MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
Brandon Colby is a physician-expert in the fields of genetic analysis and Personalized Preventive Medicine. He holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University's Graduate School of Business, and a degree in Genetics from the University of Michigan.
Dr. Colby is the author of the book Outsmart Your Genes and has developed numerous technologies that improve the analysis, interpretation, and actionability of genome sequencing data. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC).
Articles by Brandon Colby, MD are reviewed for accuracy by Sequencing's medical and scientific team. This page is for informational purposes and does not constitute medical advice.
SLC1A4 variants identified in two siblings widened what is known about the ASCT1 deficiency behind this syndrome of tetraplegia, thin corpus callosum and microcephaly.
Delayed or mistaken diagnosis is common in SAGA Syndrome, where spasticity, coordination difficulty and abnormal gait overlap with other neurological conditions.
Absent or severely reduced sperm in the ejaculate can stem from Spermatogenic Failure 15, where DNA analysis identifies the mutation and shapes individual fertility care.
Muscle weakness begins before birth alongside congenital bone fractures, and the first homozygous missense variant in ASCC1 has now been reported in this disorder.
Bone fragility and muscle weakness appear before birth in SMABF2, a disorder linked to ASCC1 mutations; carrier testing opens options such as preimplantation diagnosis.
Cerebellar degeneration in SCA43 slowly erodes walking, speech and fine motor skills; novel VPS13D variants and what a genetic result adds to diagnosis are covered.
Inheriting a mutated copy from each parent leads to SCAR22 and its progressive loss of coordination and balance; testing supports early diagnosis and counseling.
Explore genetic testing's critical role in diagnosing Spinocerebellar Ataxia Type 42, leading to early detection, personalized treatments, and informed family planning.