Mackenzie Abramson, MPH

Global Genes

Senior Manager, Research Programs Communications

Session:
Moderator
Track 1: Living with Visible and Invisible Disabilities – and How to Educate Others
Track 1: Medical Gaslighting and PTSD
Track 1: Career Considerations for Rare Adults

Mackenzie was diagnosed with her first rare disease in her mid-20s. She decided to use her education and experience to focus on advocacy efforts for others facing rare and chronic diseases. Mackenzie earned a Master’s degree in Public Health, with an emphasis on Global Health. Early on, she worked on a Community Health Needs Assessment of the Albinism Community in Rwanda, and then at the WHO in Egypt. Mackenzie then decided to focus solely on rare disease and committed to her advocacy efforts in both her personal and professional life.

At Global Genes, Mackenzie supports community and research engagement efforts through the Rare-X Research Programs, as well as all research initiatives with the aim of growth through patient and researcher community engagement and recruitment. Mackenzie continues to share her story through various public speaking engagements and advocacy events. Her commitment is not just professional; it’s rooted in a profound understanding of the challenges faced by those with complex health conditions. Her personal mission is to support those in the rare and complex disease communities so that everyone feels they have a voice.

Dustin Baldridge, M.D., Ph.D.

Washington University in St. Louis

Assistant Professor

Session:
Track 1: My Genetic Test Says VUS: What’s Next?

Dr. Baldridge grew up in St. Louis, MO and completed his MD/PhD training at Baylor College of Medicine. He is a board-certified pediatrician conducting full-time translational genomics research in the Division of Genetics and Genomic Medicine. He leads a team studying the overwhelming number of variants of uncertain significance (VUS) generated via exome and genome sequencing. He also serves as a co-investigator for the Washington University Model Organism Screening Center.

Raymond Belanger-Deloge, M.S., C.G.C.

Boston Children’s Hospital Rosamund Stone Zander Translational Neuroscience Center

Certified Genetic Counselor

Session:
Track 3: Is Our Community Ready for Gene Therapy?

Raymond Belanger-Deloge is a certified and licensed genetic counselor. As a Translational Genomic Medicine Specialist and Community Outreach Coordinator with the Rosamund Stone Zander Translational Neuroscience Center (RSZ TNC) at Boston Children’s Hospital, he specializes in translational research for rare genetic neurodevelopmental disorders and facilitating partnerships between the RSZ TNC and Patient Advocacy Groups.

Shannon Bennett*

Global Genes

Patient Navigator

Session:
Track 1:Moderator: Your Child’s Rights: IEPs and 504s

Shannon began her journey in RARE in 2015, when her daughter Kenzie was born with an ultra rare condition called MCAP. After suffering from the isolation and hopelessness that can often come from a rare diagnosis herself, she decided to find a way to support other patients and families in their rare journeys.

Alongside her daughter’s geneticist, Shannon has worked hard to support, educate and unite the rare disease community for nearly a decade. Recognizing early on that this was a passion she needed to lean into, she partnered with Calvin University, Corewell Health, Michigan State University and the Van Andel Institute of Research to co-found the Rare Disease Network in Grand Rapids, Michigan. Shannon also volunteers for the Helen Devos Children’s Hospital NICU Parent to Parent Program, supporting and mentoring families navigating complex diagnoses. She graduated from Grand Valley State University with a Bachelor’s degree in English and education.

Outside of her work, Shannon is a wife and busy mom of 4 children and 3 Boston Terriers. She considers herself a lifelong learner, an avid reader, enjoys writing and loves camping with her family.

Terry Jo Bichell, Ph.D., MPH

COMBINEDBrain

Founder

Session:
Track 3: Moderator: A Guide to Biomarkers and Outcome Measures

Lara Bloom*

The Ehlers-Danlos Society

President and CEO

Session:
Track 2: Activate Your Community

Lara Bloom is the President and CEO of The Ehlers-Danlos Society and responsible for globally raising awareness of rare, chronic, and invisible diseases, specializing in the Ehlers-Danlos syndromes (EDS), hypermobility spectrum disorders (HSD), and related conditions. Lara leads coordinated medical collaboration, raising funds for research and focuses on global progression, education and awareness.

Lea Ann Browning-McNee*, MS

Reagan-Udall Foundation

Director, Communications and Engagement

Session:
Track 3: Unlocking the Future: The Vital Role of Natural History Studies

Lea Ann Browning-McNee is director of communication and stakeholder engagement for the Reagan-Udall Foundation for the FDA, the nonprofit, non-government organization established by Congress to support the Food and Drug Administration. With nearly 25 years of experience in communications, Lea Ann has specialized in health education and health literacy, patient advocacy, and stakeholder-driven initiatives to inform prevention, treatment, and recovery programs.

Elizabeth (Liz) Cassidy, MPH

TSC Alliance

Senior Manager, Research Projects

Session:
Track 3: Unlocking the Future: The Vital Role of Natural History Studies

Elizabeth (Liz) supports various research projects at the TSC Alliance, in particular, the TSC Natural History Database and Biosample Repository. Liz earned her Master of Public Health from The George Washington University Milken Institute School of Public Health in 2022. Liz has experience in various research roles from database building, regulatory processes and data analysis. Liz is also interested in improving large datasets and data-sharing initiatives in rare diseases.

Samantha Charleston

University of Pennsylvania

Director, Programs and Community Engagement
Orphan Disease Center

Session:
Track 2: Activate Your Community

For nearly 10 years, Samantha has lead the development and execution of programs that provide critical funding, education, and advocacy for the rare disease community. Working with a broad spectrum of stakeholders including patients, advocacy groups, academics, and industry leaders, her role has focused on establishing a collaborative approach to fostering innovative solutions and resources that address the unique unmet needs within the rare disease landscape.

Deena Chisholm, Ph.D.

TANGO2 Research Foundation

Research Engagement Director

Session:
Moderator: Track 3: Unlocking the Future: The Role of Natural History Studies

As Research Engagement Director at the TANGO2 Research Foundation, Deena spearheads strategic planning & implementation of research & grant activities to meet foundation objectives. With over a decade of experience in large healthcare systems & nonprofits, she excels in developing & leading research, public health, & education initiatives. Deena’s expertise lies in community health education, project and program development, grant management, and Community-based Participatory Research (CBPR).

Wendy Chung, M.D., Ph.D.

Boston Children’s Hospital

Chief of Pediatrics

Sessions:

Track 2: Understanding Newborn Sequencing and Screening (NBS)
Track 3: Quick Wins and Long-Term Investments in Data

Wendy Chung, M.D., Ph.D., is a clinical and molecular geneticist and the Chief of the Department of Pediatrics at Boston Children’s Hospital and Harvard Medical School. Dr. Chung directs NIH funded research programs in human genetics of many rare genetic diseases. She was the recipient of the Rare Impact Award from the National Organization of Rare Disorders, and is a member of the National Academy of Medicine and the American Academy of Physicians. She leads SPARK and Simons Searchlight.

Marianne Clancy

Cure HHT

Executive Director

Session:
Track 3: Quick Wins & Long-Term Investments in Data

Elle Cole

Sickle Cell Disease

Advocate

Session:
Track 1: Your Child’s Rights: IEPs and 504s

Elle Cole is a dynamic parental advocate, author, and caregiver with a mission to support and educate families facing the challenges of Sickle Cell Disease and Type 1 Diabetes. With a portfolio of over 12 published books, including “The Ultimate Sickle Cell Activity Book,” “ABCs of Sickle Cell Disease,” and “A Sickle Cell Coloring Book for Kids,” Elle is dedicated to empowering young minds and their caregivers. Her advocacy efforts have received numerous accolades.

Rachelle Cook

Assistive Technology Professional

Rare Disease Patient

Session:
Track 2: Disability and Access

Rachelle is a RESNA certified Assistive Technology Professional (ATP) and a dedicated advocate for accessibility and rare disease communities. Her knowledge blends lived experience with rare diseases and training in assistive technology to champion inclusive design. She believes in patient empowerment (nothing about us without us!) and the power of community to drive positive change for everyone.

John F. Crowley, J.D.

Biotechnology Innovation Organization (BIO)

President and BEO

Session:
A Father and Leader Who Transformed How We Think About Rare Disease

John F. Crowley is the President and CEO of Biotechnology Innovation Organization (BIO), the world’s largest biotechnology advocacy organization. Crowley was most recently the Founder and Executive Chairman of Amicus Therapeutics, a global biotechnology company focusing on developing treatments for rare genetic diseases. His involvement with biotechnology stems from the 1998 diagnosis of two of his children with Pompe disease—a severe and often fatal neuromuscular disorder.

Daniel DeFabio

Global Genes

Director, Community Engagement

Sessions:
RARE Advocacy Summit
Track 1: Help for the Rare Caregiver
Track 1: Facilitator: RAREly Told Stories Workshop

RARE Health Equity Forum
Film Screening: HOLDING MOSES

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.

Daniel DeFabio email

Janet DesGeorges

Hands and Voices

Executive Director

Session:
Track 2: Working Together for Advocacy, Research and Therapies

Janet DesGeorges lives in Colorado and is mom to Sara, who is deaf/hard of hearing. She is Executive Director of Hands & Voices Headquarters, a parent support and advocacy org. for families who have children who are hard of hearing/deaf. Ms. DesGeorges is the co-author of the book Educational Advocacy for Students who are Deaf and Hard of Hearing: The Hands & Voices Guidebook, and many other publications. As an advocate, Janet believes in a parent-driven, professionally collaborative approach.

Carla D’Imperio

Phelan-McDermid Foundation

Family Support Specialist

Session:
Track 1: Medical Gaslighting and PTSD

As Family Support Specialist for the Phelan-McDermid Syndrome Foundation, Carla D’Imperio brings a background in education as well as her experience advocating for her son, Matthew, who has Phelan-McDermid syndrome. .Carla is a graduate of Boston University and Pace University, and she completed her bilingual studies in Spanish at Universidad Autónoma de Madrid. She worked as a middle school teacher in the Bronx followed by several years as a Managing Director for Teach For America New York.

Suzanne Edison

CureJM Foundation

Mental Health Coordinator

Session:
RARE Advocacy Summit
Track 1: Medical Gaslighting and PTSD

RARE Health Equity Forum
Dear Rare Disease, a Storytelling Workshop

Suzanne Edison, MA, MFA, 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: Lily Poetry 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.

Jessica Fein

Mitoaction

Author, Caregiver, Advocate

Sessions:
Track 2: Master Rare Disease Conference Planning

Jessica Fein is the author of Breath Taking: A Memoir of Family, Dreams, and Broken Genes and host of the “I Don’t Know How You Do It” podcast. Her writing has appeared in Newsweek, Psychology Today, The Boston Globe, HuffPost, and more. Jessica is a relentless warrior in the memory of her dynamic daughter whom she lost to rare disease in 2022. She serves on the Board of Directors of Mitoaction.

Erik A. Feingold

FDNA Inc.

CEO and Founder

Session:
Track 3: Using AI to Improve Rare Diagnosis

Erik A. Feingold is the CEO and Co-founder of FDNA Inc. He previously served as the Senior Advisor to the CEO, and as President & Head of Strategy at Sharecare. Feingold is a distinguished business leader with over 30 years of experience at the intersection of technology, healthcare, and product innovation. His extensive background includes founding and leading high-growth businesses, managing M&As and integrating acquisitions, overseeing international operations, and contributing to a $4bn IPO.

Dakota Fisher Vance

Biocryst Pharmaceuticals

Global Patient Advocacy Associate Director

Session:
Track 1: Career Considerations for Rare Adults

Find me at the intersection of medicine, education, and community. I am dedicated not only to defining and inspiring true patient-centered care but, also to ensuring that the often overlooked young adult and rare disease patients have a community to center themselves within.

Jennifer Foss-Feig, Ph.D.

Icahn School of Medicine, Mount Sinai

Principal Investigator, Foss-Fein Lab

Session:
Track 3: Quick Wins and Long-Term Investments in Data

Simon Frost

Tiber Capital Group

Simon Frost

Tiber Capital Group

Session: Expert Office Hours

Time:
Tuesday, May 2, 4-5pm
Wednesday, May 3 11:15-12:15pm

Area of Expertise:
* Path to therapies: AAV-mediated gene therapy, ASOs, gene editing, drug screening, and to a lesser extent EVs.
* Tools: mouse models, worm models, cell lines/IPSCs, endpoint/biomarker development, natural history studies
* Community cooperation: foundations, scientists, clinicians, intellectual property

Simon Frost is the CEO of Tiber Capital Group. Before joining Tiber Capital Group, he was the chief investment officer of Greencourt Capital, president and COO of Key Properties, and co-founder of The American Home. Simon holds Bachelor’s and Master’s degrees in economics from Cambridge University in England, and a Bachelor’s degree in finance from the University of South Africa. Simon serves as director of both Cure AHC and Hope For Annabel, charities dedicated to finding therapies for Alternating Hemiplegia of Childhood.

Matthew Fuller, Ph.D.

Ultragenyx

Executive Director, Gene Therapy Research

Session:
Track 3: Is Our Community Ready for Gene Therapy?

Matthew Fuller is Executive Director of Gene Therapy Research at Ultragenyx, leading the Producer Cell Line and Vector Engineering teams to execute program and platform research to continually optimize and invest in Ultragenyx’s gene therapy platforms and programs. Matthew also serves on the FNIH Bespoke Gene Therapy Consortium, as a member of the scientific advisory board for the Coalition to Cure CHD2, and as chief scientific advisor for the Cohen Syndrome Research Foundation.

Pat Furlong

Parent Project Muscular Dystrophy

Founding President and CEO

Session:
Track 3: A Guide to Biomarkers and Outcome Measures

Alan Gilstrap, Sr.

Akouos

Director, Advocacy and Engagement

Session:
Track 2: Working Together for Advocacy, Research and Therapies

Megan Golden

Mission: Cure

Co-Founder and CEO

Session:
Track 2: Innovative Funding Strategies

Megan is co-founder and CEO of Mission:Cure, which is improving the lives of people with chronic pancreatitis, a devastating disease afflicting her younger brother. She has a J.D. and experience in nonprofit leadership, program development, and innovative, outcome-based financing. She serves as a voting panel member for ICER.

Peter Goodhand

CEO, Global Alliance for Genomics & Health

Kendra Gottsleben

Sanford School of Medicine, University of South Dakota

Marketing Communications Specialist, Center for Disabilities

Session:
Track 1: Living with Visible and Invisible Disabilities – and How to Educate Others
Track 2: Disability and Access
Track 1: Career Considerations for Rare Adults

Kendra is the marketing communication specialist at the Center for Disabilities in Sioux Falls, SD. She’s an author and spokesperson on living a life with a rare disease and disability. Kendra is the founder and executive director of Rare by Design. Her career blends the two worlds in which she grew up: medicine and education. Kendra’s memberships on numerous boards, advisory groups and professional societies keeps her actively engaged locally, state-wide and nationally.

Amanda Griffith-Atkins

Amanda Atkins Counseling Group

Marriage and Family Therapist
Founder

Session:
Track 1: Medical Gaslighting and PTSD

Amanda is a licensed marriage and family therapist and founder of Amanda Atkins Counseling Group in Chicago.

It wasn’t until her son Asher (now 15) was diagnosed with a rare genetic condition that she discovered her life’s purpose: to help support parents of disabled children as they process the complex emotions that often come with caregiving.

Her forthcoming book, published by Workman Publishing, will be released in May of 2025.

James Griffin

EveryLife Foundation for Rare Diseases

Sickle Cell and Rare Disease Legislative Advocate

Sessions:
Track 2: Empowering Advocacy: Federal, State & Patient Insights

James Griffin was diagnosed with sickle cell at two. He is a Sickle Cell Advocate; published author of the book Breaking Silence: Living With Sickle Cell Anemia. In 2013 he began advocating for sickle cell. Since then, he has spoken in front of healthcare professionals, med students, pharma and biotech companies, as well as patients and caregivers. In 2019 he started advocating on Capitol Hill for Rare Disease Week to help improve the quality of care for patients within the medical systems.

Gay Grossman

GeneDx

Patient Advocacy & Engagement Lead

Session:
Track 2: Moderator – Working Together for Advocacy, Research and Therapies

Christina Gurnett, M.D., Ph.D.

Washington University in St Louis

Director, Division of Pediatric and Developmental Neurology

Session:
Track 1:My Genetic Test Says VUS: What’s Next?

Dr. Christina Gurnett is the Director of the Division of Pediatric and Developmental Neurology at Washington University in St Louis and the Neurologist-in-Chief of St Louis Children’s Hospital. She is also the Co-director of the Intellectual and Developmental Disabilities Research Center (IDDRC) at Washington University. Dr. Gurnett is also leading a network-wide IDDRC project called the Brain Gene Registry (https://braingeneregistry.wustl.edu/) to understand the impact of rare gene variants.

Melissa Haendel, Ph.D.

University of North Carolina Chapel Hill

Director of Precision Health & Translational Informatics

Session:
RARE Advocacy Summit
Track 3: Using AI to Improve Rare Diagnosis

RARE Health Equity Forum:
The Monarch Initiative: Informatics and Open Data Sharing

Melissa Haendel’s background is molecular genetics and developmental biology as well as translational informatics, with a focus over the past decade on open science and semantic engineering. Dr. Haendel’s vision is to weave together healthcare systems, basic science research, and patient generated data through development of data integration technologies and innovative data capture strategies. Her research has focused on integration of genotype-phenotype data to improve rare disease diagnosis.

Sharie J. Haugabook*, Ph.D.

National Institute of Health (NIH)/National Center for Advancing Translational Sciences (NCATS)

Acting Head, Scientific Project Management
Therapeutic Development Branch Division of Preclinical Innovation

Session:
Track 3: Overcoming the “Valley of Death” in Research

Sharie J. Haugabook, Ph.D. is the Acting Head, Scientific Project Management in the Therapeutic Development Branch, Division of Preclinical Innovation, National Center for Advancing Translational Sciences at the National Institutes of Health. Since transitioning from drug discovery at Merck & Co., she has managed collaborative partnerships for preclinical development projects for the Therapeutics for Rare and Neglected Diseases program as well as other programmatic and translational initiatives.

Michele Herndon, M.S.N., R.N.

Undiagnosed Diseases Network Foundation

Program Director

Sessions:
Track 1: My Genetic Test Says VUS: What’s Next?

Michele is the Program Director of the UDNF Patient Navigation Program. Before coming to the UDNF, Michele was a pediatric nurse, leader, and manager in an academic hospital setting for nearly 20 years. After a 6 year diagnostic odyssey, Michele’s son, Mitchell received a diagnosis of a new ultra-rare disease through whole genome sequencing and model organism studies at the UDN. Mitchell died in 2019 and Michele draws on his memory daily as she works to support patients and families.

Christopher Hopkins, Ph.D.

Devinebio

Founder
Biochemist and Molecular Geneticist

Session:
Track 3: Overcoming the “Valley of Death” in Research

Chris is a Biochemist and Molecular Geneticist with a history of biotech entrepreneurialism. Chris formed two companies Knudra Transgenics and Axumbio, the first of which grew to be a market leader in CRISPR-editing of zebrafish and C. elegans and was acquired by InVivo Biosystems. Next, Chris then founded Devinebio to help meet the need of Patient Advocacy Groups (PAGs). By co-owning Special Purpose Exit Company (SPEC) with a PAG, the partnership turn drug leads into valuable drug assets.

Michael Hund

EB Research Partnership (EBRP)

CEO

Session:
Track 3: Overcoming the “Valley of Death” in Research

Michael Hund, CEO of EBRP since 2017, expanded EB clinical trials from 2 to 40+. His venture philanthropy approach helped fund the first FDA-approved EB treatment in 2023. Formerly at Multiple Myeloma Research Foundation, he led the $100M Curing Cancer Now campaign and served at Paul Newman’s Hole in the Wall Gang Fund. Michael holds an MBA from Yale, CORe from Harvard, and a Philosophy degree from Kansas. He has received multiple innovation awards and lives in Connecticut with his family.

Erica Jones

Simons Searchlight

Outreach Manager

Session:
Track 2: Moderator: Master Rare Disease Conference Planning

Erica brings 15+ years of experience in communications, partnerships, outreach, and events. As Outreach Manager at Simons Searchlight, she forges impactful community connections, spearheads awareness campaigns, and leads educational outreach efforts. Her expertise in recruitment, engagement strategies, and public speaking enhances brand visibility and fosters community involvement. Erica holds a Master of Arts in Communication and has earned awards for her leadership in the non-profit sector.

Paloma Juarez

EveryLife, RDLA, Pompe Community

Advisory Committee Member, Advocate Mentor

Session:
Track 2 (D2A): Empowering Advocacy: Federal, State & Patient Insights

Paloma is the proud mother of Vaun, 8 y/o, and twins Koen and Zavier 3 y/o. Vaun and Koen have Pompe disease, a glycogen storage disorder affecting muscle function. Much of Paloma’s early advocacy was on the importance of Newborn screening programs and the opportunities gained from timely diagnosis and intervention. She was an advisor on EveryLife’s economic study “The Cost of Delayed Diagnosis” She is currently working with Rare X and Pompe.Community on a data collection project for Pompe.

Richie Kahn

Canary Advisors

Co-Founder & COO

Session:
RARE Advocacy Summit
Track 1: Living with Visible and Invisible Disabilities

RARE Health Equity Forum
Diversity in Clinical Trials: What’s Working, What Isn’t?

Richie Kahn is a public health professional by training, a clinical researcher by trade, and a patient advocate by necessity. He is intensely passionate about incorporating patient perspectives into the clinical development process, ultimately reducing the time it takes to bring promising new therapeutics to the patients who need them most.

Bridgette Kelleher, Ph.D.

Purdue University

Associate Professor
Psychological Services

Session:
Track 1: Help for the Rare Caregiver

Dr. Bridgette Kelleher (she/her) is an associate professor of psychological sciences and serves as Director of the Purdue Autism Research Center. She obtained her Ph.D. from the University of South Carolina (2015) after completing her APA-certified clinical residency at the Medical University of South Carolina/Charleston Consortium. Kelleher’s internationally-recognized research program focuses on optimizing clinical outcomes in “high risk” populations, with particular focus on using technology-driven solutions to assess and treat families affected by rare disorders.

Annie Kennedy

EveryLife Foundation for Rare Diseases

Chief of Policy and Advocacy

Session:
Track 2: Moderator: Understanding Newborn Sequencing and Screening (NBS)

A veteran leader in the rare disease patient-focused drug development movement, Annie has led landmark legislative, regulatory, newborn screening, transitions, health economic, and access policy efforts. She joined the EveryLife Foundation in 2018, after holding leadership roles at Parent Project Muscular Dystrophy (PPMD) and the Muscular Dystrophy Association (MDA). She is a sought-after advisor to patient-centered organizations and initiatives across the nonprofit and government sector.

Bret Koncak

mejo

Rare Dad and Co-Founder

Session:
Track 1: Help for the Rare Caregiver

Healthcare was always central given Bret’s 20+ years working in healthcare technology. He was often out at hospitals visiting with doctors, nurses, and administrators as part of his previous executive role at Cerner (now Oracle Cerner), a large healthcare IT company.

​While his background was immensely helpful in understanding healthcare, it didn’t fully prepare his family for everything they needed to know when both of his sons were impacted by sudden, acute, & severe rare diseases. Experiencing healthcare from the viewpoint of the caregiver rather than the provider or patient was eye opening.  That is why he joined Ryan in his mission to deliver tools and solutions like mejo that are purpose built for caregivers so they can do what they do best-take care of their loved ones! Bret is a Dad, Rare Disease Caregiver and Co-Founder. He lives in Kansas City, KS with his wife and 3 kids.

Kerry Jo Lee, Ph.D.

U.S. Food and Drug Administration (FDA)

Associate Director for Rare Diseases
Center for Drug Evaluation and Research (CDER)

Session:
Expanding Momentum at NCATS and the FDA

Jeff Levenson, D.D.S.

Adult Polyglucosan Body Disease Research Foundation

Co-President

Session:
RAREly Told Stories Film Screening
“Life Through a Lens”

Jeff Levenson is co-president of the APBDRF. The foundation was established in 2005 shortly after Jeff lost his father and uncle to APBD. APBD is a neurodegenerative, monogenic, glycogen storage disease (type IV) which mimics MS. Jeff is a general dentist, practicing in Midtown Manhattan for 40 years. He is also a dog trainer, avid gardener and enjoys cooking creative vegan dishes. With this documentary, he and his child, Ronete, make their directorial debut.

Danny Levine

Global Genes

Lori Renna Linton

European Reference Network for Rare Neurological Diseases (ERN-RND)

Rare Disease Advocate and Filmmaker

Sessions:
Track 2: Disability and Access
Track 1: Career Considerations for Rare Adults

RAREly Told Stories film screening:
“Pass Me the Potatoes, Please”

Lori Renna Linton has been a Patient Advocate in the ERN-RND representing Hereditary Spastic Paraplegia (HSP) since 2017. She co-created the Patient Journey for HSP. Lori’s documentary, Pass Me the Potatoes, Please was chosen by the Rarely Told Stories team and will be screened this week. Her goal is to challenge the perception of People Living with a Rare Disease. She is also an English Literature teacher in the International Baccalaureate program at a public school in Austria.

Rob Long

Uplifting Athletes

Rob Long
Executive Director
Uplifting Athletes

Session:  Health Equity In Action: Health Equity Grant Recipients & RDDC Fellows

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.

Sunitha Malepati

CACNA1A Foundation

Shruti Mitkus, Ph.D.

Global Genes

Director, Patient Services

Session:
Track 3: Moderator: Is Our Community Ready for Gene Therapy?

Shruti is the Director of Patient Services, and has over 20 years of experience in human molecular genetics. She earned her doctorate in Human Genetics from the University of Maryland Baltimore and completed her post-doctoral training at the National Institute of Mental Health researching the genetic mechanisms of schizophrenia and bipolar disorder. Having worked on pharmacogenomics in new drug development for neuropsychiatric disorders, Shruti went on to focus on genetic diagnostics for rare disorders and worked as a variant curation scientist at GeneDx where she helped rare disease patients by coordinating genetic testing and analyzing DNA variants to determine if they were pathogenic or benign.

While Shruti loves the science of genetics, she is most passionate about translating her knowledge of genetics in an approachable and accessible manner. She is an ardent believer in the power of education to empower and ultimately improve the lives of rare disease patients.

When she’s not busy with her work, Shruti enjoys spending time with her family, trying new recipes and visiting new destinations.

Kasha Morris, M.S.

TANGO2 Research Foundation

Co-Founder

Sessions:
Track 3: Unlocking the Future: The Vital Role of Natural History Studies

After 30 years of service in public education Kasha now focuses her time and efforts on the mission of the TANGO2 Research Foundation to lead the way in finding a cure. She co-founded the foundation in 2018 after her son was diagnosed. Kasha serves on the board of directors and the Executive, Community Outreach, Research and Conference Planning committees. Kasha lives on a farm in Connecticut where she loves cut flower gardening.

Megan Nolan

Rare Parenting Magazine

CEO/Editor-in-Chief

Session:
Moderator
Track 1: Help for Rare Caregivers

Megan Nolan is the Founder/Editor-in-Chief of Rare Parenting magazine as well as the mother to a very disabled little boy with FOXG1 Syndrome. Prior to her son’s birth, Megan worked in luxury marketing and advertising with hundreds of brands, such as Prada, Vogue, LVMH, L’Oréal, Apple and ABC TV. Her career came to a sharp halt when her son was born, temporarily ending it. Megan later reignited her career by launching Rare Parenting to of utilize her career to benefit the disability space.

Claudia Parker

Claudia Parker Portraits

Mom | Entrepreneur| Filmmaker

Session:
Track 1: RAREly Told Stories Workshop

RAREly Told Stories Film Screening:
“Rarely Have You Seen a Fox Like This”

As the founder and head of Claudia Parker Portraits INC., a renowned photography and video production company serving K-12 school districts in the Chicagoland area, Claudia has established herself as a visionary storyteller. With a keen focus on visual storytelling, Claudia dedicates herself to crafting unique projects tailored to her clients’ specific audiences. Claudia is also an accomplished director and the creative force behind the award-winning web series “Five Minutes of Faith.”

Effie Parks*

Once Upon a Gene

Piper Paul

Piper Paul Law

Attorney

Session:
Track 1: Your Child’s Rights: IEPs and 504s

Attorney Piper Paul takes a hands-on approach and relies on families to be part of the team to reach a just resolution for pending matters. She is admitted to practice in both Connecticut and New York state courts, as well as federal courts, and she has extensive legal experience in representing students with and without disabilities at both the secondary and post-secondary levels.

Attorney Paul is able to connect with her clients’ interests because, as a parent, she understands firsthand the desire to provide children with the best foot forward in life. She completed her legal education at Brooklyn Law School and went to work as an Assistant District Attorney with the Queens District Attorney’s Office in New York. After taking time to parent her children, Attorney Paul launched her own firm where she practiced education, disability, family, and criminal law. Now primarily focused on education-related matters, Attorney Paul spends her days advocating for those who need it most. Whether she’s filing appeals for accommodations in standardized testing for persons with disabilities or representing a student in a disciplinary hearing, is dedicated and works passionately for your family’s needs.

Ashley Point

Koolen-de Vries Syndrome Foundation

President

Session:
Track 2: Master Rare Disease Conference Planning
Track 3 : Is Our Community Ready for Gene Therapy?

After graduating from the University of Kentucky, Ashley worked in national political fundraising for 10 years before attending medical school at Marshall University. After two years, she left medical school to stay home with her three children. Ashley’s middle child Davis (born 2017) was diagnosed with Koolen-de Vries Syndrome (KdVS) at 16 months old. She serves as President of the KdVS Foundation and My Kool Brother Foundation. Ashley and her family currently reside in Wilmington, NC.

Raymond Puerini, M.P.H.

Milken Institute

Associate Director
FasterCures

Sessions:
Track 3: Becoming Research Ready
Know (and Build) Your Strength as a Research Partner

Raymond Puerini is a Director on the FasterCures team at the Milken Institute. He currently leads FasterCures’ nonprofit capacity-building portfolio, including The Research Acceleration and Innovation Network, LeadersLink, and the Rare As One Mentorship Program, as well as FasterCures’ patient engagement work. He has held past roles at NACCHO, local and federal public health agencies, and in the pharma industry. He is an alumnus of Wesleyan University and Emory University.

Stephanie Riordan

EveryLife Foundation for Rare Diseases

Director of Patient Programs

Sessions:
Track 2: Empowering Advocacy: Federal, State & Patient Insights

Stephanie Riordan is the Director of Patient Programs at the EveryLife Foundation for Rare Diseases. She oversees Rare Artist, the #RAREis Scholarship Fund, and Rare Hub. Diagnosed with a rare neurological disease in 2015, Stephanie is dedicated to helping others in the rare disease community, finding her greatest joy in connecting with advocates to foster their skills and hear their stories. Before joining EveryLife, she worked at The Children’s Inn at NIH and the Make-A-Wish Foundation.

James G. Robinson

New York Times

Author and Director of Data Products

Session:
Opening Plenary: More than We Expected: Five Year with a Remarkable Child

James G. Robinson has spent nearly two decades at The New York Times. He has also taught expository writing at NYU and is currently an adjunct professor at Columbia Journalism School.

In 2017, his article “Road to Recovery” was featured on the front page of the Times’ Sunday Travel section. Describing a road trip his family took after the death of his five-year-old son, the piece inspired him to write his debut memoir, More Than We Expected, published by Post Hill Press in November 2023.

Luke Rosen*

KIF1A.ORG

CO-Founder

Session:
Track 2: Activate Your Community

Luke is a community leader relentless in his mission to support those living with rare diseases. In 2016 Luke & Sally founded KIF1A.ORG following their daughter Susannah’s diagnosis of KIF1A, a rare and degenerative disease. In 2024 he started Rescue 7 to provide cost-free housing for families traveling to receive treatment. Rescue 7 supports advocacy groups through integrity and traditions of the New York Fire Service. He is a firefighter in NY where he lives with Sally and their two children.

Joni Rutter, Ph.D.

National Center for Advancing Translational Sciences (NCATS)

Director

Session:
Plenary: Expanding Momentum at NCATS and the FDA
Track 3: Looking for the Common in Rare

Joni L. Rutter, Ph.D., is the director of the National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health (NIH). She oversees the planning and execution of the center’s complex, multifaceted programs that aim to overcome scientific and operational barriers slowing the development and delivery of new treatments and other health solutions.

Rutter received her Ph.D. from the Department of Pharmacology and Toxicology, Dartmouth Medical School, Hanover, New Hampshire, and completed a fellowship at the National Cancer Institute within the Division of Cancer Epidemiology and Genetics.

Kat Schmolly, MD

zebraMD

Founder

Session:
Track 3: Using AI to Improve Rare Diagnosis

Kat started developing predictive models from EHR data to reduce diagnostic delays in rare disease when she was in Medical School at UCLA, beginning with Acute Hepatic Poprhyria. She then founded zebraMD to create the technology to be able to use these predictive models in clinical practice especially in the community and primary care on a wide scale, without the need for EHR data sharing. Kat is currently a physician scientist resident at Dartmouth with plans for a medical genetics fellowship.

Stacey Seeloff

Rady Children’s Institute for Genomic Medicine

Director Strategic Alliances

Session:
Track 2: Understanding Newborn Sequencing and Screening (NBS)

Stacey Seeloff has served as the Director of Strategic Alliances for Rady Children’s Institute of Genomic Medicine in San Diego since 2022. Her passion for pediatric patients and improving health outcomes is key to her success in managing the BeginNGS Consortium, a public-private membership group working to advance newborn screening by whole genome sequencing. Ms. Seeloff has more than 25 years of experience in the clinical and life science industry through many large global companies.

Bina Maniar Shah

Project8P

Founder, CEO, President of the Board of Directors

Session:
Track 2: Innovative Funding Strategies

Noah Siedman

BDSRA Foundation

Rare Sib and Database & Community Manager

Session:
Track 1: Moderator: Rare Kids and Sibs

Noah Siedman is a rare sibling and advocate who became a part of the rare disease community when his younger brother, Ben, was diagnosed with Sanfilippo Syndrome.

Years of fundraising, advocating and speaking about Ben and his own experience, Noah has been working to share insights from the patient experience for his whole life.

As an advocate he takes a data driven, strategic approach to the rare disease experience while still taking the time to speak on his personal experience as a sib.

Amanda Singleton, MPH, ScM, GCG

GeneDx

Clinical Lead: Biopharma Partnerships

Session:
Track 2: Working Together for Advocacy, Research and Therapies

Kristin Smedley

Curing Retinal Blindness Foundation

Founder and CEO

Session:
Track 2: Moderator: Disability and Access

Kristin Smedley is a visionary leader who empowers individuals, teams, and organizations to unlock their hidden potential and gain a competitive edge. Kristin, a TEDx speaker, best-selling author, nonprofit founder x2, business owner, and acclaimed filmmaker, leaves audiences on their feet cheering and wanting more of her energy and influence.

Kristin has spent her lifetime studying people that succeed without sight and discovering those repeatable systems and strategies that cause a competitive advantage.

As a single mom with a signature smile that has raised three children (two of which are blind) to surpass all grim expectations and out- achieve everyone around them, Kristin leaves a lasting impact on those fortunate enough to experience her powerful presentations.

Charlene Son Rigby, MBA

Global Genes

CEO

Session:
Opening Keynote: A Father and Leader Who Transformed How We Think About Rare Disease
Moderator: Think Like a Start-Up: Grow your Patient Advocacy Group
Closing Plenary: Creating a Global Ecosystem for Rare Disease Knowledge

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.

Abigail Sveden, M.S., C.G.C.

Boston Children’s Hospital

Genetic Counselor

Session:
Track 1: Moderator: My Genetic Test Says VUS: What’s Next?

Abigail is a licensed genetic counselor and Translational Genomic Medicine Specialist at the RSZ Translational Neuroscience Center at Boston Children’s Hospital. In her current role, Abigail focuses on natural history studies, variant interpretation, and translational research for rare neurodevelopmental disorders. Through this work, Abigail has developed a passion for variants of uncertain significance and their resolution, recognizing the barriers they create for families and researchers alike.

Zohreh Talebizadeh, PhD

Global Genes

Senior Director, RARE-X Research Program
Global Genes

Session:
The Critical Need for Patient-Led Data Initiatives: Does Size Matter?

Zohreh Talebizadeh leads the RARE-X Research Program as Senior Director and serves as the Principal Investigator for RARE-X. Over the past two decades, her research endeavors  have focused on neurodevelopmental disorders, genetics, epigenetics, data science, and patient-centered outcomes research. Her collaborative spirit shines through her strong partnerships with diverse stakeholders, including patient advocates. With over 15 years of experience leading multidisciplinary research projects, Zohreh’s passion for patient-centered research led her to launch a unique initiative promoting the integration of patient perspectives in genetics research.

Zohreh earned her PhD in Genetics from the University of Nebraska Medical Center in Omaha, NE, where she focused her research on the genetics of hearing loss. As a postdoctoral fellow at Children’s Mercy Hospital (CMH) in Kansas City, MO, she deepened her expertise in rare genetic disorders related to neurodevelopmental conditions. Prior to her current role at Global Genes, she served as a Translational Research Manager at the American College of Medical Genetics and Genomics, contributing to the NICHD-funded Newborn Screening Translational Research Network program.

Beyond her professional pursuits, Zohreh has dedicated her personal time and resources to championing human rights causes, amplifying the voices of the marginalized. This has deepened her appreciation for the significance of prioritizing community needs and fostering equity and diversity.

Brooke Thomas

Alabama Rare

Chief Programs Officer

Session:
Track 3: Understanding Newborn Sequencing and Screening (NBS)

Brooke originates from deep in the heart of Texas, but has called the Alabama Gulf Coast home since 2017. She and her husband Mich have three children with MPS I, Hurler Syndrome, a rare disease caused by the lack of the enzyme alpha-L-iduronidase.

In her professional life, Brooke has worked in non-profit management and advocacy training organizations across the Southeast. As a parent advocate, Brooke’s focus is building inclusive communities, healthcare equity, and supporting the needs of patients & caregivers.

Karmen Trzupek*

Global Genes

Senior Director, Scientific Programs

Session:
Track 3: Looking for the Common in Rare

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.

Soniya Vadher-Patel

Social Media Influencer, Entrepreneur, and Mental Health Advocate

Session:
Track 1: Living with Visible and Invisible Disabilities

Soniya is a South Asian, UK-based social media influencer, entrepreneur and mental health advocate. She is also a wife and a mother of two. Soniya was born with an ultra-rare medical condition called Familial Chylomicronaemia Syndrome (FCS). FCS affects 1 to 2 in a million and is incurable. Those with FCS have difficulty metabolizing or absorbing fat due to a shortage in the enzyme lipoprotein lipase.

Soniya is a fierce and highly motivational individual whose aim is to help people face challenges in their own lives. She does this by being open and raw to let others see how she turned her pain into her passion.

Shannon von Felden, M.P.P.

EveryLife Foundation for Rare Diseases

Senior Director of Advocacy

Sessions:
Track 2: Empowering Advocacy: Federal, State & Patient Insights

Shannon von Felden is the Senior Director of Advocacy at the EveryLife Foundation for Rare Diseases. Shannon has led Rare Disease Legislative Advocates (RDLA) for over six years and works with rare disease advocates across the country to engage at the local, state, and federal levels. She began her career on Capitol Hill working on health care and veterans’ affairs issues. Shannon has worked with national nonprofit organizations to further their policy and advocacy goals including JDRF.

Yael Weiss, Ph.D.

Mahzi Therapeutics

CEO
Track 3 (D2A): Overcoming the “Valley of Death” in Research

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.

Michele Whiteside*

Global Genes

John Wilbanks

Broad Institute

Head of Product, Data Sciences Platform

Session:
Closing Plenary: Creating a Global Ecosystem for Rare Disease Knowledge

John Wilbanks is a leading voice in software, data, and systems to accelerate science. As the Head of Product at the Data Sciences Platform at the Broad Institute, he leads efforts to develop scalable data science solutions for biomedical research. Prior to joining the Broad, he was the Chief Commons Officer at Sage Bionetworks, where he worked to develop open-source tools for informed consent, sharing biomedical data, and promoting collaborative research.

Mark Wilhelm

Troutman Pepper

Partner

Session:
Track 2: Thinking Like a Start-Up: Growing Your Patient Advocacy Group

Mark is a Partner in the Corporate and Securities Practice Group of the law firm Troutman Pepper Hamilton Sanders LLP, where he represents domestic and international public and private companies in all aspects of corporate and securities transactions across a wide variety of industries, including pharmaceutical and life sciences. Mark also maintains an active pro bono practice where, among other matters, he represents nonprofits in their negotiation of strategic and commercial transactions.

Anneliese Williams

EveryLife Foundation for Rare Diseases

Advocate

Session:
Track 2: Empowering Advocacy: Federal, State & Patient Insights

Anneliese Williams, a Master of Public Health student at Purdue University, conducts global pediatric oncology research to improve access to care worldwide. Diagnosed in 2022 with Guillain-Barre Syndrome, characterized by ascending paralysis, she discovered a passion for advocacy. Anneliese is a Young Adult Rare Representative, received a #RAREis scholarship, and participated in Rare Disease Week, Rare Artist, and the YARR Leadership Academy to promote legislative change for the rare community.