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.

Founder and President of Cure Rare Disease

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.

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.

Associate Professor, College of Health and Biomedicine & Institute for Health and Sport, Victoria University; Inherited and Acquired Myopathies Program Leader, Australian Institute for Musculoskeletal Science

Dr. Rybalka is a Principal Research Fellow (Skeletal Muscle Biology) and Lecturer (Developmental Biology) at Victoria University and directs the Inherited and Acquired Myopathies Program at the VU-affiliated Australian Institute for Musculoskeletal Science in Melbourne, Australia. Her research group is focused on targeting mitochondrial and metabolic systems to treat myopathy, particularly in rare neuromuscular diseases and acquired myopathies. Her PhD research illuminated a mitochondrial Complex I deficiency in muscles from dystrophin-deficient mdx mice, and consequently mitochondria as druggable targets to treat Duchenne muscular dystrophy. This work instigated ongoing collaborations with the pharmaceutical industry and propelled new avenues for translational research involving orphan and repurposed metabolic pharmaceuticals for neuromuscular diseases with high unmet need. Her team has performed foundational preclinical work demonstrating the therapeutic application of purine nucleotide cycle metabolite, adenylosuccinic acid, to treat muscle adiposis and fibrosis.

Dr. Rybalka has an internationally recognised research track in neuromuscular disease. She is an active reviewer for many top tier journals and funding agencies, is a member of international neuromuscular disease consortium, TREAT-NMD as well as the extended TREAT-NMD Advisory Committee for Therapeutics (TACT), consults for several international pharmaceutical companies invested in rare neuromuscular disease drug development.

In 2020, Dr. Rybalka was made an honorary Senior Research Fellow with the Department of Medicine - Western Health at the University of Melbourne and in 2021, a Research Associate with the Clinical Neuromuscular Research Group at University Children's Hospital Basel, Switzerland. She has established academic and clinical collaborators in both Australia and abroad and strong ties with industry.

Professor of Biochemistry and Molecular Biology, The Pennsylvania State University

Dr. Wendy Hanna-Rose is a Professor of Biochemistry and Molecular Biology at The Pennsylvania State University. She is a geneticist and molecular biologist with a longstanding interest in metabolism and development.

Wendy received her Ph.D. in microbiology and molecular genetics from Harvard University studying structure function relationships of Krüppel, the first transcriptional repressor protein to be identified. She was awarded an American Cancer Society fellowship to expand her training as a postdoctoral fellow at the University of Colorado. There she worked with Min Han, Ph.D., of the Howard Hughes Medical Institute, to develop the use of the C. elegans reproductive system to understand genetic control of tissue morphogenesis. She identified a number of mutants with interesting morphogenesis defects, and has made novel contributions to our understanding of how biological tubes are formed. After she established her own lab at Penn State in 2001, she made the unexpected discovery that one of the mutants of interest from the morphogenesis screen was in a gene important in nucleotide metabolism, sparking a new research direction - probing how nucleotide metabolism intersects with development. Her lab is now primarily focused on inborn errors of purine metabolism and understanding how perturbations to purine metabolism lead to neuromuscular and neurobehavioral phenotypes. She has used the genetically tractable C. elegans system to establish productive whole-animal models to study both ADSS and ADSL deficiency. Her lab is working to elucidate the links between purine metabolic perturbations and neuromuscular and neurobehavioral outcomes.

Assistant Professor, Harvard Medical School; Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children’s Hospital

Dr. Jaymin Upadhyay is a translational medicine scientist with over 15 years of experiences in the neurosciences. In 2018, Dr. Upadhyay returned to academia after spending eight years in the pharmaceutical industry. Throughout his career, he has led, or co-led multitude of investigations aimed at (i) validating new drug targets, (ii) validating novel preclinical or clinical methodologies, and (iii) translating preclinical research findings into early phase, clinical trials. Across translational biomarker studies, Dr. Upadhyay has utilized his background in imaging physics and systems neuroscience and integrated this knowledge base with expertise in drug discovery and development. At Boston Children’s Hospital, he serves as the principal investigator for clinical studies evaluating various neurological and psychiatric conditions.

Associate Professor, Departments of Rehabilitation Medicine, Bioengineering and Physiology & Biophysics; Investigator, ISCRM, University of Washington

Dr. David Mack is an Associate Professor in the Departments of Rehabilitation Medicine, Bioengineering and Physiology & Biophysics, as well as an investigator in the Institute for Stem Cell and Regenerative Medicine (ISCRM) at the University of Washington. David has a longstanding interest in how stem cells differentiate into the roughly 200 specialized cell types during embryonic development by executing their intrinsic genetic program while integrating cues from their surrounding microenvironment. His expertise is rooted at the intersection of genetics, embryology, cancer biology, biomaterials and regenerative medicine.

David received a Ph.D. in molecular genetics from the Indiana University School of Medicine studying the chromosomal translocation that causes one form of chronic myelogenous leukemia. Then completed a postdoctoral fellowship at the National Cancer Institute in Bethesda, MD where he investigated the role of stem cells in mammary gland development and how dysregulation leads to breast cancer. David’s career took a new direction when he switched from cancer research to the field of regenerative medicine by accepting a senior postdoc/junior faculty position at the Wake Forest Institute for Regenerative Medicine in Winston-Salem, NC.

In late 2012, David established his own laboratory at UW Medicine/ISCRM with the goals of expanding our understanding of fundamental muscle and neural biology, to identify the molecular drivers of pathology in various neuromuscular diseases (NMDs) and to develop therapeutic interventions that fix the root cause of the disease. The lab is focused on two primary areas: 1) Creation and testing of AAV-mediated gene transfer and CRISPR gene-editing strategies in small and large animal models and 2) Generation of induced pluripotent stem cell-based ‘disease-in-a-dish’ models starting from patient-derived and CRISPR-edited stem cells. David’s lab has pioneered methods to differentiate stem cells into cardiac and skeletal muscle as well as motor neurons to recreate NMDs and to build 3D tissues for disease modeling and drug discovery.

Research Assistant Professor, Department of Physiology and Biophysics at The University of Washington

Dr. Alec Smith is a Research Assistant Professor in the Department of Physiology and Biophysics at The University of Washington. Dr. Smith earned his Ph.D. in Tissue Engineering from University College, London (UK) in 2012 before moving to the United States to pursue a career in biomedical research. His expertise includes electrophysiology, molecular biology, and tissue engineering, with a particular focus on muscle and neuronal tissues. His work has involved the development of novel 2D and 3D culture systems for assessing nerve and muscle performance, and the analysis of physiological interactions between multiple cell types in vitro. By integrating human tissue engineering and cell culture with advanced methods for assaying electrophysiological and contractile function, he aims to develop novel platforms with which to improve the predictive capacity of current preclinical toxicity screening and disease modeling technologies.

To date, Dr. Smith has authored or co-authored more than 50 peer-reviewed journal articles and referenced conference proceedings, as well as 5 book chapters, and his papers have been cited over 2,500 times. In addition, he has filed 3 patents (issued or pending) based on his research. Over the course of his career so far, Dr. Smith has been the recipient of a number of awards, including The UK Medical Research Council Doctoral Training Award (2007), The Jaconette L. Tietze Young Scientist Award (2017), The University of Washington’s Institute for Translational Health Science KL2 Career Development Award (2017), and the Weill Neurohub Investigator Award (2023).

Lecturer In Medicinal Chemistry, School Of Chemistry, Cardiff University

Dr Fabrizio Pertusati Is a lecturer in Medicinal chemistry at Cardiff University. Dr. Pertusati holds a M.Sc. in physical organic chemistry (synthesis and characterisation of fluorinated Gemini surfactants) and a PhD in asymmetric organic synthesis (atropisomeric biquinazolinones) from Cardiff university. He received postdoctoral training in solid-phase organic synthesis at Emory University and in organofluorine and organoboron chemistry in the group of Nobel laureate Professor George Olah. From 2011 until 2016 he has been trained as a medicinal chemist in the laboratory of Prof. Chris McGuigan on various drug discovery projects (phosphoramidate prodrugs as antiviral and anticancer agents, fluorinated androgen-receptors antagonist for prostate cancer treatment, and design/synthesis of compounds acting on the Central Nervous System. In 2017 he was promoted to research fellow and in 2018 received a two years-fixed term lectureship sponsored by Nucana Plc. From January 2020 he became a permanent lecturer in medicinal chemistry at the Cardiff School of Pharmacy and pharmaceutical Sciences.

Dr. Pertusati laboratory has extensive expertise in the synthesis of a wide variety of small molecules with focus on phosphate prodrugs and fluorinated molecules. Current research interests are in the drug discovery of small molecules for the treatment of rare diseases. Main research topics are congenital disorder of glycosylation (GNE myopathy, PMM2), cystinosis, Nieman-Pick and recently ADSSL1.

To date, Dr. Pertusati has authored and co-authored more that 46 peer-reviewed papers, 2 books chapters, and he is a named inventor in 8 patents (issued and pending) in the area of small molecules therapeutics. He has served as member of the Scientific Advisor Board of Ichorion Therapeutics.

Director and Professor, International Research Center for Medical Metabolomics, Xiangya Hospital of Central South University, China

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 multi-innovative techniques in preclinical and human translational research.

Professor and Chairman, The University of Texas Health Science Center at Houston

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.

Neuromuscular Specialist, UCLA Health; Professor of Neurology and Pediatrics at the University of California, Los Angeles

Dr. Perry Shieh, MD is a Neurology Specialist in Los Angeles, CA and has over 23 years of experience in the medical field. He graduated from Johns Hopkins University School Of Medicine in 2000. He is affiliated with Ronald Reagan UCLA Medical Center and specializes in Neurology and Physical Medicine & Rehabilitation. Dr. Shieh has a research focus on neuromuscular diseases, specifically spinal muscular atrophy, limb-girdle muscular dystrophy, and the muscular dystrophies as a whole. He has led various neuromuscular disease related clinical trials at UCLA.

Neuromuscular Specialist, Clinical associate professor, Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Korea

Dr. Park is a clinical associate professor in the Department of Neurology at Gangnam Severance Hospital, Yonsei University College of Medicine in Korea. His primary focus is on the diagnosis and treatment of neuromuscular diseases. To date, he has authored more than 30 peer-reviewed journal articles and three book chapters. Dr. Park has conducted extensive research on the clinical and genetic spectra of a large Korean cohort of genetic neuromuscular disorders, including dystrophinopathy, facioscapulohumeral muscular dystrophy, and dysferlinopathy. Furthermore, he is actively involved in research on autoantibodies and treatment responses in patients with idiopathic inflammatory myositis. Notably, Dr. Park was the first to identify the ADSS1 (aka ADSSL1) gene as the causative gene of genetic myopathy.

Chief Technology Officer (Early Discovery), Charles River Laboratories

David Fischer is the Chief Technology Officer (Early Discovery) at Charles River Laboratories. 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.

Founder, and the former President and CEO, Jain Foundation

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.

President and Chair, Cure ADSSL1

Priyanka Kakkar, the Founder of Cure ADSSL1, embarked on a transformative journey when her children were diagnosed with an ultra-rare disease ADSSL1 Myopathy. Despite lacking formal medical education, Priyanka channels her passion, problem-solving skills, and managerial expertise to drive collaborative efforts with researchers, the patient community, and various rare disease advocacy groups. Within a brief period, she not only forged close partnerships with researchers and clinicians but also cultivated a tightly knit global community of patients affected by this ultra-rare disease.

Faced with a dearth of patient support groups and a lack of awareness in the research and clinical spheres, Priyanka's motivation to establish the organization was to create a supportive network and propel research towards therapeutic advancements. In a span of two years, Cure ADSSL1 significantly raised awareness in the research community and fostered collaborations with seven prominent institutes worldwide. Priyanka's purpose in life is dedicated to developing treatments for ADSSL1 Myopathy, steering the organization's commitment to building relationships, facilitating knowledge exchange, and actively participating in research discussions to overcome obstacles in the pursuit of a cure.

Priyanka is currently a Product Manager at Discover Financial Services. She manages Mobile & Digital Products for Discover Global Network. Before joining Discover in 2015, Priyanka worked in various Technology and Digital roles in Financial Services, Travel, and Telecom industries. She holds a B.E. in Computer Science from India.

Treasurer and Director, Cure ADSSL1

Sanjeev brings a great depth and breadth of experience to the Board of Cure ADSSL1 as he has been guiding and actively contributing to the operations of various non-profit organizations.

As a partner at Satwic, Sanjeev is responsible for strategy, governance, corporate development, innovation, customer relations, account management, talent acquisition, and communications. Sanjeev also plays the role of Sales and Account Manager with both Public Sector and Commercial clients in Los Angeles. A persuasive and passionate communicator with 25 years of consultative sales, training, and mentoring experience, including data management, analytics, RPA, ERP, and custom solutions. He has worked at key Government accounts and projects including the County of Los Angeles, City of Los Angeles, Los Angeles World Airports, Los Angeles Unified School District, Port of Los Angeles, Metropolitan Water District, Southern California Association of Governments, Department of Justice, Fi$Cal, IRS & OSHA. Currently engaged with many Fortune 500 clients in Southern California.

Sanjeev holds a Bachelor’s and Master’s degree in Engineering in Computer Science. Sanjeev is a Co-Chair for DataCon LA (dataconla.org) for over 6 years. Sanjeev is also an active board member of a nonprofit, Data4Good, which works to harness the power of data to make more informed decisions for our society in Los Angeles (d4g.community).

Secretary and Director, Cure ADSSL1

Cure ADSSL1 is honored to have Chandra as a Director on its Board. She deeply believes in the promise of the organization's mission to accelerate the development of treatment options for children and adults impacted with this rare disease.

Chandra is a Senior Director at Visa in San Francisco, leading strategic initiatives. Prior to joining Visa in 2021, Chandra worked for Charles Schwab in Chicago for fifteen years where she led the Trading Experience Technology team and was responsible for program management, strategy and operations for multiple trading platforms. Before joining the Board of Cure ADSSL1, Chandra volunteered at Be My Eyes and Innovations for Learning.

Chandra has Bachelor’s degree in Business from India and MBA from City University, Seattle.