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.
Photoreceptor cilia carry a retina-specific splice variant of the BBS5 protein, linking the retinal dystrophy seen in this subtype to a precise molecular change.
Two mutated copies of the gene, one from each parent, cause BBS7; next-generation sequencing reads many genes at once to separate it from other ciliopathies.
Even people with the same mutation can differ widely in BBS8, which is why vision loss, kidney dysfunction and learning difficulties need a genetic diagnosis.
When the BBS9 gene is mutated, the cilia that cells rely on fail, and vision loss, obesity, kidney abnormalities and intellectual disability can follow.
Rare and congenital, BN2 involves absent or underdeveloped breast tissue and nipples, usually autosomal dominant; testing supports early diagnosis and family planning.
The IARS2 gene links cataracts, growth hormone deficiency, short stature, partial sensorineural deafness and peripheral neuropathy, with Leigh Syndrome in some cases.
Skeletal changes such as an unusually positioned index finger and facial dysmorphism mark Catel-Manzke Syndrome, most often traced to mutations in the TGDS gene.
Cerebellar, facial and dental anomalies define CFDS, and a novel BRF1 variant in two siblings added hearing impairment and inner ear malformation to its spectrum.