Speakers

Christopher P. Austin, M.D., has served as director of the National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health (NIH) since 2012. Prior to this role, he was NCATS’ scientific director, focusing on translating basic science discoveries into new treatments and technologies to improve the efficiency of therapeutic/diagnostic development. He founded several initiatives, including the NIH Chemical Genomics Center, the Therapeutics for Rare and Neglected Diseases Program, and the Toxicology in the 21st Century Program. He also is a member of National Academy of Medicine. Before joining NIH in 2002, Dr. Austin led genomic-based target discovery, pharmacogenomic, and neuropsychiatric drug-development programs at Merck. From 2016 to 2018, he served as chair of the International Rare Disease Research Consortium (IRDiRC). He received his A.B. from Princeton University and his M.D. from Harvard Medical School and completed training in internal medicine and neurology at Massachusetts General Hospital. 

Krishna “Balki” Balakrishnan, Ph.D., M.B.A., is a senior technology transfer manager in the Office of Strategic Alliances at the National Institutes of Health’s (NIH’s) National Center for Advancing Translational Sciences (NCATS). He works with scientific staff members to facilitate their collaborative efforts. Dr. Balakrishnan assists in all aspects of developing these strategic alliances, including helping to define the contours of the collaboration, delineating roles and responsibilities for the various parties, and troubleshooting any challenges that may occur during the collaborations. His earlier positions at NIH include marketing group leader in the NIH Office of Technology Transfer and senior technology development manager at the National Heart, Lung, and Blood Institute (NHLBI). Previously he was the executive director of the Foundation for Advanced Education in the Sciences, a nonprofit foundation affiliated with NIH, and the vice president of technology and business development and vice president of research and development at a division of Covance, formerly Berkeley Antibody Company. He is the co-inventor on two U.S. patents and has published and presented extensively on scientific subjects as well as technology transfer matters. He received his Ph.D. in biophysical chemistry from Stanford University and his M.B.A. from the University of California, Berkeley.

Philip John (P.J.) Brooks, Ph.D. is a program director in the Office of Rare Diseases Research (ORDR) at the National Institutes of Health’s (NIH’s) National Center for Advancing Translational Sciences (NCATS). Brooks represents NCATS on the Trans-NIH Microbiome Working Group and Gene Therapy Working Group. He is also the working group coordinator for the NIH Common Fund Program on Somatic Cell Genome Editing. Previously he was in the NCATS Division of Clinical Innovation, where he was the lead program director for the Clinical and Translational Science Awards (CTSA) Program Collaborative Innovation Awards, designed to fund projects that will result in novel and creative approaches to overcoming roadblocks in translational science. Before joining NCATS, Dr. Brooks was an investigator in the Intramural Program of the National Institute on Alcohol Abuse and Alcoholism. He developed an internationally recognized research program focused on two distinct areas: the molecular basis of alcohol-related cancer and rare neurologic diseases resulting from defective DNA repair, including xeroderma pigmentosum, Cockanye syndrome, and Fanconi anemia. He received his Ph.D. in neurobiology from the University of North Carolina at Chapel Hill and completed a postdoctoral fellowship at the Rockefeller University.

Chip Chambers, M.D., is the founder and president of the board of directors of the DADA2 Foundation. As a physician and educator with years of experience on the business side of healthcare, he is unusually well prepared to lead the DADA2 Foundation that forges productive and innovative partnerships between clinicians, researchers and patients. He is a compelling advocate for rare disease patients, a tireless networker and the co-author of multiple scientific papers on deficiency of adenosine deaminase 2 (DADA2). Dr. Chambers two children were diagnosed with the rare disease DADA2 in March 2014, just 1 month after the first articles describing the disease were published in the New England Journal of Medicine. Dr. Chambers is the former chief of endocrine surgery at Vanderbilt University Medical Center in Nashville, Tennessee, where he continues to hold his clinical faculty appointment. He received his M.D. from the University of Mississippi.

Lea Cunningham, M.D., is the medical director of the RUNX1 Program at the National Human Genome Research Institute (NHGRI), an associate research physician in the Immune Deficiency- Cellular Therapy Program (ID-CTP) at the National Cancer Institute (NCI), and the director of the Pediatric Bone Marrow Transplantation Fellowship Program. The primary aim of her pediatric hematology-oncology fellowship project was to identify small molecule inhibitors of RUNX1 interaction under the direction of Dr. Paul Liu at NHGRI and Dr. Wei Zheng at the National Center for Advancing Translational Sciences (NCATS). She also was privileged to help care for a small group of patients and families with germline RUNX1 mutations under a larger umbrella protocol at the NHGRI. To comprehensively study the germline RUNX1 deficiency syndrome, a dedicated natural history protocol for patients with RUNX1 mutations was opened at the National Institutes of Health (NIH) Clinical Center last year. The RUNX1 natural history study has now grown into a collaborative clinical and research effort comprising seven NIH institutes and the NIH Clinical Center. There also are robust collaborations with several extramural collaborators and the nonprofit patient advocacy group RUNX1 Research Program (RRP). This dynamic intra- and extramural research model may be successfully applied to many other diseases featured at the annual NIH Rare Diseases Day.

Nikita Curry is the supervisor of the Office of Patient Recruitment at the National Institutes of Health (NIH) Clinical Center. The Office of Patient Recruitment serves the NIH Intramural Research Program in identifying and enrolling patients and healthy volunteers. She is responsible for providing resources to patients, healthy volunteers, or referring physicians on how to uncover better ways to treat, prevent, diagnose, and understand human disease. Ms. Curry has more than 7 years of experience in the private sector as a healthcare professional. She is known for driving growth with clinical research, maximizing operational excellence, and delivering financial performance. Nikita is passionate about excellence at home, in her community, and in public service. She received her undergraduate degree in technical and professional studies in allied health from Towson University and her M.H.A in health care administration from the University of Maryland University College.

Lisa Deck is a founder and director of Sisters@Heart, a nonprofit organization that improves the lives of those affected by heart disease and stroke, and serves as an advocacy board member for the American Heart Association in Boston and Southern New England. She also serves as a Global Ambassador, sharing her personal experience and patient expertise internationally. She is a former Go Red for Women National Spokeswomen for the American Heart Association. Suffering her first three strokes 20 years ago, Lisa has been a patient activist and keynote speaker for the past two decades. Lisa lobbies at the local, state, and Federal level for health policy development. She is a widely known advocate who inspires others and raises awareness of heart disease, stroke, and Moyamoya disease. In 2015, Lisa was diagnosed with Moyamoya disease, a rare cerebrovascular disease, after an 18-year diagnostic odyssey. She underwent two brain bypass surgeries to restore blood flow to her brain. Since then, Lisa has become actively involved in rare disease advocacy, serving as a board member for the Moyamoya Foundation and a committee member of Rare New England. On behalf of Rare New England, Lisa produces and hosts a local cable show, The World of Rare Disease. She lives in North Attleboro, Massachusetts, with her husband and two children.

Stephanie Feinberg is the resident services operations manager at The Children’s Inn at NIH. She began her journey at The Children’s Inn at NIH after being diagnosed with her own rare disease. She felt a passion for supporting children, teens, young adults and caregivers going through treatment for rare diseases. Ms. Feinberg has served on both the programming team and resident services team of The Inn. Previously she was a volunteer coordinator at Make-A-Wish Mid-Atlantic and a volunteer intern at Make-A-Wish Philadelphia, Northern Delaware and Susquehanna Valley.

James K. Gilman, M.D., was selected as the first chief executive officer (CEO) of the National Institutes of Health (NIH) Clinical Center. He oversees day-to-day operations and management of the research hospital on NIH’s Bethesda campus, one of the largest such facilities in the world. He guides the overall performance of the Clinical Center, focusing particularly on setting a high bar for patient safety and quality of care, including the development of new hospital operations policies. Dr. Gilman served 35 years in the U.S. Army, culminating as major general of the U.S. Army Medical Research and Materiel Command at Fort Detrick, Maryland. During his career, he led Brooke Army Medical Center at Fort Sam Houston, Texas; Walter Reed Health Care System in Washington, DC; and Bassett Army Community Hospital at Fort Wainwright, Alaska. He also served as director of Health Policy and Services and was responsible for all aspects of professional activities and healthcare policy in the Office of the Surgeon General, U.S. Army Medical Command. Following his retirement from the U.S. Army in 2013 as a major general, Dr. Gilman served as executive director of Johns Hopkins Military & Veterans Institute in Baltimore. He received his B.S. in biological engineering from Rose-Hulman Institute of Technology and his M.D. from the Indiana University School of Medicine. He is board certified in both internal medicine and cardiovascular diseases and is a fellow of the American College of Cardiology and the American College of Physicians.

Matthew D. Hall, Ph.D., is a biology group leader in the Division of Pre-Clinical Innovation at the National Institutes of Health’s (NIH’s) National Center for Advancing Translational Sciences (NCATS). Hall leads a team of research biologists who develop and optimize both biochemical and cell-based assays for automated, small molecule, high-throughput screening. Prior to joining NCATS, he was awarded an American Australian Association Sir Keith Murdoch Fellowship and worked under Valeria Culotta, Ph.D., at Johns Hopkins Bloomberg School of Public Health, where he used yeast genetics and molecular biology to investigate the cellular regulation of transition metals such as manganese. Dr. Hall then moved to the National Cancer Institute (NCI) Laboratory of Cell Biology under Dr. Michael M. Gottesman, bringing together his chemical and genetic experience to work on the clinically challenging phenomenon of cancer multidrug resistance. He has published more than 70 peer-reviewed papers and is on the editorial board of Drugs of the Future. He received his undergraduate degree with first class honors from the University of Sydney, investigating methods for modifying and targeting matrix metalloproteinase inhibitors during an honors research year. He also received his Ph.D. from the University of Sydney under Trevor Hambley, Ph.D. His graduate research brought together cell biology and synchrotron spectroscopy for the first time to observe in real time the cellular distribution and metabolism of the platinums. His doctoral work included 6 months in the Nuffield Division of Clinical Laboratory Sciences at Oxford University, where he developed 3-D tumor models.

David Hysong is a patient and founder and chief executive officer of SHEPHERD Therapeutics and the SHEPHERD Foundation. He had just completed officer selection for Special Operations in the U.S. Military and was a graduate student at Harvard when he was diagnosed with adenoid cystic carcinoma (ACC), an ultra-rare, untreatable head and neck cancer. He was 27. David’s form of cancer, like so many, does not respond to chemotherapy and has no approved targeted therapies—a reality he refused to accept. Instead, he founded SHEPHERD for the millions of Americans battling rare cancer. Mr. Hysong is a Forbes 30 Under 30 honoree and former Spotlight Health Scholar at the Aspen Institute. He received his B.A. in economics, philosophy and French literature from Transylvania University, his M.A. in intellectual history from St. John’s College and his M.Div. in religion, ethics and politics from Harvard University. He is currently completing his Executive M.B.A. through the Owner/President Management Program at Harvard Business School.

Stephen F. Kingsmore, M.D., D.SC., is president and CEO of Rady Children’s Institute for Genomic Medicine (RCIGM) in San Diego, California, where he leads a multi-disciplinary team of scientists, physicians, and researchers who are pioneering the use of rapid whole genome sequencing (WGS) to diagnose and guide precision medical care for critically ill newborns. The mission of the RCIGM is identifying the genetic cause of rare diseases in acutely ill newborns and children through rapid and ultra-rapid WGS. An expert in genomic and systems medicine research, Dr. Kingsmore holds the world speed record for achieving the fastest molecular diagnosis using whole genome sequencing in 19.5 hours. Before coming to RCIGM, he was the founding director of the Center for Pediatric Genomic Medicine at Children’s Mercy Kansas City and held the Dee Lyons/Missouri Endowed Chair in Genomic Medicine at the University of Missouri-Kansas City School of Medicine. In his distinguished career, Dr. Kingsmore has also served as president and CEO of the National Center for Genome Resources, COO of Molecular Staging Inc., vice president of research at CuraGen Corporation, founder of GatorGen, and assistant professor at the University of Florida’s School of Medicine. He received the 2013 Scripps Genomic Medicine Award for pioneering discoveries in neonatal care and TIME magazine ranked his rapid genome diagnosis method one of the top 10 medical breakthroughs of 2012. He received his M.B., Ch.B., B.A.O., and D.Sc. from the Queen’s University of Belfast. He trained in clinical immunology in Northern Ireland and performed his residency in internal medicine and a fellowship at Duke University Medical Center. He is a fellow of the Royal College of Pathologists. 

Mary Kitlowski is a speaker and advocate for those with primary ciliary dyskinesia (PCD), lung diseases and rare diseases. She founded Running On Air to raise awareness and raise funds for lung and rare diseases. Running On Air does this by sharing patient stories, posting facts and research and hosting virtual races that raise funds for organizations like the PCD Foundation and the National Organization for Rare Disorders (NORD). Mary is a runner at heart and has the rare and progressive lung disease PCD. These days she walks. With her lung capacity at 34% she requires supplemental oxygen and is a lung transplant candidate. She completed her first marathon, the New York marathon, this past November 3 in 9 hours and 50 minutes. She carried her 6-pound portable oxygen concentrator (POC) and her husband, Ed, joined her carrying her extra POC batteries.

Michael R. Knowles, M.D., is a professor of medicine at The University of North Carolina at Chapel Hill. He has been actively involved in translational research of genetic disorders of the pulmonary conducting airways for more than 35 years. His research interests initially focused on cystic fibrosis (CF) and later extended to primary ciliary dyskinesia (PCD). His current research in PCD focuses on the development of diagnostic tests, including identification of PCD-genes; characterization of genotype/phenotype relations in PCD; and development of pharmaco- and molecular-based therapy directed toward genetic diseases of the airways. Dr. Knowles headed the Genetic Disorders of Mucociliary Clearance Consortium in the Rare Diseases Clinical Research Network (RDCRN) for 15 years. He received his M.D. from the University of North Carolina at Chapel Hill and completed his residency at Duke University and a fellowship at the University of North Carolina at Chapel Hill.

Teresa (Tesi) Kohlenberg, M.D., is an assistant professor of psychiatry at the University of Massachusetts Medical School and works in community psychiatry in a range of settings. Three years ago, her teenaged daughter was diagnosed with Phelan-McDermid Syndrome (PMS) after she developed complex neuropsychiatric illness on top of her long-standing intellectual disability. Since learning of her daughter’s rare genetic disorder, Dr. Kohlenberg has been active in research and in advocacy for families facing similar challenges. She is part of the PMS Neuropsychiatric Consultation Group (ECHO), which she helped to start; completed a large study of affected families; and published two papers this year on psychiatric illness and regression in teens and adults with PMS. She received her M.D. from Albert Einstein College of Medicine, is a board-certified pediatrician, and completed fellowships in both developmental pediatrics and child and adolescent psychiatry.

Marrah Lachowicz-Scroggins, Ph.D., is a program director in the Airway Biology and Disease Branch in the Division of Lung Diseases at the National Institutes of Health’s (NIH’s) National Heart, Lung, and Blood Institute (NHLBI). She is a project scientist for the Genetic Disease of Mucociliary Clearance Consortium, which is part of the Rare Diseases Clinical Research Network jointly funded by NHLBI and National Center for Advancing Translational Sciences (NCATS) Office of Rare Disease Research. She also manages grants in the Common Fund Somatic Cell Gene Editing Program for Innovative Technologies to Deliver Genome Editing Machinery to Disease-relevant Cells and Tissues and serves as an NIH working group member. Dr. Lachowicz-Scroggins’ program areas and research interests are respiratory medicine, pulmonology, asthma, asthma-chronic obstructive pulmonary disease (COPD) overlap, cystic fibrosis, ciliopathies, rare lung diseases, viral susceptibility, mucins/mucus, mucosal immunology and epithelial cell biology. She received her Ph.D. in comparative pathology from the University of California, Davis.

Sophie Lanzkron, M.D., is an associate professor of medicine and oncology in the Division of Hematology at the Johns Hopkins University School of Medicine and the director of the Sickle Cell Center for Adults at the Johns Hopkins Hospital. She is internationally recognized for her pioneering research on the optimal care and management of patients with sickle cell disease and serves on the American Society of Hematology’s Sickle Cell Guideline Panel. She is co-chair of the Clinical Trial Sub-committee for the National Institutes of Health’s (NIH’s) Cure Sickle Cell Initiative and chair of the American Society of Hematology’s Clinical Trial Network’s Patient Engagement Committee. Dr. Lanzkron’s research focus is on improving the quality of care provided to this historically underserved population and she is considered an expert in health services research in sickle cell disease. Her research is currently supported through grants from the Patient-Centered Outcomes Research Institute (PCORI), the NIH, and the Health Resources and Services Administration (HRSA). Previously she served on the NIH Expert Panel in the Management of Sickle Cell Disease. She received her M.D. from the Albert Einstein College of Medicine, where she was inducted into the AOA honor society, and completed her residency at the University of Maryland and her hematology fellowship at Johns Hopkins.   

Richard A. Moscicki, M.D., is the executive vice president for science and regulatory advocacy and the chief medical officer at Pharmaceutical Research and Manufacturers of America (PhRMA). Previously he was the deputy center director for science operations for the U.S. Food and Drug Administration’s (FDA’s) Center for Drug Evaluation and Research (CDER). While at FDA, Dr. Moscicki brought executive direction of center operations and leadership in overseeing the development, implementation, and direction of CDER’s programs. Other previous positions include chief medical officer at Genzyme Corporation, where he was responsible for worldwide global regulatory and pharmacovigilance matters as well as all aspects of clinical research and medical affairs for the company; senior vice president and head of clinical development at Sanofi-Genzyme; staff member at Massachusetts General Hospital (MGH); and faculty member at Harvard Medical School. He received his M.D. from Northwestern University Medical School. He is board certified in internal medicine, diagnostic and laboratory immunology, and allergy and immunology. He completed his residency in internal medicine, followed by a fellowship in clinical immunology and immunopathology at MGH. 

Neena Nizar, Ed.D., is founder and president of the Jansen’s Foundation. She is a rare disease advocate and was Nebraska’s Mother of the Year in 2018. She is a TEDx speaker, a blogger, and a passionate voice for the differently abled community. Dr. Nizar also is a rare disease patient and shares a diagnosis of Jansen’s metaphyseal chondrodysplasia, a disease that affects fewer than 30 people worldwide, with her two boys. She received her Ed.D. in educational leadership from Creighton University, Nebraska.

Amanda Ombrello, M.D., is an associate research physician at the National Institute of Health’s (NIH’s) National Human Genome Research Institute (NHGRI). Having aligned herself with Dr. Dan Kastner at the NIH, she has focused her research on the field of autoinflammation. Leading the Inflammatory Disease Section’s clinical team, she oversees the care of more than 2,000 patients with novel and established autoinflammatory diseases. Dr. Ombrello also has played a significant role in the discovery and characterization of 6 new autoinflammatory diseases as well as doggedly pursuing effective therapeutic options for her patients. She has spearheaded the organization of a multispecialty juggernaut that is fighting to decipher the complex and potentially devastating disease, deficiency of adenosine deaminase 2. She is becoming increasingly recognized as a leader in the field of autoinflammation and has been asked to present her work at national and international meetings. Before joining the NIH she subspecialized in both adult and pediatric rheumatologist training at Cardinal Glennon Children’s Medical Center and Saint Louis University. She received her M.D. from Saint Louis University.

Elizabeth Ottinger, Ph.D., is a senior program manager of the Therapeutics for Rare and Neglected Diseases (TRND) Program at the National Institutes of Health’s (NIH’s) National Center for Advancing Translational Sciences (NCATS). Over the past 10 years, she has led multiple collaborative projects involving public-private partnerships to advance molecules through preclinical and early clinical development for the treatment of rare and neglected diseases. She also has been actively involved in establishing partnerships with rare disease patient advocacy groups to facilitate the clinical development of therapeutics for rare diseases. Prior to joining TRND, Dr. Ottinger worked on the development of a broad range of antibacterial and antiviral vaccines in the vaccine department at Merck Research Laboratories. Earlier in her research career, she worked on developing biochemical and cell-based assays for the high-throughput screening of targets for spinal muscular atrophy (SMA) at the University of Pennsylvania and was an assistant chemistry professor at Kenyon and Swarthmore Colleges, focusing on teaching, research, and mentoring of undergraduate students. She received her Ph.D. in organic chemistry from the University of Minnesota and completed her postdoctoral work at the Joslin Diabetes Center of Harvard Medical School. 

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 accelerating 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, and rare diseases therapeutics development as well as translational and basic science research grants and collaborative programs. Prior to NCATS, Dr. Pariser worked for 16 years at the U.S. Food and Drug Administration (FDA) Center for Drug Evaluation and Research (CDER), where she founded the Rare Diseases Program in FDA CDER’s Office of New Drugs in 2010 and 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 disease product development and informatics approaches for diagnosis. She received her M.D. from Georgetown University School of Medicine.

Joni L. Rutter, Ph.D., is the deputy director of the National Center for Advancing Translational Sciences (NCATS). She plans, executes and assesses NCATS’s pre-clinical and clinical programs and serves to nurture robust interactions with NCATS programs. Her primary scientific objective is to integrate genetic principles to inform more deeply our understanding of how individual factors impact health and disease to get more treatments to more patients more quickly. Before joining NCATS, Dr. Rutter was the director of scientific programs at the National Institutes of Health’s (NIH’s) All of Us Research Program, where she led the scientific, programmatic and implementation efforts to build a national research cohort of one million or more U.S. participants to advance precision medicine. Before that, she led the Division of Neuroscience and Behavior at the National Institute on Drug Abuse (NIDA) to direct basic and clinical neuroscience. She received her Ph.D. in pharmacology and toxicology from Dartmouth Medical School and completed a fellowship at the National Cancer Institute (NCI). 

Elena Schwartz, Ph.D., is a program director at the Center to Reduce Cancer Health Disparities (CRCHD) at the National Institutes of Health’s (NIH’s) National Cancer Institute (NCI). Previously she was a director of research and development at the Ami-Go-Science biotech company, a chief scientific officer at the Ariadne Diagnostics biotech company, and a principal investigator on projects focused on diagnosis and therapy of rare neuromuscular, neurodegenerative diseases and rare cancers. Dr. Schwartz participated in two large interdisciplinary 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 a postdoctoral fellowship at the National Institute of Aging (NIA) and National Institute of Child Health and Human Development (NICHD) at NIH.

Eric W.K. Sid, M.D., M.H.A., is a program officer in the Office of Rare Diseases Research (ORDR) at the National Institutes of Health’s (NIH’s) National Center for Advancing Translational Sciences (NCATS). He is the lead for the Genetic and Rare Diseases (GARD) Information Center, which provides free, comprehensive, plain-language information on rare and genetic diseases to the public and is accessible through GARD’s website and contact center. He also is the lead for the Rare Diseases Registry (RaDaR) Program, which offers guidance for establishing and maintaining patient registries, and 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 NIH/U.S. Food and Drug Administration 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 the 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. He completed his Presidential Management Fellowship, 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.

Patroula Smpokou, M.D., FAAP, FACMG, is a lead medical officer/team leader in the Division of Gastroenterology and Inborn Errors Products (DGIEP) in the Office of New Drugs at the Food and Drug Administration’s (FDA’s) Center for Drug Evaluation and Research (CDER), where she is involved in the interdisciplinary review and evaluation of products intended for the treatment of rare, biochemical genetic diseases known as inborn errors of metabolism (IEM). Her professional interests and expertise focus on the complex scientific and regulatory aspects of drug development in rare genetic diseases including the IEM. She is board certified in general pediatrics and in clinical genetics and genomics. Prior to joining FDA, Dr. Smpokou practiced clinical genetics at Children’s National Hospital in Washington, DC, and held an academic appointment as assistant professor of pediatrics at the George Washington University School of Medicine and Health Sciences. She received her M.D. from the University of South Florida Honors College and completed her residency in pediatrics at Yale-New Haven Children’s Hospital and a fellowship in clinical genetics and genomics at Harvard Medical School.

Michael Stewart is the regional program services manager for the Osteogenesis Imperfecta Foundation (OIF). In this role, he is responsible for coordination of program content and event logistics for the OIF Regional Conference Program; support of outreach to promote the OIF mission in key communities of designated geographic regions in the United States; and correspondence with the OI community about opportunities to engage in educational programs, awareness activities, and research opportunities. Mr. Stewart was diagnosed with OI as a child and feels deeply connected to the mission of the OIF to “improve the quality of life for those living with osteogenesis imperfecta.” Before working at the OIF, he taught social studies at a public high school in the Bronx. 

Marshall L. Summar, M.D., is the director of the Rare Disease Institute, chief of the Division of Genetics and Metabolism, and the Margaret O’Malley Chair of Genetic Medicine at Children’s National Medical Center and a professor of pediatrics at George Washington University School of Medicine in Washington, DC. He also is the board chairman for the National Organization for Rare Disorders (NORD). At Children’s National he leads the Division of Genetics and Metabolism, currently the largest known clinical division seeing more than 8,000 patients a year with rare diseases. He developed and launched the world’s first Rare Disease Institute (RDI) at Children’s National to focus on developing the clinical care field of the more than 7,000 rare diseases currently recognized. The RDI is the first Clinical Center of Excellence designated by NORD and focuses on building best clinical practices and diagnostic pathways. Dr. Summar’s laboratory works on both devices and treatments for patients with genetic diseases and adapting knowledge from rare diseases to mainstream medicine. His work has resulted in new drugs in U.S. Food and Drug Administration (FDA) trials for patients with congenital heart disease. His laboratory is best known for its work in the rare diseases affecting nitrogen and ammonia metabolism. He has also organized and led a large number of international work groups to develop standards of care and treatment for rare diseases resulting in significant improvements in outcomes. He is very active in newborn screening issues, developing testing and follow-up systems. He received his M.D. from the University of Tennessee Center for Health Sciences and completed his pediatrics residency and genetics postdoctoral fellowship at Vanderbilt University Medical Center. 

Laura L. Tosi, M.D., is the founder and director of the Bone Health Program at Children’s National Medical Center (CNMC) and an associate professor of orthopaedics and pediatrics at George Washington University in Washington, DC. Her clinical practice focuses on the orthopedic care of children and young adults with physical disabilities and/or issues related to bone health/rare skeletal disease. She serves on the board of directors of the Osteogenesis Imperfecta Foundation (OIF) and the United States Bone and Joint Initiative. She is site principal investigator (PI) for the Brittle Bone Disease Consortium Longitudinal Study in Washington, DC, and has particularly supported the study’s patient-reported outcomes research. Dr. Tosi also is a co-lead for the OIF’s Patient-Centered Outcomes Research Institute (PCORI) grant, “Improving Patient-Centered Outcomes: Expanding Engagement of the Osteogenesis Imperfecta Community.” She is the faculty chair of the Rare Bone Disease TeleECHO Program, chairs the Medical Advisory Board of the “Own the Bone” Steering Committee of the American Orthopaedic Association, and serves on the Medical Advisory Committee of the OIF and American Bone Health. She was the PI of the OIF’s Adult Natural History Initiative. She is a graduate of Harvard Medical School and she received her orthopaedic training at the Columbia Presbyterian Hospital in New York and the Hospital for Sick Children in Toronto.

Noah Victoria, 22, of Lusby, Maryland, was diagnosed with a very rare metabolic disease called abetalipoproteinemia shortly after birth. She has been participating in National Heart, Lung, and Blood Institute (NHLBI) clinical studies for abetalipoproteinemia since she was 2 years old, helping inform its treatment. Abetalipoproteinemia makes it impossible for her body to absorb dietary fats, which, in turn, makes it hard for her to take in sufficient amounts of essential fat-soluble vitamins. This leaves patients like Noah prone to serious vision and neurological problems. But Noah also experiences a range of additional symptoms—debilitating fatigue, nausea, and pain as well as skeletal issues—that cannot be explained by her disease. These symptoms have made daily life increasingly difficult for Noah. In the hopes of helping her get additional diagnoses that may lead to effective treatments, Noah is participating in the National Human Genome Research Institute’s (NHGRI’s) Undiagnosed Diseases Program. Noah and her family visit the National Institutes of Health (NIH) for Noah’s medical appointments two to three times a year. Making their frequent trips to NIH easier is The Children’s Inn at NIH, a nonprofit hospitality house for pediatric and young adult NIH study participants and their families, where Noah and her family stay free of charge during her visits. In addition to free lodging in “a place like home,” The Children’s Inn provides Noah and her family with free meals and the ability to prepare special meals for Noah in The Inn’s kitchens, afternoon and evening activities, and the chance to meet other NIH patients. Watch Noah's story here.

Julia Vitarello is the founder and chief executive officer of Mila’s Miracle Foundation (MMF). In December 2016, she learned that her seemingly healthy 6-year-old daughter Mila had Batten disease, a devastating fatal genetic condition. In a race against time, she raised 3 million dollars in grass-roots efforts from more than 7,000 supporters in 60 countries, while at the same time being a mom and caregiver. In an unprecedented collaboration led by Ms. Vitarello and Dr. Timothy Yu from Boston Children’s Hospital, Mila became the first person in the world to receive a drug tailored just for one person, affectionately named Milasen. Driven by a sense of hope and obligation, Ms. Vitarello is on a mission to ensure that truly personal medicines become accessible to many more children with rare diseases who otherwise would have no chance. Through MMF, she has also initiated the work toward a novel gene therapy targeting the MFSD8/Batten CLN7 gene, hosts scientific meetings, funds basic science projects in the United States and Europe, and speaks at scientific meetings and conferences across the country.

Kurt R. Weiss, M.D., is an associate professor in the Division of Musculoskeletal Oncology in the Department of Orthopaedic Surgery at the University of Pittsburgh. He is a founding member of the Pittsburgh Cure Sarcoma patient advocacy group and the Pittsburgh Sarcoma Research Collaborative, a multidisciplinary team of clinician/investigators in the Pittsburgh area. He is a certified diplomate of the American Board of Orthopaedic Surgery and is a member of the American Academy of Orthopaedic Surgeons, Musculoskeletal Tumor Society, and Connective Tissue Oncology Society. Dr. Weiss has more than 50 peer-reviewed publications in the musculoskeletal oncology literature. He has been supported by the National Cancer Institute (NCI) Center to Reduce Cancer Health Disparities. He was diagnosed with metastatic osteosarcoma at the age of 15 and attributes his survival to participation in a Phase II clinical trial. He received his M.D. from Thomas Jefferson University Medical College. During medical school he participated in the Howard Hughes Medical Institute/NIH Research Scholars Program and did a year of research with Lee Helman, M.D., in the NCI Pediatric Oncology Branch. He completed his residency in orthopaedic surgery at the University of Pittsburgh and his fellowship in musculoskeletal oncology at the University of Toronto. 

Kristen Wheeden 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.

Timothy Yu, M.D., Ph.D., is an attending physician in the Division of Genetics and Genomics and an assistant professor of pediatrics at Harvard Medical School and a neurogeneticist and researcher at Boston Children’s Hospital, Harvard Medical School, and the Broad Institute. He was an early pioneer in molecular and bioinformatic methodology for human genome sequencing and its application to the genetics of human disease. Dr. Yu’s research group in the Division of Genetics and Genomics works at the intersection of genetics, informatics, and neurobiology to understand human neurodevelopment and advance genomic medicine. Current projects range from human population genetic analyses of autism, to genome sequencing for newborn screening and neonatal ICU care, to the development of individualized genomic medicines for rare pediatric disease. He received his M.D. and Ph.D. in neuroscience from the University of California, San Francisco.

U.S. Department of Health and Human Services NIH