Legislative Advocates (RDLA) for over five years and works with rare disease advocates across the country to engage at the local, state, and federal level. She began her career on Capitol Hill working on health care and has worked with national nonprofit organizations including JDRF and the Bone Health and Osteoporosis Foundation.
Yael Weiss
Mahzi Therapeutics
Yael Weiss
Mahzi Therapeutics
Yael Weiss
CEO
Mahzi Therapeutics
Session: Preclinical Research: Why and When to Invest
Yael is CEO of Mahzi Therapeutics, a company focused on developing therapies for ultra-rare genetic neurodevelopmental disorders. Mahzi works closely with patient foundations to support their drug development journey and bring programs into Mahzi. With 20+ years of industry experience she is also a member of the NIH driven Bespoke Gene Therapy (BCTG) consortium, ASGCT translational committee, N=1 collaborative, a 2022 Termeer Fellow and board member/advisor to ADNP and FOXG1 foundations.
Ashley Winslow, PhD
Odylia Therapeutics
Ashley Winslow, PhD
Odylia Therapeutics
CEO and CSO
Session: Birds of a Feather
Ashley Winslow is CEO and CSO of Odylia Therapeutics, a nonprofit biotech focused on accelerating drug development for rare diseases in partnership with patient groups. Ashley brings to Odylia more than 15 years of drug development experience, with previous positions at the University of Cambridge, Mass General Hospital/ Harvard, Pfizer, and the Orphan Disease Center. She serves as a scientific advisor to the Angelman Syndrome INSYNC-AS council, CHAMP1 Research Foundation, and RARE-X/ Global Genes.
Kasey Woleben
Rare Village Foundation
Kasey Woleben
Rare Village Foundation
Kasey Woleben
Founder
Rare Village Foundation
Session: Beginner’s Guide to Community Activation
Kasey is the Co-Founder of Rare Village Foundation and Cure Mito Foundation
Stephanie Yin
RareMinds
Stephanie Yin
RareMinds
Stephanie Yin
Psychotherapist
RareMinds
Sessions:
Supporting Your Community’s Mental Health
Coping with the Challenges of Rare Disease
Stephanie is an accredited psychotherapist with RareMinds, a specialist non-profit counselling service in the UK dedicated to those impacted by rare, genetic and undiagnosed conditions. She is also their Research Lead, and undertakes training for patient advocates and healthcare professionals. Informed by both her own lived and professional experience of the impact of rare conditions, she is passionate about raising awareness and improving mental health support for the rare disease community.
Advocate Support Program
The Advocate Support Program is offered to offset the cost associated with attending the 2023 RARE Advocacy Summit. Advocate Support will cover a portion of your meeting and travel expenses for the conference.
Advocate Support (formerly known as stipends) is available to individual patients, close family and friends of advocates in the rare disease community, or staff (paid/volunteer) of rare disease nonprofit organizations or support groups.
Poster Submissions
Posters provide an opportunity for you to share the work of your organization, team or community with a larger audience of rare disease stakeholders from advocacy, research and industry. Showcasing ongoing or completed projects often can provide new connections/opportunities to meet new collaborators and/or potential funders. If you are interested in submitting a poster, click the button below to see poster guidelines for the RARE Advocacy Summit.
Visit the Exhibitor Booths
Exhibitors at RARE Advocacy Summit are featured here!
Applications for Exhibitor Booths have closed. While you are at the Summit, feel free to visit the booths! Suggested times to visit:
Tuesday, September 19, 1:00 pm -6:00 pm
Wednesday, September 20, 8:30 am – 6:00 pm
Make sure you stop by during the lunch break from 12:45 – 2:00 pm!
Thursday, September 21, 7:30 am-9:00 am
Plan Your Visit
Book your hotel room before August 23rd to secure a special conference rate. All conference room block reservations are in the Marina Tower.
Airfare Discounts: Delta and United are partnering with Global Genes to offer attendees discounted airfare (domestic travel only)!
Delta: Call Delta Meeting Network® at 1.800.328.1111* Monday–Friday, 8:00 a.m. – 6:30 p.m. (EST) and refer to Meeting Event Code NM2KV or click the button below.
United: Call United Meetings Reservation Desk Monday – Friday at (800) 426-1122 and use discount code ZNJJ289948 or click the button below.
Complimentary airport shuttle service to and from San Diego International airport runs daily every 30-40 minutes from 4:45 AM – 12:00 AM. Confirm next available time with the front desk. If you’re driving, self-parking is available ($27 per night). Accessible transportation is available upon request by contacting the hotel directly.
A Look Back at the 2022 Patient Advocacy Summit
Thank You to Our Sponsors!
Champion Sponsor
Title Sponsors
Presenting Sponsor
Gold Sponsors
Silver Sponsors
Track Sponsors
Partner Sponsor
Advocacy Support Sponsors
Champions of Hope Support
Media Sponsor
