Charlene Son Rigby

CEO

Charlene Son Rigby has spent her career building organizations at the intersection of data, technology, and life sciences. Charlene 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. She is committed to finding a cure for her daughter’s disorder. 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 and given her work deeper meaning. Charlene joined RARE-X because she firmly believes that a platform approach is crucial to transforming and accelerating therapy development across rare diseases. She holds a B.A. in Human Biology from Stanford University and an M.B.A. from the Haas School of Business at U.C. Berkeley.

Nicole Boice

Founder & Chief Mission Officer

Nicole Boice is a committed champion of families affected by rare disease. She founded Global Genes in 2008 and grew it into one of the most notable rare disease advocacy organizations focused on educating and empowering patients/advocates throughout their journey. Impact includes a membership of over 750 patient organizations, collaborations with over 100 biopharma and academic research partners, numerous support programs and educational events. RARE-X grew out of the need to provide more tools and resources for families needing to become better equipped data stewards and participants in research. A board member of several patient organizations and advisory roles within Biopharma, Nicole remains an important voice for rare disease patients globally.

Lauren Alford

Senior Director, Marketing & Communications

Experienced strategic marketing & digital engagement professional with 14 years of
experience in healthcare, specializing in patient/caregiver and provider communications, content
marketing, and B2B. Thrives at the intersection of marketing, sales, and partnerships, creating
integrated strategies and campaigns to engage supporters, patients, and HCPs. Strong, creative leader who works well
independently, collaboratively, and managing a team. Proven record of identifying and developing opportunities and creating
partnerships to support business initiatives.

Lauren Alford email

Rachel Barron

Senior Manager, Health Equity

As Senior Manager of Health Equity, Rachel is focused on diversity, health equity, and social inclusion within the rare disease community. Prior to joining Global Genes, she spent 6 years working in Rare on the marketing side in orphan drug development before joining the Peace Corps where she worked with youth aged 10 to 24 on prevention of HIV / AIDS and malaria in Mozambique, southeast Africa. Since coming back from Moz, Rachel worked as a team supervisor, overseeing 20 contact tracers with the contact tracing initiative in New York State, in effort to help prevent the spread of COVID-19 in her community.

Rachel is passionate about social and environmental justice, and supporting patients and families find their voice both within and outside the Rare community. In her spare time, she enjoys camping and hiking with her dog, baking, traveling and cycling to discover new places.

Lara Bloom

Strategic Advisor

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, hypermobility spectrum disorders (HSD), and related conditions.

Lara manages coordinated medical collaboration, raising funds for research, and focusing on the global progression of EDS and HSD. She speaks at conferences all over the world, lecturing to medical students and professionals, and supports specialists in the field by offering her experience as a leading Patient Expert. Commemorating ten years in the field of patient advocacy, Lara was officially appointed a Professor of Practice in Patient Engagement and Global Collaboration at Penn State College of Medicine, USA, on March 11, 2020.

Shelby Carney

Program Manager

Mary Cobb

Program Director

Mary joined RARE-X in November 2020 and brings years of leadership experience in rare disease patient advocacy; strategic planning, marketing & communications; organization strategy & development; nonprofit leadership; and patient engagement. Since 2010, Mary has been dedicated to empowering rare disease patient advocacy groups to increase their organizational effectiveness and ability to integrate their patient communities’ voices in research. She established PatientVue, LLC to support the rare disease community and was also in a leadership position with NORD for several years. She is currently on the Board of the Foundation for Sarcoidosis Research and was on the Board of the Phelan-McDermid Syndrome Foundation for over four years.

Previously, Mary was in senior leadership roles at global healthcare communications agencies within the Interpublic Group of Companies and WPP. She developed strategic & communications initiatives for the pharmaceutical/biotech industry, including Pfizer, Novartis, J&J, Wyeth/Schering, and Barr Pharmaceuticals (now Teva), among others.

Cobb has a Masters in Organization Development & Change from American University, Washington, DC.

Tina Dang

Research Associate

Daniel DeFabio

Director, Community Engagement

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.

One of Daniel’s stories about Lucas won the 2015 Rare Patient Story Award from Global Genes. His award-winning 12 minute documentary on Menkes Syndrome is narrated by Oscar nominee Mary McDonnell. In 2008 he founded the Ballston Spa Film Festival. He was a pioneer of original content online (now called web series) and co-wrote and co-produced the internet’s first animated series. He has created videos and marketing materials for American Cinematographer, PBS, RightRice, bio-techs, hospitals, most major movie studios, TNT’s “The Closer” and HBO’s “Curb Your Enthusiasm” among others.

Daniel DeFabio email

Maria Della Rocca, MS, PMP

Senior Director, Support & Education Programs

Maria is the Senior Director of Support & Education Programs and is focused on assisting individuals and caregivers living with a rare disease navigate the diagnostic odyssey and the journey that follows. With more than 18 years of experience of working with the rare disease community, she is familiar with the challenges faced by those affected with rare diseases and is passionate about providing information and support “every step of the way,” reducing the number of years to obtain a diagnosis, and achieving health equity.

Maria is a bilingual genetic counselor and collaborative project manager with more than 18 years of experience working with the rare diseases community. 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 National Institutes of Health (NIH).

In her spare time, she enjoys volunteering, hiking, and traveling.

Nick Ehly

Program Coordinator

Nick Ehly is from Glenside, PA and is a Temple University graduate with two Bachelor of the Arts degrees in Sociology and English Literature & Creative Writing, with three years of various research, communications, administrative, coordination, and editing experience. His most recent position was with Pioneer Academics as a Program Coordinator where he coordinated research programs for several cohorts of international high school students conducting academic research in various fields. Prior to that he was a Communications Leader and Research Assistant for Fierro Consulting LLC and Home for Good Coalition, aiding in the organization’s evaluation of various social programs and specifically working to advocate for children, families, and communities impacted by the current foster care system as well as other social systems.

Nick Ehly email

Tim Ehrhard

Senior Director, IT

Tim is a graduate of Rochester Institute of Technology. He spent twenty years at Merrill Corporation, a global leader in financial and document services, and was honored to be part of the creation and implementation of several business changing platforms, departments, and teams in that time. He enjoyed filing IPOs for hundreds of new startups, and compliance filings to the SEC for Fortune 1000 companies and Mutual Funds. Tim was part of the discovery and development team that built the first virtual deal room on the market, which still stands as a leader in the industry over a decade later. He was the key IT leader in restructuring an international translations company, replacing internal processes and systems to achieve efficiency, growth, and profitability. Tim has also worked for a Hong Kong based global relocations company as the domestic IT Director, and was CIO with a start-up business supplying a content and inventory management system to support sales of premium brand cars (Porsche, Land Rover, Rolls Royce, Jaguar, BMW, and McLaren. The application served close to 1000 different dealership websites from a single platform. Most recently, Tim spent the last 5 years working as the Director and head of IT for the National Organization for Rare Disorders working on all internal systems, websites, and registry products. Tim is excited to continue contributing to the Rare Community as the Sr Director of IT at Global Genes. He will be focusing on the advancement of technology for the cause and do work that truly gives back to the rare community needs.

Mindy Gikas

Human Resources Advisor

Mindy Gikas has devoted her entire career to elevating the value and reputation of the talent and human resources functions for a variety of industries. As a true business partner, she is sought after by the C-Suite and executive leaders for her straight-forward advice and counsel helping them to be more effective leaders and managers of the business.  

Mindy spent her entire career in human resources leadership roles in a variety of industries including public relations, biotech and hospitality. More recently Mindy devotes her time to providing HR consulting services to smaller companies as well as leadership and career coaching to individuals.

Jade Gosar

Intern, Data Analytics

Jade joined RARE-X as a Data Management and Analytics intern in January of 2022. Previously, she worked for a startup accelerator focused at the intersection of technology and sports. Jade graduated from the University of Notre Dame in May of 2022 where she received her Bachelor’s degree in Business Analytics and is currently pursuing her M.S. in Business Analytics from the University of Utah while enjoying getting the opportunity to work in the non-profit sector.

Lisa James

Associate Director, Strategic Advancement

Lisa joined Global Genes in 2011 as an Outreach Manager where she managed the 7,000 Bracelets for Hope Program. Since then, her role and responsibilities have evolved to reflect her skills in technology system analysis and data management. As the Manager of Technology, Lisa handles the organization’s extensive database and platform integrations.

Before joining Global Genes, Lisa worked as a systems analyst for Park Electrochemical Corporation, a global manufacturing company. She holds a Bachelor of Arts in Business Administration, with an emphasis on information technology from California State University, Fullerton. A proud mother of three, Lisa enjoys spending time with her family and paddle boarding.

Lisa James instagramLisa James linkedinLisa James email

Bethany Kraynack

Finance and Operations Lead

Bethany joined RARE-X in January 2020, and brings nearly 20 years of finance, operations, marketing and branding experience to the team, with specific expertise in building and managing non-profit organizations and advocacy alliances.

In addition to her role with RARE-X, Bethany is also Chief Financial Officer of Adjuvant Partners, a business development and strategic advisory consultancy specializing in advanced therapeutics, including cell and gene medicine and AI enabled healthcare. Through her work with Adjuvant, she currently oversees finance and operations for the Alliance for Artificial Intelligence in Healthcare (AAIH) and the ARM Foundation for Cell & Gene Medicine, where she was previously Treasurer (2018) and a member of the Board of Directors (2018 and 2019).

From 2012 – 2020 Bethany served as Vice President of Operations for the Alliance for Regenerative Medicine (ARM), a global advocacy organization representing the cell and gene therapy sector. At ARM, she oversaw all aspects of operations, finance, HR, IT and events, helping grow the organization’s membership from ~80 stakeholders to over 350, and expanded the annual operating budget from less than $1M to $8.5M during her tenure. Bethany was also instrumental in the development of ARM’s conference and event portfolio, including their flagship meeting, the Cell & Gene Meeting on the Mesa, which is widely regarded as the preeminent conference in the sector.

Prior to ARM, Bethany spent seven years with CONNECT, a San Diego-based non-profit organization focused on accelerating the commercialization of new technology and life science companies and products. At CONNECT, Bethany worked closely with emerging companies and entrepreneurs, as well as academic researchers and institutions, to build and oversee a variety of programs and resources aimed at providing mentorship, education and capital for San Diego innovators.

Bethany is a native of Pennsylvania, where she graduated with a B.A. from Gettysburg College. She currently resides in La Jolla, CA with her husband and two daughters.

Cynthia Kuan

Director, Program Operations

Cynthia joined RARE-X in November 2021 and brings 14+ years of experience in building and managing non-profit programs.

She is passionate about accelerating treatments and cures for unmet medical needs and advancing their accessibility and affordability in a coherent and credible manner. Prior to RARE-X, she was a Program Director at the ARM Foundation for Cell and Gene Medicine, managing education material development and state-based rare disease programs. Previously, she was the founding business operations manager of the Sanford Stem Cell Clinical Center at UC San Diego. From 2014 – 2021, she helped secure over $71 million state funding for basic science, translational medicine, and clinical trials at UC San Diego. She also expanded the institution’s first regenerative medicine outpatient clinic, pivoting the clinic to its multi-specialty status. In addition, Cynthia serves on the executive board of the Association for Women in Science’s San Diego chapter, helping advance women in STEM fields.

Cynthia holds a B.A. and M.A. and is currently pursuing an MBA degree from the Haas School of Business at U.C. Berkeley.

Daniel Levine

Life Sciences Writer

Katherine Lim

Senior Manager, Digital Marketing

Kat comes to Global Genes with 10+ years of experience in healthcare marketing, specializing in strategic communication to providers through email marketing, community forums, and market research surveys. Her last role was with Sermo, a social network for doctors, where as the Email Marketing Director she led the strategy, delivery, and optimization of the company’s main engagement driver for its more than 800,000 members. As Senior Manager of Digital Marketing at Global Genes, she will be expanding on her email experience, leading the charge in supporting the marketing department through other digital marketing efforts.
Kat resides in Pittsburgh with her husband, cat, and dog. In her free time, Kat enjoys traveling, hiking, endurance races, yoga, and expanding her ever-growing collection of house plants.

Sravanthi Meka

Senior Manager, Content Marketing

Sravanthi has over 20 years of experience in marketing, specifically in sales and content marketing. She has spent the majority of her career in healthcare with a brief foray into higher education, and has taken a special interest in equity in both the education and healthcare industries. Throughout her career, she has proven successful in crafting a fluid narrative, conceiving engaging communications and marketing plans, creating content for digital media, and anticipating audience needs.

When she’s not updating the website or creating video content for Global Genes, Sravanthi and her dog can be found exploring their Midtown Atlanta neighborhood, or hiking trails all over Georgia. She is a traveler and history nerd with an unhealthy TBR pile of historical fiction and biographies.

Bridget Michaels

Coordinator, Community Support, RARE-X

Shruti Mitkus, PhD

Director, Genetic Education and Navigation

Shruti is the Director of Genetic Education and Navigation 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.

Mary Morlino

RARE Concierge Patient Services Manager

Mary Morlino joins our team as the RARE Concierge/Case Manager. Previously she worked at the EveryLife Foundation for Rare Diseases as a Patient Engagement Consultant. 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.   

Drawn to the world of rare disease advocacy because of her two nephews who have Muscular Dystrophy. Inspired by their efforts in disability advocacy, she continues to advocate for all rare diseases and disability issues. 

Mary is passionate about helping others to advance their advocacy efforts, connecting people to resources and opportunities that will help improve the quality of life for rare disease patients and continuing to fighting the good fight. 

In her spare time she enjoys watching movies, reading and tending to her excessive number of house plants.

Adriana Nelson

Associate Marketing Manager

Experienced creative and marketing professional with 5+ years of experience in marketing, communications and design, specializing in corporate communications, social media management and graphic design. As Associate Marketing Manager at Global Genes, she will be supporting the marketing department, and expanding on social media strategy and email marketing. Adriana resides in Orlando, FL and in her free time, she enjoys traveling, experiencing new things, spending time with her loved ones, and making digital art.

Megan O’Boyle

Patient Engagement Lead

Megan O’Boyle, BA is the Principal Investigator for the Phelan-McDermid Syndrome Data Network (PMS_DN, PCORnet) and the Phelan-McDermid Syndrome International Registry (PMSIR). She serves as a patient advisor on the NIH Council of Councils, the Simon’s Foundation – SPARK project, is a former advisor to the NCATS Advisory Council, and several PCORI awards including FasterCures and Academy Health. She advocates for data sharing, collaborating with other advocacy groups, sharing resources and streamlining IRB practices and policies.

As the Patient Engagement Lead for RARE-X she brings her decade of experience in advocacy to help patient groups develop and govern their new Data Collection Efforts within RARE-X. Megan knows firsthand about the challenges that patients and patient communities face collecting and sharing their data. She is passionate about the need for the rare disease community as a whole to collect standardized data (ask the same questions) to allow for cross-disease research. She believes that having data collection developed and maintained at NO COST to the patients and patient communities is imperative to removing the barriers to finding treatments and cures for rare disease. Keeping the patient at the center of all decisions and efforts of RARE-X is Megan’s priority and mission.

Kathy O’Connor

Senior Director, Corporate Engagement

As the Director of Corporate Engagement, Kathy O’Connor leads corporate development goals and maintains vital corporate relationships on behalf of Global Genes. Since joining Global Genes, Kathy has been instrumental in executing several programs, including the Annual Denim Dash and the RARE Patient Advocacy Summit, each continuing to help eliminate the challenges of rare disease.

Before joining Global Genes, Kathy earned her degree from the University of California, Santa Barbara and spent more than 15 years in development, holding positions with AT&T and Dun & Bradstreet. In her free time, you’ll find Kathy enjoying the beach and watching her children compete in soccer and volleyball.

Kathy O’Connor linkedinKathy O’Connor email

Katelyn Peters

Manager, RARE-X Community Engagement

Katelyn joined RARE-X in June 2022 and brings experience in marketing and communications for nonprofit organizations. She first was introduced to the Rare Disease Community while interning at Global Genes in 2017. Her experience at Global Genes inspired her to declare Nonprofit as her minor in college and has been working in the industry ever since.

Previously, she worked for the Down Syndrome Community and is passionate about accessibility and inclusion for all.

Nikki Richards

Senior Manager, Brand

Nikki blends creativity, design and brand identity as the Senior Brand Manager. Working closely with the marketing team, Nikki oversees all print and digital awareness pieces, crafting imagery to inspire the rare community. 

Nikki Richards linkedin

Andrea Rogers

Project Lead

Andrea Rogers is an accomplished IT Program and Project Manager with more than 25 years experience in healthcare IT project management. She has extensive expertise in facilitating collaboration across multiple stakeholder groups to achieve strategic objectives. She is passionate about driving innovation in the use of data to improve healthcare.

Previously, Andrea was an IT Program Manager in Real World Technology Solutions for IQVIA. Her responsibilities included implementation and management of multiple registries for a worldwide association of surgeons focused on improving quality and patient outcomes. At Encore Health Resources, she was instrumental in the design, development, implementation and support of multiple software applications to facilitate meaningful use and quality measure reporting. Andrea co-founded i.s.edge, inc. a software company that developed and implemented The Project Network, a web-based project management tool. She has worked as a consultant with healthcare organizations including MD Anderson Cancer Center and Tenet Healthcare in software selection, implementation, optimization and process improvement.

Andrea has a Bachelor’s degree from Texas A&M University in Applied Mathematical Sciences. She lives in The Woodlands, Texas.

Reneiry Santiago

Program Coordinator

T Schad

Clinical Research Network Assistant

T joined Global Genes in October of 2023. They previously worked as a Research Assistant focusing on Neuromuscular Diseases and Pediatric Neurology. They are excited to learn more about the rare disease community and help find breakthrough treatments for these communities.

Kristin Soto

Associate Director, Development

Kristin comes to Global Genes after spending more than a decade in education. Her time as a teacher motivated her to be trained in the Lindamood Bell reading therapies, eventually inspiring her to work with a speech pathologist to establish The Johnson Academy, a school for dyslexic students. After developing many school programs and therapies there, Kristin continued to follow her passion for service and joined the Global Genes team as the Development Coordinator where she assists the corporate engagement team with key partnerships and relationship building.

Kristin received her Bachelor of Arts from the University of California Santa Barbara, where she majored in psychology. In her free time, she likes to run, hike and spend time with her three daughters.

Kristin Soto linkedinKristin Soto email

Pam Todd

Educational Resource Strategist

Pam has worked in the rare disease space for 14 years, providing patients, caregivers and leaders with resources, tools and information customized to meet their unique needs. She is committed to creating rich and accessible content to help organizations build capacity, support patients and families, engage in scientific collaborations and advance treatment development. Pam is also an award-winning author and lives on an 80-acre centennial farm in Michigan.

Pam Todd email

Karmen Trzupek, MS, CGC

Senior Director of Scientific Programs

Karmen Trzupek is a passionate and innovative leader in rare disease programming, with experience in academia, telemedicine, advocacy, and industry. At Rare-X, Karmen develops collaborative ecosystems and partnerships to maximize the Rare-X data platform for the advancement of patient advocacy groups and industry-supported therapeutic pipelines. Previously, Karmen served as the Director of Clinical Trial Services at InformedDNA, supporting patients with genetic diseases to navigate clinical trial eligibility and enrollment through partnerships between biotech companies, patient advocacy groups, and academic and community clinics. 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.  She holds a B.S. in Microbiology from the University of Illinois and an M.S. in Genetic Counseling from Northwestern University.

Ugochukwu “Ugo” Ugwuowo, MD

Data Analyst

Ugochukwu serves as research analyst for Global Genes/Rare-x. He has worked as a researcher in academia where he used data to improve health outcomes. He is passionate about using health data and advanced analytics to advance understanding of rare diseases. Ugochukwu holds an M.D (Medical Degree) from the University of Nigeria and an MPH (Public Health) from Southern Connecticut State University.

Vanessa Vogel-Farley

Senior Director of Research and Data Analytics

Teneasha Washington, PhD, MPH

Diversity, Equity, & Inclusion Lead

Teneasha Washington is the Founder and CEO of The Washington Group, where she consults and provides expertise in various areas such as grant development, program implementation, diversity, equity, inclusion, rare disease, and many other public health strategic areas of focus. Some of her projects include creating an intervention program manual for Hispanic young women regarding the uptake of better health practices. Also, she attained the first sustainability rating for the City of Birmingham by achieving a three-star status for the Sustainability Tracking Assessment & Rating System (STAR) program. Her current research focuses on serving as the lead of community engagement efforts for the Mindfulness, Exercise, Nutrition, to Optimize Resilience (MENTOR) program. In this role, she develops funding opportunities for local communities and provides training focused on community engagement. She is also a QM-certified professor teaching undergraduate and graduate students in the UAB School of Public Health on social and behavioral sciences, community organizing, intervention development, and research methods. In previous roles, she has served as a facilitator of multiple grants focused on maternal and child health among mothers at the Jefferson County Committee for Economic Development (JCCEO), diabetes and high blood pressure interventions among African Americans, needs assessments related to health, education, safety, and economic security; mixed-methods studies, evaluation of university nursing school programs, and church interventions for connecting communities to health care resources. Washington holds degrees from UAB (BS, Biology; MPH, Public Health; Ph.D., Health Education/Health Promotion, Public Health).

Barry Weber, CIPP/US, CISM, ITIL

Data Protection Officer(DPA)/Chief Information Security Officer (CISO)

Barry Weber joined RARE-X in April 2022 as the Chief Information Security Officer (CISO) and Data Protection Officer (DPO). He leads the Global Genes privacy and data security compliance initiatives for EU GDPR, UK GDPR, US and other country specific privacy laws. He holds ITIL, CISM and CIPP certifications.

Prior to joining Global Genes, Barry was a privacy and data security consulting leader for organizations including those delivering background check, CPA and ecommerce services. And he has a multi-industry technology leadership history as CIO for Barnes and Noble, Lieberman Research, and Columbia Pipe and Supply and consulted for PwC and Unisys. He is a member of the Society of Information Management (SIM) and IAPP and participates in the FBI InfraGard program.

As a pastime, Barry enjoys officiating soccer games for all ages, teaching and mentoring referees.

Victoria Weiss

Senior Director, Finance

Victoria holds a bachelor’s degree in Mathematics from the University of California, Santa Barbara, and an MBA degree from Dartmouth College. She has spent her 15+ year post MBA career in a Finance and Operations capacity. She spent the majority of her career working with large, multi-national, high tech companies.

In 2018, Victoria decided to leave the for-profit corporate environment and use her skills to support non-profit, mission-based organizations. She has worked as a Finance and Strategy Executive for three different non-profit organizations that support education, animal welfare, and now healthcare with Global Genes. Victoria is personally passionate about all these causes and enjoys dedicating her time to helping organizations that make a difference.Victoria also serves as a board member for the nonprofit, Nurse’s Educational Funds, Inc.

Kelly Wentworth

Research Coordinator

Michele Whiteside

Director, Programs & Events

Betsy Bogard

Head of Program and Alliance Managemen, Ensoma

Betsy Bogard works in the rare disease community to enable development of transformative therapies. Her younger brother Jud was born with a rare genetic disease, inspiring her to make a difference for patients and families facing debilitating conditions. She is currently the head of program and alliance management for Ensoma, an emerging gene therapy company. She also chairs the Research Committee for the International FOP Association, a non-profit patient organization for the rare disease fibrodysplasia ossificans progressiva (FOP). Ms. Bogard has over 20 years of experience in biotechnology in areas that include portfolio and alliance management, program leadership, real world evidence, registries, health economics and patient community engagement. She has a master’s degree in health policy and management from the Harvard School of Public Health. Ms. Bogard lives in Somerville, Massachusetts with her two sons.

Nicole Boice

Founder & Chief Mission Officer

Nicole Boice is a committed champion of families affected by rare disease. She founded Global Genes in 2008 and grew it into one of the most notable rare disease advocacy organizations focused on educating and empowering patients/advocates throughout their journey. Impact includes a membership of over 750 patient organizations, collaborations with over 100 biopharma and academic research partners, numerous support programs and educational events. RARE-X grew out of the need to provide more tools and resources for families needing to become better equipped data stewards and participants in research. A board member of several patient organizations and advisory roles within Biopharma, Nicole remains an important voice for rare disease patients globally.

Wendy Erler

VP of Patient Experience, Alexion Pharmaceuticals

Ilana Fogelman, MD, MPH

MiCure

Simon Frost

CEO, Tiber Capital Group

Peter Goodhand

CEO, Global Alliance for Genomics & Health

Walt Kowtoniuk, PhD

Venture Partner, Third Rock Ventures, Board Chairman

Katherine Maynard

PWR

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.

David Pearce, PhD

President of Innovation & Research, Sanford Health Systems

David Pearce is President of Innovation and Research for Sanford Health. He completed his undergraduate Bachelor of Science Degree with honors in biological sciences at Wolverhampton Polytechnic in 1986. He gained his PhD in 1990 at the University of Bath, UK, and did postdoctoral training at the University of Rochester, U.S., and Oxford University, UK. Dr. Pearce heads the leading lab in Juvenile Batten disease research. He has been researching Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease) since 1997. His research has led to the first clinical trial for Juvenile Batten disease. He has published over 100 research papers on Batten disease. He also oversees a national registry for rare diseases known as the Coordination of Rare Diseases at Sanford (CoRDS). He has served on numerous NIH review committees, has organized rare disease workshops for the National Institute for Neurological Disorders and Stroke (NINDS) arm of the National Institutes of Health (NIH) and the vice chair of the International Rare Diseases Research Consortium (IRDiRC).

In his role as President of Innovation and Research at Sanford he is responsible for overseeing the development of research programs across Sanford’s nine-state footprint, including more than 450 researchers, eight research centers and more than 300 ongoing clinical trials. With this, he is also responsible for commercialization of select research strategies, as well as integrating Sanford Research operations into Sanford Health International Clinics. Driven by Dr. Pearce’s passion for developing patient-centered, impactful research programs Sanford Research is uniquely positioned to provide translational research that can bring important discoveries from bench to bedside, improving the quality of care.

John Reynders, PhD

Chief Technology Officer, Neuromora Therapeutics

With over 25 years of leadership experience in life sciences, data-sciences, and technology in organizations spanning early-stage biotechs, multi-national pharmaceuticals, and a top U.S national research laboratory, John Reynders established Reynders Consulting in 2020. Reynders Consulting is uniquely positioned to help companies innovate at the intersection of the life sciences and data sciences. Prior to starting Reynders Consulting, John led Alexion’s Data Sciences, Genomics, and Bioinformatics (DGB) organization in the design, building, and deployment of DGB solutions spanning R&D, Commercial, Strategy, and Business Development. John delivered key capabilities for Alexion including a novel graph-database of the entire rare-disease landscape annotated with prevalence, severity, competitive intensity, and genetic signature; a genomics-based rare-disease patient prevalence platform to inform licensing/acquisition opportunities; AI-based phenotype- and genome-driven rare-disease diagnosis decision-support systems; genomic-based analyses in support of clinical trial design; partnerships with commercial leaders to provide genomic and data-sciences insight in support of launch strategies; key opinion leader engagements in core therapeutic areas; and pathway/network analysis techniques to inform target selection across multiple discovery programs. John has received many industry recognitions including 2 BioIT Judge’s awards, a Rare Genes Champion of Hope award, publication in Science: Translational Medicine, part of the GUINNESS Book of World Records effort for fastest genetics-based diagnosis, and recognition by the National Human Genome Research Institute as a top 10 most significant advance for genomic medicine in 2019. John has a MBA from Northwestern University – Kellogg School of Management, a PhD in Applied and Computational Mathematics from Princeton University, and a Bachelor of Science degree in Mathematics from Rensselaer Polytechnic Institute.

Morrie Ruffin

Co-founder and Board Member, ARM Foundation for Cell & Gene Medicine

Mr. Ruffin has more than 25 years of experience in the regenerative medicine, biotech, and healthcare industries. Prior to founding Adjuvant Partners, he was the Chief Executive Officer of LifeTech Innovations, LLC, a business development consulting firm based in Bethesda, MD. Prior to his position at LTI, Mr. Ruffin was Executive Vice President of Capital Formation and Business Development at the Biotechnology Industry Organization (BIO), the largest trade organization representing the biotech and drug development industries. Joining BIO in 1994 as one of its original employees, Mr. Ruffin was responsible for building the organization’s global business development and investor outreach programs focused on helping companies raise capital and identify strategic partnering and licensing opportunities. This BIO business development franchise is now the largest in the world, with operations in the US, Europe, and Japan.

Mr. Ruffin has also founded and led several other key industry organizations in the life sciences sector, with a primary focus on cell and gene medicine and the application of artificial intelligence in healthcare. From September 2009 – December 2019, he co-founded, built and led the Alliance for Regenerative Medicine (ARM), the foremost global advocacy organization representing the interests of the cell and gene therapy and tissue engineering communities. In January 2018 he led the effort to establish the ARM Foundation for Cell and Gene Medicine and has served on its Board of Director’s and as the Executive Director since its launch. He also co-founded the Standards Coordinating Body for Regenerative Medicine and continues to serve on its’ Board of Directors and was founder and Board member of the Interoperable Informatics Infrastructure Consortium (I3C), an international standard setting body for the bioinformatics industry. Most recently, Mr. Ruffin co-founded the Alliance for Artificial Intelligence in Healthcare (AAIH) in 2019, a multi-stakeholder advocacy organization comprised of technology developers, pharma companies, and research organizations with a common goal of realizing the potential for AI in healthcare to significantly improve quality of care.

Prior to his work in the private sector, Mr. Ruffin worked for U.S. Senator Arlen Specter for five years as his senior legislative assistant. In his early career, he worked for the Systems Planning Corporation International and the Center for Strategic and International Studies. Mr. Ruffin received his MA in International Studies & Economics from the Johns Hopkins School for Advanced International Studies (SAIS) and his BA from the University of Virginia.

Alvin Shih, MD

President & CEO, Catamaran Bio

Alvin is an experienced biopharma executive with more than 15 years of clinical and drug development experience, encompassing the full spectrum from discovery/translational to post-marketing programs. He has worked in multiple therapeutic modalities, including cell/tissue therapy, enzyme replacement, and small molecule approaches. Alvin is a rare disease specialist with a successful track record in building and managing complex organizations to accomplish end-to-end drug development. Alvin was most recently President and CEO of Disarm Therapeutics. Prior to Disarm Therapeutics, he was CEO of Enzyvant Therapeutics, a development-stage biotechnology company. Prior to Enzyvant, he was Executive Vice President and Head of R&D at Retrophin, where he managed the development and progress of a diverse pipeline encompassing rare neurological and renal diseases. Earlier in his career, he was a founding member of Pfizer’s rare disease research unit. He was also previously a management consultant for L.E.K. Consulting and McKinsey & Company.
Alvin holds an M.D. from the University of Alabama and an MBA from the Kellogg School of Management at Northwestern University. He completed his residency training in internal medicine at Massachusetts General Hospital.

Sukirti “Suki” Bagal, MD, MPH

Vertex Pharmaceuticals

Sukirti Bagal, MD, MPH, is the Global Lead of Medical Affairs and Strategy for Vertex Pharmaceuticals, TRIKAFTA. She leads cross-functional product life cycle including pre-launch, launch and mature products. Prior to joining Vertex Pharmaceuticals, Dr. Bagal worked in similar roles at Pfizer, Purdue Pharmaceuticals, and National Organization for Rare Disorders (NORD). Before that, she was the director of emergency response at AmeriCares, and then director of strategic planning for the launch of AmeriCares India. Dr. Bagal is a well-known international public health physician and has been invited to speak at the United Nations on various public health topics.

Dan Chung, DO, MA

SparingVision

Dr Chung, Chief Medical Officer of SparingVision, is a highly respected healthcare leader with a demonstrated history working in the biotechnology industry, with experience spanning all phases of ocular gene therapy development, from pre-clinical studies through to clinical development and post marketing activities. Dr Chung joined Spark in 2014 and, as the company’s first ophthalmologist, was instrumental in the development of Luxturna™, the first in vivo gene therapy approved by the US Food and Drug Administration (“FDA”) for RPE65 related inherited retinal disease. He also later led the medical affairs group responsible for its safe and efficient use in patients. During his tenure at Spark, he served as the inherited retinal disease and ophthalmology expert across various company divisions, not only training preclinical staff for in vivo surgical procedures, but also working in medical affairs, clinical development, patient advocacy, marketing and commercial activities.

Before joining Spark, Dr Chung worked for 11 years at the Scheie Eye Institute within the Perelman School of Medicine at the University of Pennsylvania, specializing in gene based therapies for inherited retinal diseases and cilia mediated disease. Dr Chung received his medical degree from the New York College of Osteopathic Medicine in 1994 and undertook extensive postgraduate training at the National Eye Institute, Summa Health Systems and Cole Eye Institute at the Cleveland Clinic Foundation.

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.

Ilana Fogelman, MD, MPH

MiCure

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.

Dave Osterman, PhD

Retired, Alexion Pharmaceuticals

Dave Osterman is an experienced research professional with expertise in therapeutic research activities from target identification through early development. He is skilled at evaluation of therapeutic assets and leading high performing teams in Complement Exploratory Biology and in vitro and in vivo Pharmacology. Dave is retired from Alexion Pharmaceuticals, last serving as executive director.

David Pearce, PhD

President of Innovation & Research, Sanford Health Systems

David Pearce is President of Innovation and Research for Sanford Health. He completed his undergraduate Bachelor of Science Degree with honors in biological sciences at Wolverhampton Polytechnic in 1986. He gained his PhD in 1990 at the University of Bath, UK, and did postdoctoral training at the University of Rochester, U.S., and Oxford University, UK. Dr. Pearce heads the leading lab in Juvenile Batten disease research. He has been researching Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease) since 1997. His research has led to the first clinical trial for Juvenile Batten disease. He has published over 100 research papers on Batten disease. He also oversees a national registry for rare diseases known as the Coordination of Rare Diseases at Sanford (CoRDS). He has served on numerous NIH review committees, has organized rare disease workshops for the National Institute for Neurological Disorders and Stroke (NINDS) arm of the National Institutes of Health (NIH) and the vice chair of the International Rare Diseases Research Consortium (IRDiRC).

In his role as President of Innovation and Research at Sanford he is responsible for overseeing the development of research programs across Sanford’s nine-state footprint, including more than 450 researchers, eight research centers and more than 300 ongoing clinical trials. With this, he is also responsible for commercialization of select research strategies, as well as integrating Sanford Research operations into Sanford Health International Clinics. Driven by Dr. Pearce’s passion for developing patient-centered, impactful research programs Sanford Research is uniquely positioned to provide translational research that can bring important discoveries from bench to bedside, improving the quality of care.

Audrey Thurm, Phd

National Institute of Mental Health (NIMH)

Audrey Thurm, Ph.D., is Director of the Neurodevelopmental and Behavioral Phenotyping Service in the Office of the Clinical Director, part of the National Institute of Mental Health (NIMH)’s Intramural Research Program (IRP). After receiving a B.S. in human development from Cornell University, she received training in child clinical psychology at DePaul University, trained as an intern at Boston Children’s Hospital/Harvard Medical School, and conducted a post-doctoral fellowship at Johns Hopkins School of Medicine. She has been at NIMH since 2002, serving in the extramural program until 2006, at which time she moved to the IRP to engage in research on autism spectrum disorder (ASD) and other related neurodevelopmental disorders.

Royze Cachero

Global Liver Institute

Royze Cachero is the program manager at Global Liver Institute and an upcoming healthcare leader in the liver community who strives to become a leader of change through advocacy, policy, and healthcare management.

Known for her passion, aspirations, and diligence, Royze is committed to better healthcare and patient experience in the liver community. She works with Global Liver Institute to establish a network of collaborators to create a community of liver patients, families, providers, and advocates, and with multiple stakeholders around the world on global initiatives and campaigns.

Mary McGowan

Foundation for Sarcoidosis Research

Mary McGowan is the first chief executive officer of the Foundation for Sarcoidosis Research, and leads the organization’s strategic vision with patient engagement, strategic partnerships, fundraising, advocacy efforts, program direction, and an aggressive communications and research agenda. Mary brings 35 years of nonprofit leadership and management experience to the role, previously having served as executive director at The Myositis Association. Mary has a master’s degree in Human Resources Development from George Washington University and a B.A. from Trinity University.

Isaac Rodriguez-Chavez, PhD, MHSc, MSc

ICON plc

Dr. Isaac R. Rodriguez-Chavez is a biomedical leader with expertise in Infectious Diseases, Viral Immunology, Viral Oncology, and Vaccinology. His experience covers the entire life cycle of medical products from basic, preclinical, interventional clinical research (phase I – IV), non-interventional clinical research, and post-marketing studies. Currently, he is a SVP,  Scientific & Clinical Affairs, and Head, Global Center of Excellence Strategy for DCTs, ICON. He has a PhD in Virology and Immunology; a MS in Microbiology; a MHS in Clinical Research; and a B.S. in Biology.

Rodney Samaco, PhD

Baylor College of Medicine

Dr. Samaco serves as an Assistant Professor and Director of Rodent Neurobehavioral Core Facilities at the Baylor College of Medicine. His research program focuses on optimizing the framework for preclinical readiness of rare disease models. His team evaluates the natural history of disease in genetically modified rodents to identify measures that may serve as surrogate endpoints. By fostering collaborations across the landscape of patient advocacy, academic, and industry groups, he strives to advance community-based participatory approaches in the research and development of actionable therapies for RAREs. He received his Ph.D. in Philosophy Genetics from the Baylor College of Medicine and Bachelor’s degree in Genetics from U.C. Davis.

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.