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.
Severe obesity from a young age with insulin resistance, dyslipidemia and reproductive problems can point to CEP19 deficiency. Gene testing and counseling are covered.
Explore the impact of SIM1 deficiency on obesity, the critical role of genetic testing for early diagnosis, personalized treatment, and family planning insights.
Distinctive facial features, ear anomalies and skeletal malformations define OFCS2, and a novel PAX1 mutation in an Egyptian family widened its known range.
Thickened nails, painful calluses and oral leukokeratosis follow keratin gene mutations; a KRT16 case in a Chinese patient, alongside acral melanoma, is described.
Keratin mutations, KRT16 among them, produce the thick nails and painful calluses of PC4, and one reported patient also developed acral melanoma.
Painful thickening of the palms and soles marks nonepidermolytic palmoplantar keratoderma, which can mimic plantar warts. A study linked it to a TRPV3 mutation.
Children with PDDS have both blood cell deficiencies and developmental delay; novel BRF1 variants can confirm the syndrome and separate it from overlapping disorders.
Explore how genetic testing for Periventricular Nodular Heterotopia 6 aids in accurate diagnosis, informs treatment strategies, and supports genetic counseling.