Speakers

Shazia Ahmad is a senior director of the Patient and Physician Services Team at United BioSource LLC (UBC). She has more than 20 years of experience in the therapeutic development industry and is a seasoned thought leader in the rare disease space. Previously, she served as a study coordinator at the National Institutes of Health (NIH), where she coordinated intramural clinical trials across the various institutes including the National Institute of Allergy and Infectious Diseases (NIAID), National Institute of Neurological Disorders and Stroke (NINDS), and the National Cancer Institute (NCI). Her work included direct parent/patient family interaction across various indications. Shazia is dedicated to various patient-focused organizations, which is reflective in her work as a board advisor at the HPV Alliance. Her desire to improve healthcare drives her efforts to develop solutions that are both accessible and inclusive. Her passion for the diverse people of the rare disease community continues to drive her work though the implementation of patient advocacy initiatives. She received her B.S. in physiology and neurobiology from the University of Maryland.

Pius A. Aiyelawo, M.P.A., FACHE, is the chief operating officer (COO) at the National Institutes of Health (NIH) Clinical Center and is the first COO of the hospital whose responsibilities include research and clinical care domains. He served more than 27 years in the U.S. Navy, culminating his career as the assistant deputy director of research and development at the Bureau of Medicine and Surgery in Falls Church, Virginia. He also was an adjunct assistant professor of preventive medicine and biometrics at the F. Edward Hébert School of Medicine at the Uniformed Services University of the Health Sciences in Bethesda, Maryland. During his military career, he served as the commanding officer of the Navy’s largest overseas hospital, the U.S. Naval Hospital Okinawa in Japan. Mr. Aiyelawo also has served as executive officer at the Naval Hospital Camp Lejuene, North Carolina; deputy director of medical resources, program, and policy at the Office of the Chief of Naval Operations in Washington DC; and acting chief/deputy chief of the Program Budget Office, TRICARE Management Activity. Following his retirement from the U.S. Navy as a captain, he was a senior program director at General Dynamics Health Solutions in Silver Spring, Maryland. He received his B.A. in management science from Alaska Pacific University, Anchorage, and his master’s in public administration from the University of Alaska, Anchorage. He completed his diploma in National Security, Joint Professional Military Education Phase I, at the Naval War College. He is board certified and a fellow of American College of Healthcare Executives.

Christopher P. Austin, M.D., is the director of the National Center for Advancing Translational Sciences (NCATS) at the U.S. National Institutes of Health (NIH). NCATS’ mission is to catalyze the generation of innovative methods and technologies that will enhance the development, testing, and implementation of diagnostics and therapeutics across a wide range of human diseases and conditions. Before becoming NCATS director in September 2012, he was the director of the NCATS Division of Preclinical Innovation, which focuses on translating basic science discoveries into new treatments, particularly for rare and neglected diseases, and developing new technologies and paradigms to improve the efficiency of therapeutic and diagnostic development. In this role, Dr. Austin founded and directed numerous initiatives including the NIH Chemical Genomics Center (NCGC), the Therapeutics for Rare and Neglected Diseases (TRND) Program and the Toxicology in the 21st Century (Tox21) Program. From 2016 to 2018, he was the elected chair of the International Rare Diseases Research Consortium (IRDiRC). Before joining NIH in 2002, Dr. Austin directed research programs at Merck on genomics-based target discovery, pharmacogenomics, and neuropsychiatric drug development with a particular focus on schizophrenia. He received his A.B. in biology from Princeton University and his M.D. from Harvard Medical School. Dr. Austin completed clinical training in internal medicine and neurology at Massachusetts General Hospital and a research fellowship in developmental neurogenetics at Harvard.

Timothy Babich is the co-founder, with his wife Monica, of the RUNX1 Research Program, a medical foundation dedicated to RUNX1-FPD, an inherited predisposition to leukemia. In addition to his responsibilities at the foundation, he founded and manages Nexxus Holdings, an investment firm primarily dedicated to managing his investments. In addition, he serves on the board of the University of California, Santa Barbara's community arts program, Arts and Lectures, and on the board of the Santa Barbara Soccer Club youth soccer organization. In 2006, Tim founded and was CEO of Fortelus Capital Management, a London-based, multibillion-dollar investment manager focused on European special situation investments. Fortelus’s fund won numerous awards in the hedge fund industry and its returns outpaced peers and benchmarks. In addition, he was the founder and chairman of FCM Bank, a European-based, online challenger bank. Prior to starting Fortelus, he was a member of Silver Point Capital General Partner LLC of Silver Point General, a special situations fund based in Greenwich, Connecticut. He joined the founder in early 2001 when the founder retired as head of the Global Special Situations Group of Goldman Sachs. He was asked to relocate to London to set up a European business in 2004, where he hired and built out a team of investment professionals before leaving to start Fortelus. Prior to joining Silver Point Capital, Tim held positions at Goldman Sachs and JP Morgan. He received his B.S. in finance, summa cum laude, from the Wharton School and his B.A.Sc. in in computer sciences from the University of Pennsylvania as part of the Management & Technology (M&T) dual degree program. He received his M.B.A. summa cum laude from the Wharton School and currently serves as chairman of the board of the M&T Program.

Congressman Gus M. Bilirakis (R-FL) is a Republican from Palm Harbor, representing Florida’s 12th Congressional District, which includes all of Pasco and northern parts of Pinellas and Hillsborough counties. He was first elected to Congress on November 7, 2006. Gus serves on the Energy and Commerce Committee and the Veterans’ Affairs Committee. He is the Ranking Member of the VA Economic Opportunities Subcommittee and a Member of the VA Disability Assistance and Memorial Affairs, Health Subcommittee and Communications and Technology Subcommittee. With 27 bills he authored signed into law between 2015 and 2018, Congressman Bilirakis was recently designated as the Most Effective Lawmaker in the State of Florida by the Center for Effective Lawmaking at Vanderbilt University. Working in a bipartisan manner, his main priorities include controlling government spending, creating jobs for middle class Americans, finding ways for government to operate smaller and smarter, and lowering taxes. He is also committed to strengthening homeland security, improving education, increasing access to quality health care, lowering the cost of prescription drugs, protecting Veterans’ benefits, ensuring the long-term viability of Social Security and Medicare, and improving emergency preparedness and response. 

Nadia Bodkin, Pharm.D., M.S., is a seasoned rare disease patient advocate, born with three genetic rare conditions. She went straight into professional advocacy work after graduation through a foundation she founded as a pharmacy student, EDSers United. Since entering the rare disease advocacy space through the Ehlers-Danlos Syndrome community, she has held numerous leadership positions with various rare disease advocacy-focused organizations developing a variety of community-based campaigns and initiatives, all of which have always had one main goal in common: supporting the rare disease community’s best interests. Through her work conducting landscape analysis, nonprofit research and development strategies, digital health community development and engagement, rare disease therapeutic development, and so much more, she decided to found the Rare Advocacy Movement in an effort to streamline communications and collaborative network opportunities.

Carsten G. Bönnemann, M.D., is a senior investigator and chief of the Neuromuscular and Neurogenetic Disorders of Childhood Section in the National Institutes of Health’s (NIH’s) Neurogenetics Branch of the National Institute of Neurological Disorders and Stroke (NINDS). Clinical, genomic, and translational work in the Section centers in particular around early onset neuromuscular disorders such as the congenital myopathies and congenital muscular dystrophies and on the development of molecular and gene-directed treatment approaches to these conditions, including first-in-human intrathecal and intravenous AAV-mediated gene transfer trials. He also is an adjunct full professor of neurology at the University of Pennsylvania School of Medicine. He is co-editor-in-chief of the Journal of Neuromuscular Diseases and has authored more than 300 papers, reviews, and chapters in the field of pediatric neuromuscular and neurogenetic disorders. Previously he was co-director of the Neuromuscular Program and director of the Pediatric Neurogenetics Clinic at Children’s Hospital of Philadelphia/University of Pennsylvania School of Medicine. Dr. Bönnemann was a Pew Fellow in the Biomedical Sciences and received the Derek Denny-Brown Neurological Scholar Award from the American Neurological Association. He graduated from medical school at the University of Freiburg in Germany. He trained in pediatrics in Hamburg and Göttingen, where he was awarded the habilitation/venia legendi in pediatrics, and in neurology/child neurology at Massachusetts General Hospital/Harvard Medical School in Boston. He did postdoctoral research in genetics and neuromuscular specialty training at Boston Children’s Hospital/Harvard Medical School.  

Congressman G. K. Butterfield (D-NC) is a life-long resident of eastern North Carolina. Raised in Wilson, Congressman Butterfield spent his formative years attending Charles H. Darden High School and worked tirelessly in the Civil Rights Movement as a young adult. His parents were Dr. and Mrs. G. K. Butterfield, Sr. His father practiced dentistry for 50 years and served as one of North Carolina's first black elected officials since Reconstruction. His mother was a classroom teacher for 48 years. 

Congressman Butterfield graduated from college and law school at North Carolina Central University in Durham, North Carolina. After earning his law degree, Congressman Butterfield founded a law practice in Wilson and served the community in that capacity for 13 years. He is best known for his successful litigation of voting rights cases that resulted in the election of African-American officials throughout eastern North Carolina. 

In 1988, Congressman Butterfield was elected Resident Superior Court judge. In this role, he presided over civil and criminal court in 46 counties of North Carolina. For 2 years, he served on the North Carolina Supreme Court by appointment of the governor. Butterfield retired from the judiciary after 15 years of service and successfully ran for Congress. He was elected to serve the First District of North Carolina in the U.S. House of Representatives in a special election on July 20, 2004, where he continues to serve today. 

In Congress, Butterfield is a champion of affordable health care, education, investments in rural communities, veterans, renewable energies, and federal programs that support low-income and middle-class Americans.

Butterfield serves in the Democratic leadership as Senior Chief Deputy Whip and is a past Chair of the Congressional Black Caucus (114th Congress). He sits on the influential Committee on Energy and Commerce where he serves as the Vice Chair of the Subcommittee on Health. In addition, he serves as a member of the Subcommittees of Communications and Technology and Energy. Since the 116th Congress, Congressman Butterfield sits on the Committee on House Administration, and as of the 117th Congress, he was appointed to serve as Chair of the Subcommittee on Elections.  

Congressman Butterfield is a life-long member of Jackson Chapel First Missionary Baptist Church. He is a veteran of the U.S. Army and a proud father and grandfather.

Francis S. Collins, M.D., Ph.D., was appointed the 16th director of the National Institutes of Health (NIH) by President Barack Obama and confirmed by the Senate. He was sworn in on August 17, 2009. In 2017, President Donald Trump asked him to continue to serve as the NIH director. President Joe Biden did the same in 2021.  Dr. Collins is the only Presidentially appointed NIH director to serve more than one administration. In this role, he oversees the work of the largest supporter of biomedical research in the world, spanning the spectrum from basic to clinical research. Dr. Collins is a physician-geneticist noted for his landmark discoveries of disease genes and his leadership of the international Human Genome Project, which culminated in April 2003 with the completion of a finished sequence of the human DNA instruction book. He served as director of the National Human Genome Research Institute at NIH from 1993 to 2008. He is an elected member of both the National Academy of Medicine and the National Academy of Sciences, was awarded the Presidential Medal of Freedom in November 2007, and received the National Medal of Science in 2009. In 2020, he was elected a Foreign Member of the Royal Society (United Kingdom) and was named the 50th winner of the Templeton Prize, which celebrates scientific and spiritual curiosity. He received his Ph.D. in physical chemistry from Yale University and his M.D. from the University of North Carolina at Chapel Hill School of Medicine.

Tracy Dixon-Salazar, Ph.D., is a neuroscientist, geneticist, patient advocate, and Executive Director of the LGS Foundation. She has more than 20 years of nonprofit leadership and advocacy experience where she emphasizes the importance of targeting both the causes and symptoms of disease, spearheads efforts to make genomic sequencing available and understandable to patients and families, communicates the individual and collective patient experience to professionals, and seeks to reshape the future of medicine so others in rare disease may go further, faster. Her desire to get her Ph.D. was inspired by her daughter who developed uncontrolled epilepsy at the age of 2, which then evolved into the rare disease Lennox-Gastaut Syndrome (LGS) by the age of 5. During her research tenure, and after 16 years of watching daily, unrelenting seizures in her child, she uncovered the genetic driver of her daughter’s illness and identified a novel precision therapy that improved her child's life. She received her Ph.D. in neurology and neuroscience and performed postdoctoral work at the University of California, San Diego, where she studied the mechanisms of brain development and synaptic plasticity, identified genetic causes of rare disorders in children, and researched precision therapeutics in stem cell and animal models of pediatric brain disease. 

Jennifer A. Doudna, Ph.D., is the Li Ka Shing Chancellor’s Chair and a professor in the Departments of Chemistry and of Molecular and Cell Biology at the University of California, Berkeley. Her groundbreaking development of CRISPR-Cas9 as a genome-engineering technology, with collaborator Emmanuelle Charpentier, earned the two the 2020 Nobel Prize in Chemistry and forever changed the course of human and agricultural genomics research. This powerful technology enables scientists to change DNA—the code of life—with a precision only dreamed of just a few years ago. Labs worldwide have redirected the course of their research programs to incorporate this new tool, creating a CRISPR revolution with huge implications across biology and medicine. In addition to her scientific achievements, she is a leader in public discussion of the ethical implications of genome editing for human biology and societies and advocates for thoughtful approaches to the development of policies around the safe use of CRISPR technology. Dr. Doudna is an investigator at the Howard Hughes Medical Institute, senior investigator at Gladstone Institutes, and the president of the Innovative Genomics Institute. She cofounded and serves on the advisory panel of several companies that use CRISPR technology in unique ways. She is a member of the National Academy of Sciences, the National Academy of Medicine, the National Academy of Inventors, and the American Academy of Arts and Sciences. Dr. Doudna also is a Foreign Member of the Royal Society and has received numerous other honors including the Breakthrough Prize in Life Sciences, the Japan Prize, the Kavli Prize, the LUI Che Woo Welfare Betterment Prize, and the Wolf Prize in Medicine. Her work led TIME to recognize her as one of the 100 Most Influential People in 2015 and a runner-up for Person of the Year in 2016. She is the coauthor of A Crack in Creation, a personal account of her research and the societal and ethical implications of gene editing. She received her Ph.D. in biological chemistry and molecular pharmacology from Harvard University.

Thomas W. Ferkol, M.D., is the Alexis Hartmann Professor of Pediatrics and a professor of cell biology and physiology at Washington University School of Medicine in St. Louis, Missouri. An American Lung Association Edward Livingston Trudeau Scholar and recipient of the Cystic Fibrosis Foundation LeRoy Matthews Physician-Scientist Award, his research has largely focused on the development of cell and animal models to study cystic fibrosis and primary ciliary dyskinesia, defining genetic and molecular factors that contribute to chronic airway infection, inflammation, and epithelial injury with almost 30 years of continuous funding from the National Institutes of Health (NIH). Dr. Ferkol is co-lead of the NIH-supported Genetic Disorders of Mucociliary Clearance Consortium, an established, multicenter collaborative that is defining the genetics and pathophysiology of inherited, suppurative lung diseases. He has served on numerous national and international review groups and study sections and has written or co-authored nearly 200 original articles, scholarly reviews, and book chapters. Dr. Ferkol was the president of the American Thoracic Society 5 years ago, only the second pediatrician to serve in this capacity during the 115-year history of the organization. He received his M.D. from The Ohio State University College of Medicine.

Niclas and Jessica Flysjö from Sweden are the parents of three children: Hampus, 5, and twins Julia and Isabella, 3. Although their son, Hampus, seemed to be meeting his developmental milestones, the parents became concerned when he showed consistent trouble walking. Soon there were signs of developmental regression that made the parents seek out medical help, but doctors had no answers. Eventually, genetic testing revealed that not only Hampus but also his twin sisters have a rare neurodegenerative disease. GM1 gangliosidosis is an inherited lysosomal storage disorder that damages vital nerve cells in the brain and spinal cord. The disease is always fatal and, like for so many rare conditions, no treatment existed. However, Jessica and Niclas found hope in a gene therapy trial that was close to launching at NIH. Getting their three children treated became their priority. Although the coronavirus pandemic nearly made the children’s trial participation impossible, the family managed to beat the pandemic-related travel stop in spring 2020 by mere hours. They spent many months at The Children’s Inn at NIH for their children to prepare for, undergo, and recover from gene therapy—their only hope.

Alice Chen Grady, M.D., is a program officer in the Office of Rare Diseases Research (ORDR), where she works with the ORDR team to advance diagnosis and treatment for rare diseases through research. Chen Grady came to NCATS in November 2017 from the Food and Drug Administration (FDA), where she had been working since 2014 in the Office of Translational Sciences, which is part of the Center for Drug Evaluation and Research (CDER). Chen Grady worked on demographic subgroup data collections and analyses, among other knowledge management initiatives. She also helped to lead the development of regulatory science informatics and focused on ways to better capture, develop and effectively use CDER’s institutional knowledge to achieve FDA’s public health objectives. Chen Grady received her bachelor’s degree in biochemistry and molecular biology from the University of Maryland, Baltimore County, and her medical degree from University of Maryland School of Medicine.

Tracy Hart has been the chief executive officer of the Osteogenesis Imperfecta Foundation (OIF) since 2008. She is responsible for the overall management of the organization including volunteer development, program development, and fundraising.  The OIF is dedicated to improving the quality of life for people living with OI through research, advocacy, mutual support, and awareness. Tracy currently serves as the chair of the Coalition of Patient Advocacy Groups for the NIH’s Rare Diseases Clinical Research Network and is a past president of the National Health Council’s board of directors.  She also serves as a member of the Rare Bone Disease Alliance and a member of the Rare Bone Disease Patient Network. Prior to coming to the OIF, Tracy served as the Maryland State Director for the March of Dimes and Managing Director of Regional Operations for the American Kidney Fund. 

Reena Kartha, M.S., Ph.D., is a faculty in the Department of Experimental and Clinical Pharmacology at the University of Minnesota College of Pharmacy. Her research focuses on understanding the pathophysiological role of oxidative stress and inflammation and developing therapies that target these molecular pathways in rare inherited metabolic disorders. She also serves as the director of research programs for IndoUSrare, a U.S.-based nonprofit organization building collaborative bridges between the United States and the Indian subcontinent in order to accelerate therapies for all individuals affected by rare diseases. Dr. Kartha has mentored and supervised undergraduate, graduate, and pharmacy students conducting directed research in her lab. She was an NIH-sponsored Rare Disease Clinical Research Scholar and a Lysosomal Disease Network Fellow and was the recipient of the 2017 Clinical and Translational Sciences Institute Outstanding Junior Mentor of the Year award. She received her M.S. in Biotechnology from Tamil Nadu Agricultural University and her Ph.D. in  Molecular and Cellular Biology from the Indian Institute of Science. 

Laura M. Koehly, Ph.D., is a senior investigator at the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH), where she is the chief of the Social and Behavioral Research Branch and heads the Social Network Methods Section. Dr. Koehly’s training in psychology and statistics, with an expertise in social network analysis, uniquely positions her team to investigate the role of social context in health. The ongoing programmatic work in her lab aims to improve our understanding of the social contextual factors that influence health behaviors and psychological adjustment to inherited disease risk and diagnoses. Current research investigates the experiences of families caring for relatives diagnosed with rare disease, with the goal of developing effective tools and interventions that help families cope with their shared caregiving roles. She received her Ph.D. in quantitative psychology at the University of Illinois, Urbana-Champaign.

Lisa Kosak is a patient advocate who lives with alpha-1 antitrypsin deficiency (AAT). AAT is a rare genetic (inherited) condition that may result in serious lung disease in adults and/or liver disease at any age. She is lung affected and was born with two deficient genes but was only diagnosed with the condition in 2007 at the age of 43 at National Jewish Hospital in Denver, Colorado. Ms. Kosak was born and raised in northeast Minneapolis, moved to Colorado in 1996, and then moved to sea level to Vero Beach, Florida, in 2008. She is currently an AlphaNet coordinator who provides health management, education, and caring support to AlphaNet subscribers. She is a mom to two grown sons, one engaged to be married and one recently married, and is currently blessed with four gifted grand dogs.

Christopher U. Missling, M.S., Ph.D., M.B.A., is the president and chief executive officer of Anavex Life Sciences, where he leads a dedicated team and is determined to advance promising new rare disease therapeutics through the drug development process utilizing the person-focused approach of early collaborations with community-based advocacy groups and experts. He has more than 20 years of healthcare industry experience within the pharmaceutical and biotechnology industry. Prior to joining Anavex, Dr. Missling served at Curis, ImmunoGen, and Aventis (now Sanofi). He is dedicated to identifying therapeutic treatments and potential cures for rare neurodevelopmental and neurodegenerative diseases, like Rett syndrome, Fragile X syndrome, Angelman’s syndrome, infantile spasms, and more. He received his M.S. and Ph.D. in chemistry from the University of Munich and his M.B.A. from Northwestern University Kellogg School of Management.  

Jim Palma is the executive director of the TargetCancer Foundation, where he has overseen its growth from a small start-up to a nationally recognized foundation supporting comprehensive rare cancer research programs and patient support services. He is vice chairman of the board of directors of the National Organization for Rare Disorders (NORD) and is a founding co-chair of the NORD Rare Cancers Coalition. In addition, Mr. Palma is a member of the steering committee of the GI Cancers Alliance and the Global Cholangiocarcinoma Alliance. Prior to joining TargetCancer Foundation, he spent 11 years at Fidelity Investments in Boston, Massachusetts. He completed studies at the Institute for Nonprofit Management and Leadership at the Questrom School of Business at Boston University and received his B.A. from Loyola University Maryland. 

Anne R. Pariser, M.D., is the director of the Office of Rare Diseases Research (ORDR) at the National Institutes of Health’s (NIH’s) National Center for Advancing Translational Sciences (NCATS). ORDR is dedicated to advancing rare diseases research to benefit patients through rare diseases programs such as the Rare Diseases Clinical Research Network, Genetic and Rare Diseases (GARD) Information Center, and the NCATS Toolkit for Patient-Focused Therapy Development. Important translational science research initiatives for rare diseases at ORDR include establishing best practices and tools for good quality natural history studies, data standards and sharing initiatives, the development of diagnostic support tools, rare diseases therapeutics development, and translational and basic science research grants and collaborative programs. Dr. Pariser came to NCATS in 2017; before this, she worked for 16 years at the Food and Drug Administration (FDA) Center for Drug Evaluation and Research (CDER), where she founded the Rare Diseases Program in CDER’s Office of New Drugs in 2010. Dr. Pariser served as a medical officer and team leader for rare diseases drug and biologics product development, review, and regulation. She has 20 years of experience in rare diseases research, and her current research interests include “many diseases at a time” research approaches, such as platforms for gene therapies and other rare diseases product development, and informatics approaches for diagnosis. She received her M.D. from Georgetown University School of Medicine where she also completed her training in internal medicine.

Luke Rosen, M.S., and Sally Jackson founded KIF1A.ORG in 2016 following their daughter Susannah’s KIF1A diagnosis. In 2017, Luke left his career in film and television to jumpstart discovery of treatment for Susannah and children like her. Luke’s mission is to accelerate biotech innovation and forge efficient collaborations to rapidly discover treatment for KIF1A Associated Neurological Disorder.

Marc E. Rothenberg, M.D., Ph.D., is the director of the Division of Allergy and Immunology at Cincinnati Children's Hospital Medical Center (Cincinnati Children’s), a tenured professor of pediatrics at Cincinnati Children’s and the University of Cincinnati College of Medicine (UCCOM), the founder and director of the Cincinnati Center for Eosinophilic Disorders (CCED), the founder and director of the NIH-sponsored national Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR), and the incumbent of the Bunning Chair of Allergy and Immunology. His research is focused on molecular analysis of allergic inflammation, primarily on the pathogenesis of eosinophilic gastrointestinal disorders (EGIDs). His laboratory takes multidisciplinary approaches, including the development of preclinical murine models of allergic disease, genetics, genomics, molecular immunology, cellular biology, and biochemistry. Dr. Rothenberg’s awards include the 2007 E. Mead Johnson Award from the Society of Pediatric Research and an NIH MERIT Award in 2010, and he has been recognized as a Highly Cited (top 1%) Researcher by Clarivate Analytics. He is an elected member of the American Society for Clinical Investigation (ASCI), American Academy of Pediatrics (AAP), American Association for the Advancement of Science (AAAS), Society for Pediatric Radiology (SPR), and Hewlett-Woodmere Alumni Hall of Fame. His publications number over 400. He has served as an associate editor of the Journal of Allergy and Clinical Immunology for the past 17 years and is a consulting editor for the Journal of Clinical Investigation and co-section head of the Allergy and Hypersensitivity Section of Faculty 1000. He received his M.D. and Ph.D. from Harvard Medical School.

Robert A. (Sandy) Sandhaus, M.D., Ph.D., FCCP, is a professor of medicine and the founder and director of the Alpha-1 Antitrypsin Deficiency Program in the Division of Pulmonary, Critical Care, and Sleep Medicine at National Jewish Health in Denver, Colorado, and the clinical director of the Alpha-1 Foundation and the senior medical director and executive vice president of AlphaNet and AlphaNet Canada in Miami, Florida, and Toronto, Canada. His early research focused on the role of white blood cell proteases in the prevention and promotion of lung disease. This work led to a special clinical interest in patients with the genetic deficiency of alpha-1 antitrypsin. More recently he has been involved in evaluating the lung function of patients with osteogenesis imperfecta and currently serves as a member of the Osteogenesis Imperfecta Foundation’s Medical Advisory Council. In addition to his ongoing academic career, Dr. Sandhaus has worked in research and development in the biopharmaceutical industry. He ran clinical development programs at Cortech, NeXstar Pharmaceuticals, and Gilead Sciences. He has served on the boards of directors of the Alpha-1 Association, the Alpha-1 Foundation, AlphaNet, the Alpha-1 Project (TAP), the Association for the Accreditation of Human Research Protection Programs, Global Implementation Solutions, and the Osteogenesis Imperfecta Foundation. He received his B.A. in molecular biology from Haverford College and his M.D. and Ph.D. in experimental pathology/cell biology from Stony Brook University. He completed his residency in internal medicine at the Beth Israel Hospital in Boston and a pulmonary fellowship at the University of California San Francisco (UCSF) and is board certified in internal medicine, pulmonary disease, and critical care medicine. 

Abby Sandler, Ph.D., is the executive director of MyPART (My Pediatric and Adult Rare Tumor Network), a Cancer MoonshotSM-funded patient engagement initiative in the Pediatric Oncology Branch of the National Cancer Institute’s (NCI’s) Center for Cancer Research (CCR). Previously she served for many years as the chief of NCI’s Institute Review Office, overseeing scientific review of NCI’s large intramural research program; the executive secretary of the President’s Cancer Panel, a federal committee that advises the President on the National Cancer Program; and she also was instrumental in establishing the NCI Rare Tumor Initiative within the NCI CCR. Dr. Sandler also is the mother of a 4-year adolescent and young adult (AYA) cancer survivor. She received her bachelor’s degree in biology from Rensselaer Polytechnic Institute and her Ph.D. in biology from Johns Hopkins University.

Christen Sandoval, M.S., CHES, is a public health specialist in the Science Communication Branch in the Office of Communications and Public Liaison (OCPL) of the National Institutes of Health’s (NIH’s) Office of the Director (OD). She is the editor of the NIH Health Information Portal, co-lead of the NIH Spanish Health Information Portal, and manager of the NIH Public Information Officers (PIO) Network. She represents NIH to the Department of Health and Human Services (HHS) for health literacy and plain language efforts and co-leads the HHS Health Literacy Work Group. Prior to joining OD OCPL, she completed a detail with the National Institute of Child Health and Human Development’s (NICHD's) Safe to Sleep campaign under the direction of Dr. Shavon Artis while maintaining her full-time position in intramural clinical research at the NIH Center for Human Immunology, Autoimmunity, and Inflammation. She received her M.S. in public health in health education and health communication from the Johns Hopkins University Bloomberg School of Public Health, where she also completed a certificate program in maternal and child health. In addition, she is a Certified Health Education Specialist (CHES).

Elena Schwartz, Ph.D., is a Program Director at the Coordinating Center for Clinical Trials (CCCT) at the National Institutes of Health’s (NIH’s) National Cancer Institute (NCI). Previously, she was the Program Director at the Center to Reduce Cancer Health Disparities, NCI, NIH. Before joining the NIH intramural program, Dr. Schwartz was a director of research and development at the Ami-Go-Science biotech company, a Chief Scientific Officer at the Ariadne Diagnostics biotech company. She was a Principal Investigator on many projects focused on diagnosis and therapy of rare neuromuscular, neurodegenerative diseases, and rare cancers. Dr. Schwartz participated in two large international consortia, Bio-NMD and NeurOmics, focusing on biomarkers and drug targets for rare diseases. She received her Ph.D. in molecular biology and biochemistry from the Institute of Biochemistry, Novosibirsk, Russia, and completed her postdoctoral fellowship at the National Institute of Aging (NIA) and National Institute of Child Health and Human Development (NICHD) at NIH.

Rachel L. Sher, J.D., M.P.H., is the vice president of Policy and Regulatory Affairs at the National Organization for Rare Disorders (NORD) and is based in the Washington, DC, office. She has nearly 20 years of experience in federal health policy. She brings a breadth of expertise to leading NORD’s strategy for engaging policymakers at the federal and state levels to effect positive change for the rare disease community. Just prior to joining NORD, Rachel served as Deputy General Counsel at the Association for Accessible Medicines. Before that she served as a senior policy analyst in the Commissioner’s Office of Policy at the Food and Drug Administration (FDA) where she acted as the FDA lead in the 21st Century Cures Act legislative process. For 10 years before joining FDA, Ms. Sher served as Senior FDA Counsel for Ranking Member (Formerly Chairman) Henry A. Waxman, the leading author of the 1983 Orphan Drug Act, both on the Democratic Committee Staff for the Energy and Commerce Committee and in Representative Waxman’s personal office. She received her J.D. from the University of Florida Levin College of Law, her M.P.H. from The George Washington University School of Public Health, and her B.A. from Duke University. 

Eric J. Sherman, M.D., is an associate professor of medicine at Weill Cornell Medical College and a medical oncologist and member of the Head and Neck Cancer Solid Tumor Division at Memorial Sloan Kettering Cancer Center. He also is on the Executive Committee of the International Thyroid Oncology Group. His research over the past two decades has focused on squamous cell cancers of the head and neck and thyroid carcinomas. He is the overall principal investigator (PI) of RTOG0912, a randomized study in anaplastic thyroid cancer through RTOG/NRG, and A091302, a randomized study in Hurthle cell thyroid cancer through the Alliance for Clinical Trials in Oncology. He is the PI or co-PI on several clinical studies in head and neck and thyroid cancers. He also has been involved in several outcomes studies in oncology. He has a master’s degree in clinical epidemiology and received his M.D. from Columbia University.

Eric Sid, M.D., M.H.A., joined the National Center for Advancing Translational Sciences (NCATS) as a presidential management fellow in the Office of Rare Diseases Research (ORDR) in September 2017. He since has become a program officer in ORDR, where he is the lead for the Genetic and Rare Diseases (GARD) Information Center. GARD provides free, comprehensive, plain-language information on rare and genetic diseases to the public and is accessible through both GARD’s website and contact center. He is the lead for the Rare Diseases Registry (RaDaR) Program, which offers guidance for establishing and maintaining patient registries. He also oversees the NCATS Toolkit for Patient-Focused Therapy Development, which disseminates best practices for patient-partnered research through collaborations between patients and caregivers, community organizations, researchers, and National Institutes of Health/Food and Drug Administration (NIH/FDA) staff. He has worked to modernize the services and resources offered by these programs through participation in innovation initiatives from the Department of Health and Human Services (HHS), including the HHS Ignite Accelerator and HHS Data Science Co-Lab. Dr. Sid has served on scientific committees that address clinical data standards, informed consent for international researchers, and public health systems research. He received his M.D. and M.H.A. from the University of Washington’s School of Medicine and School of Public Health, respectively. In 2019, he completed his Presidential Management Fellowship (PMF), the premier leadership development program for the federal government, which included a rotation with the VA Center for the Study of Healthcare Innovation, Implementation and Policy of the VA Greater Los Angeles Healthcare System. 

Michelle Snyder, M.S., CGC, is a certified genetic counselor and leads the Rare Diseases Project Group for the Inter-Society Coordinating Committee for Practitioner Education in Genomics (ISCC-PEG). ISCC-PEG aims to improve genomic literacy of healthcare providers and enhance the effective practice of clinical genomic medicine by facilitating interactions among the key stakeholders in genomics education. Ms. Snyder is also the Operations Manager for the Genetic and Rare Diseases Information Center (GARD), a program of the National Center for Advancing Translational Sciences (NCATS). 

Josh Sommer is a survivor of a rare cancer called chordoma and the cofounder and executive director of the Chordoma Foundation, a nonprofit organization working to improve the lives of those affected by chordoma and lead the search for a cure. Under Josh’s leadership, since 2007 the Foundation has built a global movement of patients, doctors, scientists, and drug companies working together to bring about better treatments, better care, and better experiences for all affected by chordoma. By creating a vibrant research ecosystem and proactively investing in high-impact research, the Foundation has dramatically increased the speed and efficiency of the treatment-development process, resulting in a pipeline of seven clinical trials in the span of 10 years. For this work, Josh has been named by ABC News as a Person of the Year and twice was one of Forbes’ 30 under 30 transforming science and healthcare. 

Jacob Thompson (TEN20) has gone from diagnosis to destiny. His childhood dream was to be a professional athlete. He would tell you that sometimes our dreams for our lives need to die before we can live the true dreams and purpose that we were created for. He wouldn't only say this; he lives it every day. In his late teens, Jacob started having trouble performing athletically at a high level. Throughout college and after graduation he had not been feeling right physically for a long time and finally decided to see a doctor. After a series of tests he was diagnosed with a rare genetic condition known as Friedreich's Ataxia (FA). FA causes progressive damage to the cerebral cortex, causing difficulties in balance, coordination, and energy production and leading patients into a wheelchair and a shortened life expectancy. This diagnosis was an opportunity for Jacob to give up on his life and his faith. Instead, he chooses daily to make the most out of his situation. He uses his story and his art as ways to inspire others, helping them persevere through their challenges and find their purpose. He has spoken and shared his art for more than 10,000 people and counting and is now working on his first book. Aside from speaking, spoken word, and hip-hop, Jacob, better known as JT, runs a high school mentoring program in Minneapolis and coaches football and basketball. He has a Master's degree from Bethel Seminary; is married to his beautiful wife, Abigail Thompson; and together they are raising their son, Titus. 

Cynthia J. Tifft, M.D., Ph.D., is the deputy clinical director and directs the pediatric portion of the National Institutes of Health (NIH) Undiagnosed Diseases Program at the National Human Genome Research Institute (NHGRI). Her research interests include the natural history and pathogenesis of lysosomal storage disorders affecting the central nervous system, particularly Tay-Sachs and Sandhoff diseases, and GM1 gangliosidosis. In 2019 she and her collaborators, with support from Sio Gene Therapies, initiated a “first-in-human” phase 1/2 AAV9 intravenous gene therapy trial for patients with Type II GM1 gangliosidosis. Previously Dr. Tifft was on the faculty of Children’s National Medical Center and became chair of the Division of Genetics and Metabolism. She received her M.D. and Ph.D. in genetics from the University of Texas Health Science Center and Graduate School of Biomedical Sciences at Houston. She completed pediatric residency training at Johns Hopkins Hospital and a clinical genetics fellowship in the Inter-Institute Medical Genetics Training Program at the NIH.

Charles P. Venditti, M.D., Ph.D., is a senior investigator and the director of the Organic Acid Research Section at the National Human Genome Research Institute. As a clinical biochemical geneticist and laboratorian, he developed a translational research program to study the natural history and clinical phenotype(s) of the hereditary methylmalonic acidemias (MMA), cobalamin metabolic disorders, and propionic acidemia (PA). His research group is developing gene, cell, and small molecules therapeutics to treat MMA and PA. Dr Venditti has received a number of national and international awards, including a Presidential Early Career Award for Scientists and Engineers (PECASE), the U.S. Government’s highest honor for early career scientists, and is an elected member of the American Society of Clinical Investigation. He has authored and coauthored more than 130 peer-reviewed research articles, reviews, and textbook chapters. He received his B.S. from the Massachusetts Institute of Technology and his M.D. and Ph.D. from Penn State University. He completed internship and residency in pediatrics at Massachusetts General Hospital/Harvard Medical School and then a combined clinical and biochemical genetics fellowship at the Children’s Hospital of Philadelphia/University of Pennsylvania School of Medicine.

Kristen Wheeden, M.B.A., is the executive director of the American Porphyria Foundation (APF) located in Bethesda, Maryland. The APF was founded in 1983 and is the sole patient advocacy group for the porphyrias, a group of eight distinct rare diseases that are based in heme biosynthesis. Together with a team of expert physicians, the APF has recruited participants and implemented groundbreaking research. Ms. Wheeden is always exploring new ground for this patient community and working to educate physicians on the diagnosis, management and treatment of the porphyrias. Kristen is passionate about her work! She also is dedicated to her family and to changing the future for her youngest son who lives with erythropoietic protoporphyria. She received her M.B.A. from George Washington University and a Masters Certification in Public Health from the University of Maryland.

Jeanne Whiting and Marlene Portnoy co-founded The Desmoid Tumor Research Foundation (DTRF) in 2005 to facilitate and fund desmoid tumor research and support patients with access to information. About 900 cases of desmoid tumor are diagnosed annually. Jeanne’s personal journey with a retroperitoneal desmoid tumor involved resection, recurrence, 2 1/2 years of two different chemotherapies, and eventual loss of her right kidney. She is keenly aware of the needs of the desmoid community and is dedicated to accelerating the search for a cure. Prior to co-founding DTRF, Jeanne spent most of her career as an attorney and worked for various nonprofit organizations. She feels that getting a desmoid tumor was both a wake-up call and a calling to a new endeavor as it became clear to her as a patient that this was a field that needed jumpstarting into a new level of accelerated research to develop new effective treatments and provide patient support. DTRF recently celebrated its 15th anniversary of advocating for patients, funding research, supporting clinical trials, and collaborating with clinicians, researchers, and patients worldwide. 

Senator Roger F. Wicker (R-MS) has represented Mississippi in the United States Senate since December 2007. During his time in the Senate, Wicker has championed pro-growth policies to create jobs, limit federal overreach, protect life, and maintain a strong national defense. Wicker is the chairman of the Senate Committee on Commerce, Science, and Transportation for the 116th Congress. He previously served as the chairman of the Senate Commerce Subcommittee on Communications, Technology, Innovation, and the Internet. Wicker is the second-highest ranking Republican member of the Senate Armed Services Committee. His other committee assignments include the Environment and Public Works Committee and the Rules and Administration Committee. 

Wicker is the chairman of the U.S. Helsinki Commission and Vice President of the OSCE’s Parliamentary Assembly. Wicker also serves as a member of the U.S. Merchant Marine Academy Congressional Board of Visitors. In the 115th Congress, Wicker authored the “Securing the Homeland by Increasing our Power on the Seas (SHIPS) Act,” which made it the policy of the United States to achieve the Navy’s requirement for a 355-ship fleet. This legislation, which was designed to bolster national security and increase American shipbuilding capacity, was signed into law by President Trump as part of the National Defense Authorization Act.

Senator Wicker has been a strong advocate for economic development initiatives to help keep Mississippians competitive in a global marketplace. He has been honored by the National Association of Manufacturers (NAM) for his work on pro-growth, pro-manufacturing policies in Congress. Senator Wicker has actively supported cancer survivorship programs and efforts to fight heart disease with the American Heart Association, diabetes, childhood obesity, and Alzheimer's. He has been recognized as a "champion" of polio eradication for his work to wipe out polio worldwide. Senator Wicker is the co-founder of the Senate Malaria and Neglected Tropical Disease Caucus and has worked to eliminate these preventable diseases. He has been instrumental in bringing more research funding to Mississippi universities for a wide range of health-related projects to fight disease and improve quality of life. Most notably, Wicker authored the Muscular Dystrophy Community Assistance, Research, and Education (MD CARE) Act of 2001, which created NIH centers of excellence to coordinate and enhance muscular dystrophy research. The Wicker Project at Children's National Medical Center is a leader in muscular dystrophy research. 

Lennie Woods is co-founder of Sara’s Cure as well as mom to Sara and Jacqueline and wife to Denny. When Sara was diagnosed with ultrarare clear cell sarcoma (CCS) as a teen there was no treatment protocol and very few doctors had seen a case. With lots of support Lennie established the nonprofit Sara’s Cure with the mission to make CCS survivable through education and scientific research while ensuring all patients and caregivers impacted have a voice and platform to enact change and strive toward the cure. What she found was an amazing group of patients providing support and encouragement for a disease space that had no voice. Lennie has worked with the National Institutes of Health (NIH), Food and Drug Administration (FDA), and others as well as pharma to bring awareness to CCS. Connecting with these groups helped lead to several first ever CCS drug trials. She is most proud of being able to give patients a way to be included in the conversation with researchers and clinicians in hopes of a treatment and better outcomes. 

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