Andrea C. Furia-Helms
M.P.H., Director, Patient Affairs Staff, Office of Clinical Policy and Programs, Office of the Commissioner, U.S. Food and Drug Administration
Andrea Furia-Helms is the Director of the Patient Affairs Staff in the Office of Clinical Policy and Programs, Office of the Commissioner. In her role, she collaborates with patient communities, the FDA medical product Centers and other offices to incorporate patient and caregiver perspectives in cross-cutting regulatory meetings. Ms. Furia-Helms spent over ten years in the FDA’s Office of Health and Constituent Affairs where she directed the FDA Patient Representative Program and coordinated patient engagement activities for the agency.
Prior to FDA, Ms. Furia-Helms was Director of the Back to Sleep (now Safe to Sleep) campaign, a public-private partnership to educate communities on Sudden Infant Death Syndrome (SIDS), at the National Institutes of Health. She developed SIDS outreach initiatives for African American, American Indian and Latino communities.
Ms. Furia-Helms has a B.A. in psychology from Framingham State University, a B.S. degree in community health education from University of Maryland, and a Master of Public Health degree from The George Washington University.
Alan J. Balch
PhD, CEO, National Patient Advocate Foundation
Dr. Balch has over fifteen years of executive leadership in the non-profit sector with an emphasis on consensus-building and collaboration. He has led numerous federal advocacy efforts on a range of issues both at the legislative and regulatory level. He became the CEO of both NPAF and PAF in 2013. From 2006 – 2013, he served as the Vice President of the Preventive Health Partnership — a national health promotion collaboration between the American Cancer Society, American Diabetes Association, and American Heart Association. Prior to 2006 Dr. Balch was the Executive Director of Friends of Cancer Research.
Dr. Balch has served on the Executive Board of the Patient Advocate Foundation and National Patient Advocate Foundation since 2007. He also serves on numerous advisory boards and committees.
He earned his PhD in environmental studies with a concentration in political economy in 2003 from the University of California, Santa Cruz; master’s degree in environmental sciences in 1997 from the University of Texas in San Antonio; his bachelor’s degree (cum laude) in biology in 1994 from Trinity University in San Antonio.
VP, Global Market Access & Patient Services, Ovid Therapeutics
Raquel has over ten years of experience across a variety of healthcare industry sectors in the US and Europe. Raquel is passionate about working with patients, clinicians, and payers at all stages of product development to address true unmet needs and ensure access.
Prior to joining Ovid, Raquel was Director of Global Market Access at GE Healthcare, based in London. In this role she led a global team responsible for market access and health economics for new product introductions from the company’s imaging technology portfolio across all therapy areas. At GE Healthcare, Raquel focused on demonstrating the value of innovative technology through research, customer partnerships, digital marketing, and sales support.
Prior to GE, Raquel was a member of Medtronic’s EMEA health economics and reimbursement team, based in Switzerland. Before joining industry, she was a neuropsychology specialist at Cogstate, a cognitive science start-up, and Columbia University Medical Center where she led operations for federally funded studies that evaluated the specificity of cognitive testing to diagnose Alzheimer’s Disease among minorities.
Raquel earned her MSc in International Health Policy and Health Economics from the London School of Economics and earned her BA in Psychology and French, cum laude, from the University of Pennsylvania. She is also a member of the University of Pennsylvania Fund executive board.
President, Curing Retinal Blindness Foundation
Kristin Smedley’s two sons were diagnosed soon after birth with a rare blindness. Although Kristin was initially paralyzed with fear of raising two blind children, she launched an extraordinary mission to change their bleak future ahead. She worked with education systems in multiple states in which she lived to get her sons the tools they needed to achieve in public schools.
Her children have become popular, accomplished athletes, high achieving students, talented musicians, and International Braille competition finalists. Her oldest son, Michael has achieved Dean’s List in his first two college semesters.
In 2011 Kristin founded the only patient organization in the world for her sons’ inherited retinal disease. CRB1.org is a global leader in changing what a rare eye disease diagnosis means, and Kristin is a sought-after speaker and collaborator in the field.
Kristin recently published her first book, Thriving Blind: Stories of Real People Succeeding Without Sight. It hit #1 New Release in Kindle and Paperback on Amazon.com.
David A Pearce
PhD, President of Innovation, Research, & World Clinic, Sanford Health
David Pearce is President of Innovation, Research, & World Clinic 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 is currently the vice chair of the consortium assembly for the International Rare Diseases Research Consortium (IRDiRC).
As President of Innovation, Research, & World Clinic at Sanford, he oversees the development of research programs, including more than 450 researchers, eight research centers and more than 300 ongoing clinical trials.
MS, MA, Senior Researcher, Division of Medical Ethics, NYU Grossman School of Medicine
Lisa Kearns, MS, MA, is a senior researcher in the Division of Medical Ethics at NYU Grossman School of Medicine. She is a member of the Division’s working groups on Compassionate Use and Preapproval Access (CUPA) and Pediatric Gene Therapy and Medical Ethics (PGTME). For the past six years she has studied the ethical issues surrounding preapproval/expanded access to investigational drugs, including state and federal “right to try” legislation. More recently she has been studying the ethics of “bespoke” N-of-1 gene therapies and of preapproval access to gene therapies. Since March she has been researching the ethical allocation of drugs, vaccines, and medical equipment during the novel coronavirus pandemic and access to investigational and unproven therapies for Covid-19. She is the deputy chair of the Compassionate Use Advisory Committees (CompAC), which advise Janssen Pharmaceuticals on the ethical allocation of its investigational drugs.
CEO & Founder Pulse Infoframe Inc.
Dr. Femida Gwadry‐Sridhar is the Founder and CEO of Pulse Infoframe Inc. She has her PhD in Research Methodology, Health Economics, McMaster University. She is a pharmacist, epidemiologist and methodologist with over 25 years of experience in clinical trials, disease registries, knowledge translation, health analytics and clinical disease outcomes. She founded the first knowledge translation health informatics lab in North America in 2006, creating a collaborative ecosystem for interdisciplinary research. In 2008 this facility, I‐THINK research, developed a physical and virtual platform to support multidisciplinary research. The platform has evolved to enable the integration of clinical, imaging and histopathology data.
Pulse Infoframe has developed healthieTM, a revolutionary evidence-based platform transforming rare disease and cancer clinical research and treatment. Pulse’s SaaS data platform is becoming the de facto standard for real work evidence, meeting an urgent regulatory requirement. Pulse builds multi-stakeholder collaborative networks of pharmaceutical companies, researchers and patients and enables stakeholder access to clinical trials, input on trial design, new treatment development, and accelerated research. Pulse captures, organizes, analyzes, curates and shares existing and unique data using its industry leading and scalable data-sharing platform powered by AI and machine learning.
Under Dr. Gwadry-Sridhar’s guidance Pulse has developed a global presence. Pulse has collaborated with international funding agencies advancing the requirements for rare disease registries. Collecting relevant and actionable data in rare disease is essential. Pulse has addressed relevant questions about data sharing, governance, ontologies and patient reported outcomes- all key to understanding and enabling the development of real-world evidence. DrGwadry-Sridhar is a life-long collaborator and has done so across different disciplines and cultures. This experience has resulted in a comprehensive understanding of the value of collaboration to fast-forward progress and improve lives everywhere.
Principal Investigator, Phelan-McDermid Syndrome International
Megan is the parent of a 20-year-old daughter with Phelan-McDermid Syndrome (PMS). This diagnosis includes autism, intellectual disabilities, epilepsy, ADHD, and other medical conditions. She is the Patient Engagement Lead at RARE-X, a nonprofit rare disease data platform in addition to being the Principal Investigator for the Phelan-McDermid Syndrome Data Network (PMS_DN, PCORnet) and the Phelan-McDermid Syndrome International Registry (PMSIR). Megan is passionate about the value of the patient’s voice in: research, drug development, clinical trial design, development of related legislation, and quality of life decisions. She advocates for data sharing, collaborating with other advocacy groups, sharing resources and streamlining IRB practices and policies.
Monica L Weldon
President/CEO/Founder Bridge the Gap - SYNGAP Education and Research Foundation
In November of 2012, Monica’s twin son, Beckett, was the first to be diagnosed at Texas Children’s Genetics Clinic with the gene mutation SYNGAP1 (6p21.3). When Beckett was 4 months old, she noticed he was not meeting the same milestones as his twin sister. Monica then began a journey to find answers to help her son. She started to blog about his progress and this led to building a community of parents and caregivers that are now a strong support group. She is the Founder and President/CEO of Bridge the Gap – SYNGAP Education and Research Foundation. It is her passion to help support these families by raising awareness and creating a strong foundation that will accelerate a path to better therapies.
She retired in 2016 after 23 years in education teaching secondary science. Her new focus is on building the programs and mission of Bridge the Gap – SYNGAP Education and Research Foundation. She is the Primary Investigator on the SYNGAP1 (MRD5) Registry and Natural History Study. She is a life member of the Worldwide Association of Female Professionals and a member of the first class of 2017 Illumina Ambassadors established in the United States. In addition to leading the foundation, she is an author, public speaker, consultant on rare disease business strategies and advocates for rare disease legislation at both the federal and state levels. Several of her authored scientific publications include Nature Neuroscience, The Journal of Neurodevelopmental Disorders, and The Journal of Pediatrics. She has authored a book about her son Beckett’s diagnostic journey called “Slow Moving Stream – My Special Boy”. She is a graduate from East Texas Baptist University with a Bachelor’s of Science in Biology/Psychology (1991) and Secondary Certification in Education (1995). She will be attending Northwestern University Pritzker School of Law in the Fall of 2020 to earn her Masters in Science Law. She has five beautiful children, Haleigh (28), Taylor, USMC (25), Sawyer (23), and the twins Beckett & Pyper (12). She was a Global Genes 2015 & 2016 RARE Champion in Advocacy Award nominee for her work in the rare disease community and WeGo Health Awards Nominee for years 2015, 2017, 2018, 2019, & 2020. She was named 2020 Global Shakers Rare Disease Champion.
Dr. Neena Nizar
Founder and Executive Director, Jansen's Foundation
Dr. Nizar serves as Founder and Executive Director of the Jansen’s Foundation. She is a rare disease advocate and Change Leader in the rare disease community, specifically in the field of ultra-rare skeletal dysplasias. Dr. Nizar has a Doctoral degree in Educational Leadership from Creighton University, Nebraska, is a TEDx speaker, a blogger and passionate voice for the special needs community. She is a Trailblazer for the Rare Advocacy Movement (RAM) and Nebraska’s Mother of The Year, 2018. Dr. Nizar is also a rare disease patient and a mother to two boys with Jansen’s Metaphyseal Chondrodysplasia – a disease that affects less than 30 people worldwide.
Director of Advocacy, Cholangiocarcinoma Foundation
Melinda Bachini, is an 11-year survivor of cholangiocarcinoma. She was treated at the National Cancer Institute starting in 2012 with a clinical trial using Adoptive Cell Therapy. Due to her exceptional and breakthrough response to treatment at NIH, her story was published in the New York Times and other media.
Melinda is married and the mother of six children, grandmother to one. She is passionate about patient advocacy. Her personal experience with previous and current treatments allows for great insight to patients participating in clinical trials. Her position as Director of Advocacy for the Cholangiocarcinoma Foundation, allows Melinda to interact, support and educate others touched by this cancer. She shares her story with as many cancer patients as possible in hopes of giving courage to those in need.
Melinda had previously volunteered for seven years with the Cholangiocarcinoma Foundation and in August of 2017 came on as staff. She also worked for over 15 years in the Emergency Medical Field as an EMT Paramedic.
Melinda serves as patient advocate for the NCI Hepatobiliary Task Force, the NCI Patient Advocate Steering Committee (PASC), ECOG-ACRIN GI Committee, ECOG-ACRIN Cancer Research Advocacy Committee, and the NCRA. Melinda attended the 2016, 2017, and 2018 NCCS, CPAT Symposium and advocated on Capitol Hill. She participated as a panelist in the Cancer Moonshot – Community Oncology Event at the White House, told her personal story and was introduced by her state Senator for the Innovation and Access in Quality Cancer Care at the US Capitol. In June of 2017 she spoke with nine US Senators at NIH to share her personal story of how research has prolonged her life. Melinda has served as a Consumer Reviewer for the Department of Defense for several years.
Pharm.D., M.S., Rare Disease Advocacy Professional, Rare Advocacy Movement, Chief Executive Officer, Blaze Therapeutics
Nadia Bodkin, Pharm.D., M.S. is a seasoned rare disease patient advocate, born with three main rare conditions herself. Immediately after graduation, Nadia went straight into rare disease patient advocacy through EDSers United, a foundation she founded as a student. Nadia has held leadership positions at several rare disease advocacy focused organizations assisting in everything between nonprofit management to event planning. She is currently the Chief Executive Officer for Blaze Therapeutics and is one of the founding members of New Love Ventures. Nadia also founded and currently facilitates the coordination of the Rare Advocacy Movement’s activities along with her fellow RAM colleagues.
As a result of being born with rare genetic conditions herself, Nadia put her medical education and research background to use and was able to effectively expand her life expectancy, while co-founding several rare disease and humanity-focused philanthropic initiatives. Nadia functions on the premise of making the most of the time that one has on Earth; and she is doing just that by dedicating her efforts towards improving the lives of those affected by rare conditions, U.S. Veterans, and other like-minded individuals through novel patient advocacy initiatives and innovative multi-stakeholder collaborations.
Founder & CEO, Volv Global
Christopher has over 20 years of experience as a technology entrepreneur and business advisor, having worked for many Blue-Chip organisations helping solve their critical global scale data problems.
Highlights of his career:
Christopher has also been a strategic advisor for the W3C and works with start-ups on innovation in the human-centric web. He has an agile innovative mind-et derived from a wealth of problem solving for customers and ability to adapt to the needs of the customer. Data science, AI and data are the lifeblood of Volv and Christopher is excited to be bringing their cutting-edge offerings to market. Volv’s mission is to speed science, reduce the cost of healthcare and so enhance the economic output and well-being for all.
Angela Ramirez Holmes
Founder/President, Cal Rare
Angela Ramirez Holmes started her advocacy in rare diseases in 2013 when her then 8 year old son Andrew was diagnosed with a rare brain condition, an arteriovenous malformation or AVM. Angela is the founder and president of Cal Rare, a non-profit coalition of rare disease stakeholders dedicated to improving the lives of rare disease patients in California. Cal Rare started the California Rare Disease Legislative Caucus and was able to secure $2 million in the 2018 budget for a Whole Genome Sequencing Pilot Project for undiagnosed pediatric patients. In 2018, Angela was the recipient of the Rare Voice Award for State Advocacy from the EveryLife Foundation. She is the Principal of Alliance Campaign Strategies, a political consulting and public affairs firm working on local campaigns and issues. Angela has nearly twenty years of political and legislative experience on the national, state, and local levels. She is also an elected official, currently serving her second term on the Board of the Zone 7 Water Agency. Angela graduated from Saint Mary’s College of California with a B.A. in Politics and U.S. History.
Executive Vice President, Europe & Asia-Pacific, EVERSANA
With more than 25 years of experience in the life science industry, Mike has held global leadership positions in both clinical development and life-sciences software companies. Given this experience, he is highly experienced in the use of technology and understands its impact in simplifying the process of developing and delivering novel therapies and making them more accessible to patients around the world. He has worked with many biotech and pharmaceutical companies to develop clinical pathways that deliver upon the ultimate commercial goals required to ensure success for all stakeholders. Mike speaks at many global industry events to promote the idea of innovation in healthcare and to encourage a greater level of partnership between healthcare stakeholders. Expertise: Consulting (Strategy Management & Regulatory), Stakeholder Engagement & Promotion (Patients, Payers, Providers).
Chief Operating Officer, Illingworth Research Group
Helen Springford has over 28 years’ experience in the Clinical Trials arena. Having worked as a nurse in cardiac transplantation in the UK and Australia, Helen moved into clinical research in 1992, initially as a research nurse. Since then, she has managed an SMO and held various positions in both CROs and big pharma within several functional areas including Clinical Operations, Project Management, Business Development and Proposals. Helen was appointed Vice President, Strategic Development at Illingworth Research in August 2016 and was promoted to Chief Operating Officer in April 2019. Helen has always promoted the patient as an active participant in their care and has brought this to the current role where patient focused solutions such as mobile research nursing allows people, irrespective of their geography or state of health to participate in clinical trials. Patient empowerment, whether adult or child is an important part of Helen’s work and has been something of personal interest throughout her career.
MD, PhD, Co-Founder, Chief Scientific Officer, Genomenon
Dr Kiel completed his MD/PhD and Molecular Genetic Pathology Fellowship at the University of Michigan, where his research focused on stem cell biology, genomic profiling of hematopoietic malignancies, and clinical bioinformatics. He is the founder and CSO of Genomenon, where he supervises the scientific direction of the Mastermind suite of software tools.