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.
Jaw and limb underdevelopment varies widely in OLHS, affecting airway management, feeding and mobility; genetic testing can give families a definite diagnosis.
Mutations in GJB2, which encodes connexin 26, affect both skin and inner ear, pairing thickened palms and soles with hearing loss in PPKDS.
Thickened palms and soles come with a predisposition to esophageal carcinoma in this rare syndrome, where testing supports early detection and family planning.
Striate, focal and diffuse forms thicken the skin of the palms and soles; TRPV3 mutations and a painful case that responded to systemic retinoid therapy are described.
Small keratin-filled papules on the palms and soles mark PPKP1A, an autosomal dominant disorder linked to mutations in the AAGAB or COL14A1 genes.
Macrocephaly, hypotonia and distinctive facial features accompany this overgrowth disorder, caused by DIS3L2 mutations and carrying a predisposition to Wilms tumor.
Shortened limbs and abnormal spinal development mark PDTD, a rare skeletal dysplasia; DNA analysis can confirm the diagnosis and support carrier and prenatal testing.
Kidneys that cannot reabsorb magnesium leave blood levels low, causing muscle cramps, seizures and abnormal heart rhythms; CNNM2 variants are the reported cause.