Research Collaborators

Alan Beggs

Alan H. Beggs, PhD

Director, The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children’s Hospital
Sir Edwin & Lady Manton Professor of Pediatrics, Harvard Medical School

Dr. Beggs is Director of the Manton Center for Orphan Disease Research at Boston Children’s Hospital and Sir Edwin & Lady Manton Professor of Pediatrics at Harvard Medical School. Following undergraduate studies at Cornell University, he obtained his PhD in Human Genetics at Johns Hopkins University, with subsequent postdoctoral training in medical and molecular genetics at Johns Hopkins and Boston Children’s hospitals. Throughout his career, he has used the toolset of human molecular genetics to study normal muscle biology and pathophysiology in a variety of neuromuscular diseases with a particular focus on the congenital myopathies. In this role, and as founding director of The Manton Center, he has led the discovery of numerous novel disease genes and has pioneered the development of gene replacement and other molecular therapies for neuromuscular disease. He serves on numerous grant review committees, is advisor to patient advocacy groups and foundations, and has sat on multiple scientific advisory boards and boards of directors for both nonprofit and commercial entities.


Richard Horgan

Richard Horgan is the Founder and President of Cure Rare Disease. He has a deep passion for reimagining how rare and ultra-rare diseases are treated. With a younger sibling impacted by a rare disease, Rich has a strong interest in accelerating promising treatments for rare diseases. He formed an interdisciplinary collaboration of world-class researchers and clinicians to pioneer the rapid development of customized therapies for rare, genetic diseases. Prior to making his foray into biotech, Rich had extensive experience working in new business development at Corning Incorporated where he led the successful launch of a new product line. He also launched a successful car washing business in New York. He holds a BS from Cornell University where he graduated summa cum laude and an MBA from Harvard Business School where he was awarded the Blavatnik Fellowship for Life Science Entrepreneurship. Rich was recognized by Business Insider as one of ‘30 leaders under 40 transforming healthcare in 2020’ and, most recently, was named on the 2021 Forbes 30 under 30 list.

Richard Horgan
Casie Genetti

Casie Genetti, MS, CGC

Senior Genetic Counselor, The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children’s Hospital

Casie Genetti is a genetic counselor and project manager specializing in the genetics of rare and undiagnosed disorders with a focus on neuromuscular conditions. She received her Master’s degree in Genetic Counseling from Boston University and has been with the Manton Center for Orphan Disease Research at Boston Children’s Hospital since 2015. Casie coordinates the recruitment and enrollment of families for the Beggs Lab Congenital Myopathy Research Program and is involved with the clinical studies that focus on identifying the genes and characterizing the symptoms associated with congenital myopathies.


Dr. Rodney Kellems

Dr. Kellems received his PhD from Princeton University. As a postdoctoral fellow at Stanford University Dr. Kellems and others employed emerging techniques in molecular genetics to discover dihydrofolate reductase (DHFR) gene amplification as a novel mechanism of methotrexate resistance in mammalian cells. Dr. Kellems accepted his initial faculty position at Baylor College of Medicine, where he launched a new research program to understand the immune deficiency that results from ADA deficiency, at that time a newly discovered genetic disorder in humans. His lab created a genetic model of ADA deficiency in mice, which were later used to show that gene replacement therapy could successfully treat ADA-deficiency. The clinical trials with ADA-deficient children that followed were among the first examples of successful human gene therapy.

While at Baylor, Dr. Kellems also developed an interest in adenylosuccinate synthetase, with special interest in the muscle isoform, ADSS1. His lab cloned the ADSS1 cDNA and determined the structure and expression of the ADSS1 gene in mice, showing high expression in skeletal and cardiac muscle. In 1997 Dr. Kellems was recruited to head the Department of Biochemistry and Molecular Biology at the University of Texas McGovern Medical School at Houston, where he continued his research on ADA-deficiency.

Throughout his professional career Dr. Kellems has maintained an active interest in purine metabolism, beginning with his postdoctoral research on DHFR and continuing with his independent research on ADA, ADSS1 and ADSS2. Additionally, he has lectured extensively on purine metabolism in medical biochemistry classes. Dr. Kellems has received more than 35 years of NIH funding and has co-authored over 160 papers, which have been cited over 12,000 times. He is a listed inventor on three US Patents. Dr. Kellems continues to be involved in a variety of research, educational, administrative and consulting activities.

Rodney Kellems
Yang Xia

Dr. Yang Xia, MD, PhD

Dr. Xia is the Director and Professor of the International Research Center for Medical Metabolomics at Xiangya Hospital of Central South University, one of the oldest and largest hospitals in China (founded in 1906). Dr. Xia received her MD in Medicine from Hunan Medical University (Currently Xiangya School of Medicine). After completing her PhD in Molecular Pathology from University of Texas Health Science Center Graduate School of Biomedical Sciences, she did her Postdoctoral Fellowship in Preclinical and Translation Studies at The University of Texas Health Science Center. She has worked as a Tenured professor at University of Texas Health Science Center until 2020.

During over 25 years of her career, Dr. Xia’s research interests are in identifying pathogenic biomarkers for early diagnoses and developing effective therapeutics for numerous diseases associated with hypoxic, metabolic impairment and tissue damage. Dr. Xia has led a highly interactive, collaborative and productive research team including basic and clinical research scientists for > 20 years. Their pioneering discoveries have been published in highly respected journals including Nature Medicine, Cell Metabolism, Circulation, Circulation Research, Journal of Clinical Investigation, Journal of Experimental Medicine, Nature Communications, Blood, and Hypertension. Over the years, Dr. Xia maintained an active interest in purine metabolism and metabolomics. She was a very early collaborator with Metabolon, the premier metabolomics company in the US, and co-authored a very influential paper in Nature Medicine that relied heavily on metabolomics analysis. Dr. Xia has conducted extensive research and co-authored many research papers on adenylosuccinate synthetase 1 (ADSS1) gene expression in the heart.

Dr. Xia has received numerous awards including Innovative Research Funds from AHA, Lyndon Baines Johnson Research Award from the AHA, Basic Cardiovascular Science Outstanding Early Career Development Award from the AHA, Finalist for the Young Investigator Award of the International Society for Heart Research. Dr. Xia has brought her expertise in multi-innovative techniques in preclinical and human translational research.



David Fischer

David Fischer is an Executive Science Director at Charles River Discovery. David joined Charles River through the acquisition of the Galapagos’ services division (BioFocus and Argenta) from Galapagos in 2014, and has taken a leadership role on a number of early-stage drug discovery programs in rare and orphan disease indications, including cystic fibrosis, Huntington’s Disease, ALS, Usher III Syndrome, DMD and KCNT1 epilepsy. He brings expertise in complex and primary cell-based assays, including iPSC and hESC stem cells models. David holds a degree in chemistry and a PhD in molecular genetics from Leiden University. During six years of postdoctoral fellowships, he focused on neurodegenerative diseases, particularly Alzheimer’s and Huntington’s disease. Dr. Fischer has published over 60 patent applications and peer-reviewed papers.

David Fischer
Plavi Jain

Plavi Mittal

Dr. Mittal is the Founder, and the former President and CEO of the Jain Foundation, for 13 years from (2005 -2017) focused on a cure for an orphan disease, called Dysferlinopathy. Under her leadership, the Jain Foundation funded $40M towards diagnostics, research, and clinical trials of this disease. The Jain Foundation operating model was emulated by many other rare disease foundations.

Plavi is currently a director on the board of Open Treatments, an organization that is building a platform to streamline therapies for all monogenic rare disorders. She is also a co-founder and CSO of a health discovery company with a platform based on artificial intelligence, natural language processing, graph analytics, and cognitive reasoning.

She earned a Ph.D. in Biology from Brandeis University and performed postdoctoral work in molecular oncology at Harvard Medical School.