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.
Inherited mutations behind susceptibility to type 4 can prompt earlier screening, guide the use of PARP inhibitors and help relatives decide whether to be tested.
Among French Canadians a founder SDHC mutation points to PGL5, where tumors of the paraganglia are often benign but can turn malignant, so relatives may be screened.
Unlike idiopathic Parkinson's, this rare form is tied directly to mutations in SLC6A3, so DNA analysis can support diagnosis, treatment choices and genetic counseling.
Loss of dopamine-producing neurons in the substantia nigra brings tremor, rigidity and bradykinesia; this form is passed down in an autosomal dominant pattern.
Disruption of mitochondrial ribosomes by an ERAL1 mutation explains the ovarian dysgenesis and sensorineural deafness that mark this rare inherited syndrome.
Pigmented nodules in the adrenal glands drive cortisol overproduction in PPNAD3, a rare cause of Cushing's syndrome linked to PRKAR1A mutations and Carney Complex.
NRXN1 mutations underlie Pitt-Hopkins-like syndrome 2, where motor delays, speech impairments and behavioral challenges overlap with other neurodevelopmental disorders.
Stunted growth, delayed puberty, fatigue and low blood pressure can follow the shortage of several pituitary hormones in PHD6, where a ROBO1 mutation has been reported.