Gerald F. Cox, MD, PhD

Dr. Gerald F. Cox, MD, PhD, is a board-certified clinical geneticist with over 20 years of experience advancing treatments for rare genetic diseases. He is the founder of Gerald Cox Rare Care Consulting, LLC, where he provides expert guidance to biotechnology companies across all phases of clinical development for investigational therapies. In addition, Dr. Cox serves as a part-time staff physician in Genetics at Boston Children’s Hospital and as an instructor in Pediatrics at Harvard Medical School, maintaining continuity care for patients with previously fatal genetic disorders who are now thriving into adulthood.

Dr. Cox began his career at Genzyme (now Sanofi Genzyme), where over 15 years he held increasingly senior roles, ultimately becoming Vice President of Rare Disease Clinical Development. During his tenure, he played a critical role in the global development and approval of treatments for several lysosomal storage disorders, including enzyme replacement therapies for Mucopolysaccharidosis types I and II, Gaucher disease, and infantile Pompe disease. He also contributed to the development of substrate reduction therapies and other novel therapeutic approaches, helping bring life-changing treatments to patients worldwide.

From 2016 to 2018, Dr. Cox served as Chief Medical Officer at Editas Medicine, where he led the clinical development of CRISPR-based genome editing medicines. Notably, he directed the first approved investigational new drug (IND) for an in vivo CRISPR therapy designed to treat Leber congenital amaurosis type 10, a genetic form of blindness. These efforts highlight his expertise in translating cutting-edge genomic science into safe and effective therapies for rare genetic conditions.

Throughout his career, Dr. Cox has also been actively involved in clinical practice, research, and advocacy. He serves on the Board of Directors for the National Tay-Sachs and Allied Diseases (NTSAD) organization, helping families understand clinical trials and contribute to rare disease research. He has authored numerous publications on genetic disorders, clinical trial design, and novel genomic therapies, reflecting his commitment to advancing scientific knowledge while directly improving patient care.

Dr. Cox earned his MD and PhD from the University of California, San Diego, and completed his residency in Pediatrics followed by a fellowship in Medical Genetics and Genomics at Boston Children’s Hospital/Harvard Medical School. He is board-certified in Clinical, Biochemical, and Molecular Genetics by the American Board of Medical Genetics and Genomics and formerly in Pediatrics by the American Board of Pediatrics. Over the course of his career, Dr. Cox has seamlessly integrated clinical excellence, research innovation, and industry leadership to improve the lives of individuals with rare genetic diseases around the world.

• University of California, San Diego – MD, 1989
• University of California, San Diego – PhD, 1989
• Boston Children’s Hospital / Boston Medical Center – Residency in Pediatrics, 1991
• Boston Children’s Hospital / Harvard Medical School – Fellowship in Medical Genetics and Genomics, 1994

• Clinical Biochemical Genetics – American Board of Medical Genetics and Genomics
• Clinical Genetics and Genomics – American Board of Medical Genetics and Genomics
• Pediatrics – American Board of Pediatrics

• Who’s Who Recognition, 2025 – Acknowledged for excellence and leadership in clinical genetics and rare disease research.
• Lifetime Achievement Award, 2026 – Honoring decades of pioneering contributions to the development of therapies for rare genetic disorders and commitment to patient care.
• Howard Hughes Physician Scientist Fellowship (2014–2017)

• NORD (National Organization for Rare Disorders)
• NTSAD (National Tay-Sachs & Allied Diseases Association)
• ARREBARTHCTNNB1 Connect Cure
• ACMG (American College of Medical Genetics and Genomics)
• SIMDSI
• EMSyndrome Foundation

• Board of Directors, NTSAD – helping families understand clinical trials and rare disease research

“Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.” – American Journal of Medical Genetics, 2023

“Neuropsychological endpoints for clinical trials in methylmalonic acidemia and propionic acidemia: A pilot study.” – Molecular Genetics and Metabolism Reports, 2023

“Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.” – American Journal of Medical Genetics, 2021