Gerald F. Cox, MD, PhD

Dr. Gerald F. Cox, MD, PhD, is a board-certified clinical geneticist with over 25 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 the Genetics Clinic at Boston Children’s Hospital and is an Instructor in Pediatrics at Harvard Medical School. Dr. Cox began his career as a physician-scientist in Genetics at Boston Children's Hospital. After several years of patient care and laboratory research, he transitioned to his first industry position at Genzyme (now Sanofi), where over 16 years he held increasingly senior roles, eventually becoming Vice President of Rare Disease Clinical Development. During his tenure, he played a key 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, Niemann-Pick B 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 was a key contributor to 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 served on the Board of Directors for the National Tay-Sachs and Allied Diseases (NTSAD) Organization, where he chaired the Research Committee and helped families understand how their participation in clinical trials contributes to the advancement of novel treatments. He has authored over 100 publications on genetic disorders, clinical trials, 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 internship and residency in Pediatrics, followed by Clinical and Research fellowships in Genetics 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 was previously board-certified in Pediatrics by the American Board of Pediatrics. Over the course of his career, Dr. Cox has seamlessly integrated clinical excellence, mentorship, 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
• 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