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. 

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.

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.

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.

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.

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). 

Eric Wk 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.

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. 

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.

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