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.
Surfactant builds up in the alveoli of infants with MARS deficiency, bringing breathlessness and repeated lung infections; the inheritance pattern is recessive.
Babies with ASXL3 variants often struggle to feed and grow and have a small head; exome sequencing or a gene panel can confirm the syndrome and clarify recurrence risk.
Behavioral changes, short stature and facial differences accompany severe intellectual disability in SIDSBFDS, where a genetic result ends an ambiguous diagnosis.
Uncover how genetic testing aids in diagnosing Short-rib Thoracic Dysplasia 11, enhances prenatal care, guides genetic counseling, and propels research advances.
Prenatal DNA testing can spot DYNC2H1 mutations behind SRTD8, a ciliopathy marked by short ribs, a narrow thorax and occasionally extra digits.
Azoospermia or a sharply reduced sperm count can point to SPGF13; naming the underlying mutation helps clinicians weigh IVF, ICSI and reproductive counseling.
Men with azoospermia or severe oligospermia may carry chromosomal abnormalities, and the inheritance pattern found through testing shows the risk of passing SPGF 14 on.
Neurological deterioration, developmental delay and metabolic problems follow a missing molybdenum cofactor; gene testing confirms type C and can point to cPMP therapy.