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.
Peripheral nerves degenerate in AR-DHMN, weakening and wasting the muscles of the distal limbs; a homozygous COQ7 variant has been identified in patients.
Weakness and wasting of the hip and shoulder muscles define AR LGMD; whole-exome sequencing and cDNA analysis revealed a novel splice site variant in POPDC3.
Blood cancers starting in B-lymphocytes, with DLBCL as the most common subtype, plus the polymorphisms SNP309 and SNP72 and how testing informs prognosis.
Obesity, retinal degeneration, polydactyly and renal abnormalities follow from mutations in at least 21 genes, inherited recessively with a 25% risk per pregnancy.
Impaired salt reabsorption in the loop of Henle causes hypokalemia and metabolic alkalosis, and a novel compound heterozygous KCNJ1 mutation widens the known picture.
Brief convulsions in the first weeks of life must be told apart from more serious neonatal epilepsy, and mutations in KCNQ2 and SCN2A explain many of the cases.
Explore the genetic causes of bilateral renal agenesis, the role of genetic testing in early diagnosis, family planning, and ethical considerations in BRA research.
Spinal curvature and short stature usually surface in childhood or adolescence, and mutations in TRPV4, PAPSS2 or SLC26A2 can each produce brachyolmia.