Dr. Gerry Cox founded Gerald Cox Rare Care Consulting, LLC in 2018 to assist small biotechnology companies develop drugs for rare genetic diseases. He is a 20-year veteran of the biotechnology industry and a practicing clinical geneticist for over 25 years. Dr. Cox has consulted in a number of disease areas, including inborn errors of metabolism, muscular dystrophy, neurological disorders, immunodeficiencies, and complement-mediated diseases, using a number of therapeutic approaches, ranging from small molecules to biologics and genome editing. Dr. Cox often serves in a Chief Medical Officer role at these companies and provides strategic advice on disease targets, clinical development, and regulatory interactions. In September 2020, one of his clients, CANbridge Pharmaceuticals, a China-based rare disease company, received regulatory approval in China for Hunterase (idursulfase beta), an enzyme replacement therapy for Mucopolysaccharidosis type II (Hunter syndrome).

Dr. Cox began his industry career in 2000 at Genzyme, where he rose to Vice President of Clinical Development for Rare Diseases. During his 16 years there, he led the clinical development programs for several lysosomal storage disorders that resulted in the approvals of Aldurazyme® (laronidase) for Mucopolysaccharidosis type I in 2003 (worldwide), Elaprase® (idursulfase) for Mucopolysaccharidosis type II in 2007 (Japan and Asia-Pacific), Cerdelga® (eliglustat) for Gaucher disease type 1 in 2014 (worldwide), and Cerezyme® (imiglucerase) label expansion for Gaucher disease type 3 in 2016 (China).

From 2016-2018, Dr. Cox was Chief Medical Officer at Editas Medicine, where he oversaw clinical development, regulatory affairs, and scientific communications. He was the medical lead on the first US IND for an in vivo delivered CRISPR-based medicine, EDIT-101, to treat Leber congenital amaurosis type 10, the most common cause of genetic blindness in children.

Dr. Cox is a board-certified geneticist (clinical, biochemical, and molecular) who continues to see patients part-time at Boston Children’s Hospital, where he was previously on the full-time staff and completed his pediatrics and genetics training. He is an Instructor in Pediatrics at Harvard Medical School. Dr. Cox received his MD, PhD from the University of California at San Diego in 1989, and a BA in biology magna cum laude from Harvard College in 1980. He has over 80 peer-reviewed publications.

In 2019, Gerry joined the board of the National Tay-Sachs and Allied Diseases Association, where he leads their strategic research initiative. He was a founding member of both the Pediatric Cardiomyopathy Registry (PCMR) and the Barth Syndrome Foundation (BSF), and in 2020, he joined the BSF gene therapy advisory board.

A Board-certified medical geneticist, Dr. Skotko is the Emma Campbell Endowed Chair on Down Syndrome at Massachusetts General Hospital. As the Director of the hospital’s Down Syndrome Program, he has dedicated his professional energies toward children with cognitive and development disabilities. He co-authored the national award-winning books, Common Threads: Celebrating Life with Down Syndrome and Fasten Your Seatbelt: A Crash Course on Down Syndrome for Brothers and Sisters. He is a graduate of Duke University, Harvard Medical School, and Harvard Kennedy School, and he is currently an Associate Professor at Harvard Medical School. Dr. Skotko is a leader on clinical and translational research about Down syndrome. He has been featured in The Wall Street Journal, The New York Times, The Washington Post, The L.A. Times, NPR’s “On Point,” and ABC’s “Good Morning America.” Dr. Skotko has a sister with Down syndrome and serves on the Honorary Board of Directors for the Massachusetts Down Syndrome Congress.

Dr. Kritzer is an attending in the Division of Genetics and Genomics at Boston Children’s Hospital. She graduated from the Albert Einstein College of Medicine in Bronx, NY. She did her Pediatrics residency at The Floating Hospital for Children at Tufts Medical Center in Boston, MA and then completed fellowships in Clinical Genetics and Medical Biochemical Genetics at Boston Children’s Hospital. Her clinical work is focused on the care of children and adults with rare metabolic disorders. She serves as physician lead for Quality Improvement in the Division of Genetics. As QI lead, she creates and implements patient care initiatives designed to improve patient safety and patient and family experience. Her work is dedicated to addressing the psychosocial needs of patients with rare diseases with a focus on improving quality of life. She serves as a Principal Investigator for several lysosomal storage disease registries, as co-director of the BoLD lysosomal storage disease program at Boston Children’s and as one of the main physicians for the PAL clinics here.

My name is Alex Holtz and I am a physician-scientist geneticist and developmental biologist. I performed by undergraduate work at Cornell University where I received a B.A. in biological sciences in 2008. After graduating, I performed a 1-year research fellowship at the National Institutes of Health with Dr. Heiner Westphal. I then joined the Medical Scientist Training Program at the University of Michigan and was awarded an M.D. and Ph.D. in 2017. My graduate thesis with Dr. Benjamin Allen was focused on unraveling the molecular mechanisms of Hedgehog signal transduction during vertebrate embryogenesis. After graduation, I matched to the combined residency program in Pediatrics and Medical Genetics at Boston Children’s Hospital and Harvard Medical School and recently graduated in 2022. This training included a 1- year post-doctoral fellowship with Dr. Benjamin Raby where we discovered a new genetic condition associated with the MYH10 gene that is associated with a spectrum of neurodevelopmental disorders and congenital malformations.

I am now an attending physician in the Genetics and Genomics division at Boston Children’s Hospital where I see children and families with rare diseases in the outpatient and inpatient settings. I am also a post-doctoral researcher with Dr. Darrell Kotton at the Center for Regenerative Medicine at Boston University where I am working to develop cellular therapies for genetic lung diseases using induced pluripotent stem cells.

Following his graduation from Harvard Medical School, Dr. Weinstein did a residency, chief residency, and fellowship in pediatric endocrinology at Boston Children’s Hospital. He subsequently obtained a Masters in Clinical Investigation from Harvard and MIT, and became Director of the Glycogen Storage Disease Program at Boston Childrens. In 2005, Dr. Weinstein moved to the University of Florida where he directed the GSD Program and became a tenured professor. He moved to the University of Connecticut in 2017 where his team launched the world’s first gene therapy trial for glycogen storage disease. In 2020, he left the academic world to serve as the medical lead for the GM1 gangliosidosis and metachromatic leukodystrophy gene therapy trials at Passage Bio. He now serves as a consultant for rare disease clinical trials, and is the acting Chief Medical Officer for Grace Science, LLC. In 1989, he was named as one of the inaugural Goldwater Scholars. He is a former Jan Albrecht Award winner from the American Association for the Study of Liver Diseases, and he was the George Sacher Award winner from the Gerontological Society of America. In 2013, Dr. Weinstein was knighted in Poland and honored with the Order of the Smile international humanitarian award.

Dr. Hoffman is Associate Professor of Pediatrics at the BU School of Medicine. She is Chief of Medical Genetics in the Department of Pediatrics at Boston Medical Center. She is also Medical Director of the BU Master’s Program in Genetic Counseling and teaches and mentors genetic counseling students. She received her medical degree at Albert Einstein College of Medicine in the Bronx and then completed a Pediatric residency at Yale Children’s Hospital in New Haven. Dr. Hoffman’s Medical Genetics training was completed at Children’s Hospital of Philadelphia. Dr. Hoffman practices as a general medical geneticist and provides counseling and diagnosis regarding prenatal care, neonates, children and adults with personal and family history of genetic conditions. Dr. Hoffman works with the BU Lab to optimize genetic testing throughout BUMC. She also works with the Framingham Heart Study regarding the disclosure of secondary findings. She is Chair of the BUMG Work Harmony Committee and Vice-Chair of the ACMG Program Committee.

Dr. Kritzer is an attending in the Division of Genetics and Genomics at Boston Children’s Hospital. She graduated from the Albert Einstein College of Medicine in Bronx, NY. She did her Pediatrics residency at The Floating Hospital for Children at Tufts Medical Center in Boston, MA and then completed fellowships in Clinical Genetics and Medical Biochemical Genetics at Boston Children’s Hospital. Her clinical work is focused on the care of children and adults with rare metabolic disorders. She serves as physician lead for Quality Improvement in the Division of Genetics. As QI lead, she creates and implements patient care initiatives designed to improve patient safety and patient and family experience. Her work is dedicated to addressing the psychosocial needs of patients with rare diseases with a focus on improving quality of life. She serves as a Principal Investigator for several lysosomal storage disease registries, as co-director of the BoLD lysosomal storage disease program at Boston Children’s and as one of the main physicians for the PAL clinics here.

Dr. Omorodion received her doctorate of medicine from the George Washington University School of Medicine and Health Sciences in Washington, DC. Following this, she completed combined pediatrics residency training and clinical genetics fellowship training through the Boston Combined Residency Program and the Harvard Medical School Genetics Training Program, respectively. She is currently an attending physician at Boston Children's Hospital in the Division of Genetics and Genomics where she sees a wide spectrum of patients with genetic conditions. She is also an Instructor in Pediatrics at Harvard Medical School. Her primary research interest is in the ethical, legal, and social implications of rare disease treatment, specifically focusing on health disparities and inequities in clinical genetics.

Dr. Stephanie Sacharow is a medical biochemical geneticist at Boston Children’s Hospital. Dr. Sacharow graduated from Vanderbilt University and then the University of Miami Miller School of Medicine. Dr. Sacharow is board certified in Pediatrics, Medical Genetics and Medical Biochemical Genetics, and has been practicing over 15 years. Dr. Sacharow was recruited to Boston Children’s Hospital in 2015, and is a member of the Harvard Medical School faculty. Dr. Sacharow assists in diagnosis, management, and counseling for children and adults with a wide variety of inherited conditions. As an experienced dysmorphologist and medical biochemical geneticist, she sees patients with developmental disabilities, congenital anomalies, genetic syndromes, and metabolic disease. She was involved with the implementation and execution of expanded newborn screening for metabolic disease in South Florida. Dr. Sacharow is currently the medical director of the PAL clinic at Boston Children’s Hospital and the director of the Dr. Harvey Levy Program for Phenylketonuria and Related Conditions. Dr. Sacharow is also a provider for the BoLD Lysosomal Storage Disease Program. Dr. Sacharow is Associate Program Director for the Medical Biochemical Genetics training program and faculty advisor for the Genetics Student Interest Group at Harvard Medical School. She is currently involved in many research studies with a focus on Phenylketonuria.

Dr. Monkol received an undergraduate degree in Engineering (Computer Engineering) in 2000 at the University of New South Wales (UNSW) and then worked for IBM for 3.5 years. He returned to UNSW and completed undergraduate degrees in Science (Physiology) and Engineering (Bioinformatics) and received the University Medal in 2007. He completed his PhD (Medicine) at the University of Sydney in 2012 with the thesis topic: Functional differences between alpha-actinin-2 and alpha-actinin-3. Monkol did his post-doctoral training in Daniel MacArthur’s lab based at Massachusetts General Hospital, Harvard Medical School and the Broad Institute.

Dr. Gerry Cox founded Gerald Cox Rare Care Consulting, LLC in 2018 to assist small biotechnology companies develop drugs for rare genetic diseases. He is a 20-year veteran of the biotechnology industry and a practicing clinical geneticist for over 25 years. Dr. Cox has consulted in a number of disease areas, including inborn errors of metabolism, muscular dystrophy, neurological disorders, immunodeficiencies, and complement-mediated diseases, using a number of therapeutic approaches, ranging from small molecules to biologics and genome editing. Dr. Cox often serves in a Chief Medical Officer role at these companies and provides strategic advice on disease targets, clinical development, and regulatory interactions. In September 2020, one of his clients, CANbridge Pharmaceuticals, a China-based rare disease company, received regulatory approval in China for Hunterase (idursulfase beta), an enzyme replacement therapy for Mucopolysaccharidosis type II (Hunter syndrome).

Dr. Cox began his industry career in 2000 at Genzyme, where he rose to Vice President of Clinical Development for Rare Diseases. During his 16 years there, he led the clinical development programs for several lysosomal storage disorders that resulted in the approvals of Aldurazyme® (laronidase) for Mucopolysaccharidosis type I in 2003 (worldwide), Elaprase® (idursulfase) for Mucopolysaccharidosis type II in 2007 (Japan and Asia-Pacific), Cerdelga® (eliglustat) for Gaucher disease type 1 in 2014 (worldwide), and Cerezyme® (imiglucerase) label expansion for Gaucher disease type 3 in 2016 (China).

From 2016-2018, Dr. Cox was Chief Medical Officer at Editas Medicine, where he oversaw clinical development, regulatory affairs, and scientific communications. He was the medical lead on the first US IND for an in vivo delivered CRISPR-based medicine, EDIT-101, to treat Leber congenital amaurosis type 10, the most common cause of genetic blindness in children.

Dr. Cox is a board-certified geneticist (clinical, biochemical, and molecular) who continues to see patients part-time at Boston Children’s Hospital, where he was previously on the full-time staff and completed his pediatrics and genetics training. He is an Instructor in Pediatrics at Harvard Medical School. Dr. Cox received his MD, PhD from the University of California at San Diego in 1989, and a BA in biology magna cum laude from Harvard College in 1980. He has over 80 peer-reviewed publications.

In 2019, Gerry joined the board of the National Tay-Sachs and Allied Diseases Association, where he leads their strategic research initiative. He was a founding member of both the Pediatric Cardiomyopathy Registry (PCMR) and the Barth Syndrome Foundation (BSF), and in 2020, he joined the BSF gene therapy advisory board.

A Board-certified medical geneticist, Dr. Skotko is the Emma Campbell Endowed Chair on Down Syndrome at Massachusetts General Hospital. As the Director of the hospital’s Down Syndrome Program, he has dedicated his professional energies toward children with cognitive and development disabilities. He co-authored the national award-winning books, Common Threads: Celebrating Life with Down Syndrome and Fasten Your Seatbelt: A Crash Course on Down Syndrome for Brothers and Sisters. He is a graduate of Duke University, Harvard Medical School, and Harvard Kennedy School, and he is currently an Associate Professor at Harvard Medical School. Dr. Skotko is a leader on clinical and translational research about Down syndrome. He has been featured in The Wall Street Journal, The New York Times, The Washington Post, The L.A. Times, NPR’s “On Point,” and ABC’s “Good Morning America.” Dr. Skotko has a sister with Down syndrome and serves on the Honorary Board of Directors for the Massachusetts Down Syndrome Congress.

Dr. Korson graduated in Medicine at the University of Toronto School of Medicine (1982), then completed a pediatric residency nearby at Toronto’s Hospital for Sick Children. After completing a fellowship in genetics at Boston’s Children's Hospital (1990), he became director of the Metabolism Clinic at Children's until 2000. He then transferred across town to Tufts Medical Center to become director of the Metabolism Service, as well as Associate Professor of Pediatrics at Tufts University School of Medicine, serving there until 2014.

Dr. Korson advocates for innovation in medical education and clinical practice models as a response to the growing crisis in metabolic health care due to the shortage of clinicians available to serve this patient community. He co-founded in 2007 the North American Metabolic Academy which has become an integral component of genetic resident training on this continent. Between 2007 and 2011, he founded and directed the Metabolic Outreach Service, based at Tufts Medical Center, serving five major teaching hospitals in the northeastern US without an on-site metabolic service. In 2017, Dr. Korson joined VMP Genetics in Atlanta as Director of Education and Director of Physician Support Services, a telehealth consulting practice that assists physicians in the care of their metabolic patients.

Dr. Beverly Hay grew up in California, graduating from UC Santa Barbara with a bachelor’s degree after taking any genetic classes they had (which wasn’t many). After working in a research lab, Dr. Hay sought a different path and went to Jefferson Medical College in Philadelphia, where she received her MD. After completing Pediatrics residency at the University of Rochester/Strong Memorial Hospital in NY, Dr. Hay trained in genetics at the National Institutes of Health with a focus on the underlying causes of immune deficiencies. Dr.Hay has been the Chief of Pediatric Genetics at UMass Health for over a dozen years, and is an Associate Professor of Pediatrics at the UMass Chan Medical School. Dr. Hay’s clinical practice is varied, including the care of children and adults across a wide range of genetic disorders. Together with two colleagues, Dr. Hay launched a dedicated clinic at UMass for coordinated treatment of individuals with Down syndrome, and serves on a medical advisory board for the Massachusetts Down Syndrome Congress.

Dr. Arnold graduated from Indiana University and received a Master’s in Medical Genetics from Indiana University-Purdue University at Indianapolis. She received her MD from Upstate Medical University and completed residency in Pediatrics and Northwestern University, and a fellowship in Clinical Genetics and Clinical Biochemical Genetics at the University of Colorado. Dr. Arnold has been a clinical and biochemical geneticist for thirty years. She is currently the Clinical Research Director for Pediatric Genetics and Genomics at the University of Pittsburgh Medical Center. Her interests are in clinical outcomes research and development of clinical practice protocols.

Dr. Brailey obtained her undergraduate degree in biology from Harvard University and her medical degree from the University of Connecticut. She completed residency and fellowship training in genetics at Yale University and is board-certified in clinical genetics, cytogenetics, and molecular genetics. She is currently an assistant professor and associate director of tumor cytogenomics at Mount Sinai Medical Center in New York City, and serves on the board of directors of the New England Regional Genetics Group. She has also served as Associate Director of Cytogenetics at Ameripath Northeast (Quest Diagnostics) and as Technical Director of Molecular Diagnostics and Clinical Trials at Dianon Systems (Laboratory Corporation of America), both in Shelton, CT and has been adjunct faculty at the University of Connecticut and the University of New Haven. Her interests include DNA sequencing and data analysis, genetics education and outreach, and metabolic disease. She and her husband, Bob, reside in Derby, CT, where she enjoys hiking, swimming, playing the violin, reading, and promoting community engagement.

Dr. Korson graduated in Medicine at the University of Toronto School of Medicine (1982), then completed a pediatric residency nearby at Toronto’s Hospital for Sick Children. After completing a fellowship in genetics at Boston’s Children's Hospital (1990), he became director of the Metabolism Clinic at Children's until 2000. He then transferred across town to Tufts Medical Center to become director of the Metabolism Service, as well as Associate Professor of Pediatrics at Tufts University School of Medicine, serving there until 2014.

Dr. Korson advocates for innovation in medical education and clinical practice models as a response to the growing crisis in metabolic health care due to the shortage of clinicians available to serve this patient community. He co-founded in 2007 the North American Metabolic Academy which has become an integral component of genetic resident training on this continent. Between 2007 and 2011, he founded and directed the Metabolic Outreach Service, based at Tufts Medical Center, serving five major teaching hospitals in the northeastern US without an on-site metabolic service. In 2017, Dr. Korson joined VMP Genetics in Atlanta as Director of Education and Director of Physician Support Services, a telehealth consulting practice that assists physicians in the care of their metabolic patients.

Dr. Kritzer is an attending in the Division of Genetics and Genomics at Boston Children’s Hospital. She graduated from the Albert Einstein College of Medicine in Bronx, NY. She did her Pediatrics residency at The Floating Hospital for Children at Tufts Medical Center in Boston, MA and then completed fellowships in Clinical Genetics and Medical Biochemical Genetics at Boston Children’s Hospital. Her clinical work is focused on the care of children and adults with rare metabolic disorders. She serves as physician lead for Quality Improvement in the Division of Genetics. As QI lead, she creates and implements patient care initiatives designed to improve patient safety and patient and family experience. Her work is dedicated to addressing the psychosocial needs of patients with rare diseases with a focus on improving quality of life. She serves as a Principal Investigator for several lysosomal storage disease registries, as co-director of the BoLD lysosomal storage disease program at Boston Children’s and as one of the main physicians for the PAL clinics here.

Katherine Anderson, MD is a medical geneticist at the University of Vermont Medical Center, and assistant professor at the Larner College of Medicine at the University of Vermont.

Her clinical interests include inborn errors of metabolism, pediatric genetics and prenatal genetic counseling; her research interests are focused on whole genome sequencing in acute unexplained illness. She performs a variety of specialized procedures, including skin biopsies.

Dr. Anderson enjoys connecting with her patients and their families to complete the diagnostic odyssey and to develop a strategy that best supports the patient in growth, development and health. Genetics is a confusing and ever-changing specialty, and she relishes the opportunity to learn with, and from, every patient.

Dr. Hilary Scott received her PhD in Genetics from Texas A&M University studying the role of posttranslational modifications in neural development and physiology. In 2018, she joined Ocular Genomics Institute at Massachusetts Eye and Ear Infirmary in the Department of Ophthalmology at Harvard Medical School for her postdoctoral training on the genetic causality of inherited retinal degenerations. She continues to be interested in the impact of genetic variation in IRD patients that is missed by current genomics techniques. Her current work focuses on developing methods to validate potential disease-causing variants uncovered by Whole Genome Sequencing. Since the start of 2022, Dr. Scott has been the Associate Director of Genomics in the OGI. The Genomics core provides resources to help support the researchers at MEE that work to understand the causes of vision loss and develop sight-save treatments through their translational research.

Dr. Korson graduated in Medicine at the University of Toronto School of Medicine (1982), then completed a pediatric residency nearby at Toronto’s Hospital for Sick Children. After completing a fellowship in genetics at Boston’s Children's Hospital (1990), he became director of the Metabolism Clinic at Children's until 2000. He then transferred across town to Tufts Medical Center to become director of the Metabolism Service, as well as Associate Professor of Pediatrics at Tufts University School of Medicine, serving there until 2014.

Dr. Korson advocates for innovation in medical education and clinical practice models as a response to the growing crisis in metabolic health care due to the shortage of clinicians available to serve this patient community. He co-founded in 2007 the North American Metabolic Academy which has become an integral component of genetic resident training on this continent. Between 2007 and 2011, he founded and directed the Metabolic Outreach Service, based at Tufts Medical Center, serving five major teaching hospitals in the northeastern US without an on-site metabolic service. In 2017, Dr. Korson joined VMP Genetics in Atlanta as Director of Education and Director of Physician Support Services, a telehealth consulting practice that assists physicians in the care of their metabolic patients.

Dr. Korson graduated in Medicine at the University of Toronto School of Medicine (1982), then completed a pediatric residency nearby at Toronto’s Hospital for Sick Children. After completing a fellowship in genetics at Boston’s Children's Hospital (1990), he became director of the Metabolism Clinic at Children's until 2000. He then transferred across town to Tufts Medical Center to become director of the Metabolism Service, as well as Associate Professor of Pediatrics at Tufts University School of Medicine, serving there until 2014.

Dr. Korson advocates for innovation in medical education and clinical practice models as a response to the growing crisis in metabolic health care due to the shortage of clinicians available to serve this patient community. He co-founded in 2007 the North American Metabolic Academy which has become an integral component of genetic resident training on this continent. Between 2007 and 2011, he founded and directed the Metabolic Outreach Service, based at Tufts Medical Center, serving five major teaching hospitals in the northeastern US without an on-site metabolic service. In 2017, Dr. Korson joined VMP Genetics in Atlanta as Director of Education and Director of Physician Support Services, a telehealth consulting practice that assists physicians in the care of their metabolic patients.

Dr. Stephanie Sacharow is a medical biochemical geneticist at Boston Children’s Hospital. Dr. Sacharow graduated from Vanderbilt University and then the University of Miami Miller School of Medicine. Dr. Sacharow is board certified in Pediatrics, Medical Genetics and Medical Biochemical Genetics, and has been practicing over 15 years. Dr. Sacharow was recruited to Boston Children’s Hospital in 2015, and is a member of the Harvard Medical School faculty. Dr. Sacharow assists in diagnosis, management, and counseling for children and adults with a wide variety of inherited conditions. As an experienced dysmorphologist and medical biochemical geneticist, she sees patients with developmental disabilities, congenital anomalies, genetic syndromes, and metabolic disease. She was involved with the implementation and execution of expanded newborn screening for metabolic disease in South Florida. Dr. Sacharow is currently the medical director of the PAL clinic at Boston Children’s Hospital and the director of the Dr. Harvey Levy Program for Phenylketonuria and Related Conditions. Dr. Sacharow is also a provider for the BoLD Lysosomal Storage Disease Program. Dr. Sacharow is Associate Program Director for the Medical Biochemical Genetics training program and faculty advisor for the Genetics Student Interest Group at Harvard Medical School. She is currently involved in many research studies with a focus on Phenylketonuria.

Jodi D. Hoffman, MD is Associate Professor of Pediatrics at Boston University School of Medical and practices Medical Genetics at Boston Medical Center where she is Chief of the Division of Genetics. She also serves as Medical Director of the Boston University Genetic Counseling Master’s Program. She received her medical degree at Albert Einstein College of Medicine in the Bronx. Dr. Hoffman then completed a Pediatric residency at Yale Children’s Hospital in New Haven. Dr. Hoffman’s Medical Genetics training was completed at Children’s Hospital of Philadelphia. Dr. Hoffman practices as a general medical geneticist and provides counseling, diagnostic care, and management regarding prenatal care, neonates, children, and adults with genetic conditions. She is plays a role in the optimization of lab utilization of genetic testing, serves as a member of the Scientific Advisory Council for the National Tay-Sachs and Allied Diseases organization, and aids in the release of incidental genetic findings for the Framingham Heart Study.

Dr. Matthew Warman is Professor of Genetics and Orthopedic Surgery at Harvard Medical School, Boston. He also serves as the Director of the Orthopedic Research Laboratories at Boston Children’s Hospital. Dr. Warman received a Sc.B. in Engineering from Brown University in Rhode Island and an M.D. from Cornell University in New York. He was fortunate to have received excellent mentoring during his scientific training with Drs. Adele Boskey and Bjorn Olsen. Dr. Warman’s research focuses on patients with genetic diseases that affect the skeleton and vascular systems. He and members of his lab contributed to the identification of disease-causing genes for Mendelian disorders, including Metachondromatosis, Achondrogenesis type 1A, Camptodactyly-Arthropathy-Coxa Vara-Pericarditis syndrome, and Osteoporosis-Pseudoglioma syndrome, and non-hereditary disorders, including CLOVES syndrome, Klippel-Trenaunay syndrome, and Arteriovenous Malformation. Dr. Warman is a member of the Medical Advisory Board of the Osteogenesis Imperfecta Foundation and the Scientific Advisory Council of the Fibrous Dysplasia Foundation.

Dr. Brailey obtained her undergraduate degree in biology from Harvard University and her medical degree from the University of Connecticut. She completed residency and fellowship training in genetics at Yale University and is board-certified in clinical genetics, cytogenetics, and molecular genetics. She is currently the Associate Scientific Director of Cytogenetics for HNL Lab Medicine in Allentown, PA and serves on the board of directors of the New England Regional Genetics Group. She has also served as Associate Director of Cytogenetics at Ameripath Northeast (Quest Diagnostics) and as Technical Director of Molecular Diagnostics and Clinical Trials at Dianon Systems (Laboratory Corporation of America), both in Shelton, CT and has been adjunct faculty at the University of Connecticut and the University of New Haven. Her interests include DNA sequencing and data analysis, genetics education and outreach, and metabolic disease. She and her husband, Bob, reside in Derby, CT, where she enjoys hiking, swimming, playing the violin, reading, and promoting community engagement.

Dr. Trapane is the Chief of Pediatric Genetics at the University of Florida – Jacksonville. Beginning in June 2018, she founded a new pediatric division for UF-Jacksonville and began building new pediatric service line for Wolfson Children’s Hospital.

Dr. Trapane received her medical degree from the University of Texas Health Science Center San Antonio. She completed her pediatric residency and clinical genetics fellowship at the University of Texas health Science Center Houston. She is a Fellow of the American Academy of Pediatrics and a Fellow of the American College of Medical Genetics and Genomics. She is also an elected member of the Executive Committee of the American Academy of Pediatrics Council on Genetics. Her primary clinical interests are in neurofibromatosis and connective tissue disorders. She is a member of the Clinical Care Advisory Board for Children’s Tumor Foundation.

Dr. Trapane received a Master of Medical Education from the University of Iowa where she was actively involved with both undergraduate and graduate level medical education. She has trained and mentored numerous physicians throughout their education and careers as a didactic course director and fellowship director.

Dr. Arnold graduated from Indiana University and received a Master’s in Medical Genetics from Indiana University-Purdue University at Indianapolis. She received her MD from Upstate Medical University and completed residency in Pediatrics and Northwestern University, and a fellowship in Clinical Genetics and Clinical Biochemical Genetics at the University of Colorado. Dr. Arnold has been a clinical and biochemical geneticist for thirty years. She is currently the Clinical Research Director for Pediatric Genetics and Genomics at the University of Pittsburgh Medical Center. Her interests are in clinical outcomes research and development of clinical practice protocols.

HOST & SPEAKERS

Following his graduation from Trinity College (CT) and Harvard Medical School, Dr. Weinstein did a residency, chief residency, and fellowship in pediatric endocrinology at Boston Children's Hospital. He subsequently obtained a Masters in Clinical Investigation from Harvard and MIT, and became Director of the Glycogen Storage Disease Program at Boston Children's. In 2005, Dr. Weinstein moved to the University of Florida where he directed the Glycogen Storage Disease Program and became a tenured professor. He and his team moved to the University of Connecticut and Connecticut Children's Medical Center in 2017 to perform gene therapy for GSD. In 2020, he left the academic world to serve as Vice President of Clinical Development and the medical lead for the GM1 gangliosidosis gene therapy trial at Passage Bio. At the time of his departure from clinical care, Dr. Weinstein was following over 700 glycogen storage disease patients from 49 states and 52 countries.

Dr. Weinstein has published over 100 publications on glycogen storage disease and gene therapy for rare diseases. In 1989, he was named as one of the inaugural Goldwater Scholars. He is a former Jan Albrecht Award winner from the American Association for the Study of Liver Diseases, and he was the George Sacher Award winner from the Gerontological Society of America. In 2013, Dr. Weinstein was honored with the Order of the Smile international humanitarian award, and he was knighted in Poland. He has also been inducted in the Rare Disease Research Hall of Fame.

Dr. Gerry Cox founded Gerald Cox Rare Care Consulting, LLC in 2018 to assist small biotechnology companies develop drugs for rare genetic diseases. He is a 20-year veteran of the biotechnology industry and a practicing clinical geneticist for over 25 years. Dr. Cox has consulted in a number of disease areas, including inborn errors of metabolism, muscular dystrophy, neurological disorders, immunodeficiencies, and complement-mediated diseases, using a number of therapeutic approaches, ranging from small molecules to biologics and genome editing. Dr. Cox often serves in a Chief Medical Officer role at these companies and provides strategic advice on disease targets, clinical development, and regulatory interactions. In September 2020, one of his clients, CANbridge Pharmaceuticals, a China-based rare disease company, received regulatory approval in China for Hunterase (idursulfase beta), an enzyme replacement therapy for Mucopolysaccharidosis type II (Hunter syndrome).

Dr. Cox began his industry career in 2000 at Genzyme, where he rose to Vice President of Clinical Development for Rare Diseases. During his 16 years there, he led the clinical development programs for several lysosomal storage disorders that resulted in the approvals of Aldurazyme® (laronidase) for Mucopolysaccharidosis type I in 2003 (worldwide), Elaprase® (idursulfase) for Mucopolysaccharidosis type II in 2007 (Japan and Asia-Pacific), Cerdelga® (eliglustat) for Gaucher disease type 1 in 2014 (worldwide), and Cerezyme® (imiglucerase) label expansion for Gaucher disease type 3 in 2016 (China).

From 2016-2018, Dr. Cox was Chief Medical Officer at Editas Medicine, where he oversaw clinical development, regulatory affairs, and scientific communications. He was the medical lead on the first US IND for an in vivo delivered CRISPR-based medicine, EDIT-101, to treat Leber congenital amaurosis type 10, the most common cause of genetic blindness in children.

Dr. Cox is a board-certified geneticist (clinical, biochemical, and molecular) who continues to see patients part-time at Boston Children’s Hospital, where he was previously on the full-time staff and completed his pediatrics and genetics training. He is an Instructor in Pediatrics at Harvard Medical School. Dr. Cox received his MD, PhD from the University of California at San Diego in 1989, and a BA in biology magna cum laude from Harvard College in 1980. He has over 80 peer-reviewed publications.

In 2019, Gerry joined the board of the National Tay-Sachs and Allied Diseases Association, where he leads their strategic research initiative. He was a founding member of both the Pediatric Cardiomyopathy Registry (PCMR) and the Barth Syndrome Foundation (BSF), and in 2020, he joined the BSF gene therapy advisory board.

Dr. Rajabi obtained her M.D. degree from the University of Toledo College of Medicine in Toledo, OH. Following pediatrics residency at Wake Forest University Baptist Medical Center in Winston-Salem, NC, she completed a second residency in clinical genetics and a fellowship in medical biochemical genetics at Harvard Medical School. In 2017, she joined the clinical faculty in the division of genetics and genomics. Dr. Rajabi is particularly interested in medical education, previously selected as chief fellow for the Harvard Medical School Genetics Training Program, and now serving as assistant program director. She is a member of the BCH Academy, and she completed the 2016-2017 Rare Disease Research Network Certificate Program through Children’s National Medical Center to train in specific research tools and methods unique to rare diseases.

Monkol received an undergraduate degree in Engineering (Computer Engineering) in 2000 at the University of New South Wales (UNSW) and then worked for IBM for 3.5 years. He returned to UNSW and completed undergraduate degrees in Science (Physiology) and Engineering (Bioinformatics) and received the University Medal in 2007. He completed his PhD (Medicine) at the University of Sydney in 2012 with the thesis topic: Functional differences between alpha-actinin-2 and alpha-actinin-3. Monkol did his post-doctoral training in Daniel MacArthur’s lab based at Massachusetts General Hospital, Harvard Medical School and the Broad Institute.

Dr. Korson graduated in Medicine at the University of Toronto School of Medicine (1982), then completed a pediatric residency nearby at Toronto’s Hospital for Sick Children. After completing a fellowship in genetics at Boston’s Children's Hospital (1990), he became director of the Metabolism Clinic at Children's until 2000. He then transferred across town to Tufts Medical Center to become director of the Metabolism Service, as well as Associate Professor of Pediatrics at Tufts University School of Medicine, serving there until 2014.

Dr. Korson advocates for innovation in medical education and clinical practice models as a response to the growing crisis in metabolic health care due to the shortage of clinicians available to serve this patient community. He co-founded in 2007 the North American Metabolic Academy which has become an integral component of genetic resident training on this continent. Between 2007 and 2011, he founded and directed the Metabolic Outreach Service, based at Tufts Medical Center, serving five major teaching hospitals in the northeastern US without an on-site metabolic service. In 2017, Dr. Korson joined VMP Genetics in Atlanta as Director of Education and Director of Physician Support Services, a telehealth consulting practice that assists physicians in the care of their metabolic patients.

Dr. Kritzer is an attending in the Division of Genetics and Genomics at Boston Children’s Hospital. She graduated from the Albert Einstein College of Medicine in Bronx, NY. She did her Pediatrics residency at The Floating Hospital for Children at Tufts Medical Center in Boston, MA and then completed fellowships in Clinical Genetics and Medical Biochemical Genetics at Boston Children’s Hospital. Her clinical work is focused on the care of children and adults with rare metabolic disorders. She serves as physician lead for Quality Improvement in the Division of Genetics. As QI lead, she creates and implements patient care initiatives designed to improve patient safety and patient and family experience. Her work is dedicated to addressing the psychosocial needs of patients with rare diseases with a focus on improving quality of life. She serves as a Principal Investigator for several lysosomal storage disease registries, as co-director of the BoLD lysosomal storage disease program at Boston Children’s and as one of the main physicians for the PAL clinic​.

Dr. Burke is board certified in both Clinical Genetics and Pediatrics. She serves as the Director of the University of Vermont Medical Center Clinical Genetics Program and is a professor in the UVM College of Medicine. Education in genetics to learners at all levels from medical school through practicing physicians has been an important part of her career. She serves as Chair of the Council of Genetics for the American Academy of Pediatrics and on the board of the New England Regional Genetics Network. She has given numerous CME courses and webinars and has worked on a national level to provide genetics and genomics educations to medical providers at all levels. She currently serves on the faculty for the Weitzman Institute Pediatric ECHO program providing telemedicine genomic education and consultations to providers. She serves as a member of UTRIG, a collaboration with pathology to provide interactive teaching modules in genetics for medical students. She also serves as the AAP representative on the Inter-Society Coordinating Committee for Practitioner Education in Genomics through the NIH.

Monkol received an undergraduate degree in Engineering (Computer Engineering) in 2000 at the University of New South Wales (UNSW) and then worked for IBM for 3.5 years. He returned to UNSW and completed undergraduate degrees in Science (Physiology) and Engineering (Bioinformatics) and received the University Medal in 2007. He completed his PhD (Medicine) at the University of Sydney in 2012 with the thesis topic: Functional differences between alpha-actinin-2 and alpha-actinin-3. Monkol did his post-doctoral training in Daniel MacArthur’s lab based at Massachusetts General Hospital, Harvard Medical School and the Broad Institute.

Michele Spencer-Manzon, MD grew-up in New England, eventually going to the University of Massachusetts Medical School. She went to Duke for residency and fellowship training where she complete General Genetics residency and a Medical Biochemical Genetics fellowship. She worked at Duke for a year after training and then came home to New England to take a position on faculty at Yale where she has been for the past 6 years.

A Board-certified medical geneticist, Dr. Skotko is the Emma Campbell Endowed Chair on Down Syndrome at Massachusetts General Hospital. As the Director of the hospital’s Down Syndrome Program, he has dedicated his professional energies toward children with cognitive and development disabilities. He co-authored the national award-winning books, Common Threads: Celebrating Life with Down Syndrome and Fasten Your Seatbelt: A Crash Course on Down Syndrome for Brothers and Sisters. He is a graduate of Duke University, Harvard Medical School, and Harvard Kennedy School, and he is currently an Associate Professor at Harvard Medical School. Dr. Skotko is a leader on clinical and translational research about Down syndrome. He has been featured in The Wall Street Journal, The New York Times, The Washington Post, The L.A. Times, NPR’s “On Point,” and ABC’s “Good Morning America.” Dr. Skotko has a sister with Down syndrome and serves on the Honorary Board of Directors for the Massachusetts Down Syndrome Congress.

Dr. Gerry Cox founded Gerald Cox Rare Care Consulting, LLC in 2018 to assist small biotechnology companies develop drugs for rare genetic diseases. He is a 20-year veteran of the biotechnology industry and a practicing clinical geneticist for over 25 years. Dr. Cox has consulted in a number of disease areas, including inborn errors of metabolism, muscular dystrophy, neurological disorders, immunodeficiencies, and complement-mediated diseases, using a number of therapeutic approaches, ranging from small molecules to biologics and genome editing. Dr. Cox often serves in a Chief Medical Officer role at these companies and provides strategic advice on disease targets, clinical development, and regulatory interactions. In September 2020, one of his clients, CANbridge Pharmaceuticals, a China-based rare disease company, received regulatory approval in China for Hunterase (idursulfase beta), an enzyme replacement therapy for Mucopolysaccharidosis type II (Hunter syndrome).

Dr. Cox began his industry career in 2000 at Genzyme, where he rose to Vice President of Clinical Development for Rare Diseases. During his 16 years there, he led the clinical development programs for several lysosomal storage disorders that resulted in the approvals of Aldurazyme® (laronidase) for Mucopolysaccharidosis type I in 2003 (worldwide), Elaprase® (idursulfase) for Mucopolysaccharidosis type II in 2007 (Japan and Asia-Pacific), Cerdelga® (eliglustat) for Gaucher disease type 1 in 2014 (worldwide), and Cerezyme® (imiglucerase) label expansion for Gaucher disease type 3 in 2016 (China).

From 2016-2018, Dr. Cox was Chief Medical Officer at Editas Medicine, where he oversaw clinical development, regulatory affairs, and scientific communications. He was the medical lead on the first US IND for an in vivo delivered CRISPR-based medicine, EDIT-101, to treat Leber congenital amaurosis type 10, the most common cause of genetic blindness in children.

Dr. Cox is a board-certified geneticist (clinical, biochemical, and molecular) who continues to see patients part-time at Boston Children’s Hospital, where he was previously on the full-time staff and completed his pediatrics and genetics training. He is an Instructor in Pediatrics at Harvard Medical School. Dr. Cox received his MD, PhD from the University of California at San Diego in 1989, and a BA in biology magna cum laude from Harvard College in 1980. He has over 80 peer-reviewed publications.

In 2019, Gerry joined the board of the National Tay-Sachs and Allied Diseases Association, where he leads their strategic research initiative. He was a founding member of both the Pediatric Cardiomyopathy Registry (PCMR) and the Barth Syndrome Foundation (BSF), and in 2020, he joined the BSF gene therapy advisory board.

Host, Mark Korson, MD, is a Founding Board Member at RNE. Dr. Korson is a Clinical Biochemical Geneticist and Director of Physician Support and Director of Education at VMP Genetics. He is also co-founder and co-director of the North American Metabolic Academy (NAMA), sponsored by the Society for Inherited Metabolic Disorders (SIMD).​

Amy Kritzer MD, a Clinical Biochemical Geneticist, is an attending in the Division of Genetics and Genomics at Boston Children’s Hospital.. She also serves as a Principal Investigator for several lysosomal storage disease registries, and as co-director of the BOLD lysosomal storage disease program at Boston Children’s Hospital.

Angela E. Lin, MD is a Board-certified pediatrician and clinical geneticist. At Massachusetts General Hospital, she is a Staff Geneticist, and a Professor in Pediatrics at Harvard Medical School.

Dr. Lin also works in birth defects surveillance at the MA Dept. of Public Health.

Brian Skotko MD is a A Board-certified medical geneticist and Co-Director of the Down Syndrome Program at Massachusetts General Hospital.

Dr. Skotko has dedicated his professional energies toward children with cognitive and development disabilities. In 2001 he co-authored the national award-winning book, Common Threads: Celebrating Life with Down Syndrome and, most recently, Fasten Your Seatbelt: A Crash Course on Down Syndrome for Brothers and Sisters.

Jodi Hoffman MD is a Medical Geneticist at Boston Medical Center. Dr. Hoffman practices as a general medical geneticist and provides counseling and diagnosis regarding prenatal care, neonates, children and adults with genetic conditions. she developed special interests in Jewish genetic diseases, hereditary cancer syndromes, connective tissue disorders and the 22q11.2 deletion syndrome.

Casie Genetti, MS, CGC, is a genetic counselor and project manager in the Division of Genetics and Genomics and the Manton Center for Orphan Disease Research at Boston Children’s Hospital. Casie manages several clinical research studies focused on rare and undiagnosed disorders, gene discovery, and the utilization of genomic sequencing.

Kathleen Swenson is the current Program Director for the Master's Program in Genetic Counseling at Boston University School of Medicine. She is a graduate of Sarah Lawrence College and holds a Master of Public Health from Columbia University. Throughout Kathleen's career, she has provided clinical care across multiple specialties, advocacy work at the national level and local levels, and held positions in industry as a Medical Affairs Genetic Counselor. Her professional interests include inter-professional education, improving access to genetic counseling services for underserved populations and raising awareness of rare disease.