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.
Episodes of metabolic crisis, muscle breakdown, heart rhythm disturbance and intellectual disability define this rare syndrome, linked to CREBBP and TANGO2 variants.
Short stature, joint pain and skeletal deformities appear early as the spine and long bones develop abnormally. A lamin-B receptor gene mutation has been reported.
Kidneys that never form leave a newborn with one working kidney or none. The bilateral form is often fatal soon after birth, and genetic testing can detect it.
Two congenital disorders, one of kidney tissue and one of the retina, share developmental origins; β-catenin's effect on Tgfβ2 and Dkk1 is one studied mechanism.
Too few neutrophils leave children open to repeated infections; ELANE variants are a frequent cause, and the result guides G-CSF and antibiotic decisions.
Appetite, energy balance and insulin signaling all depend on SH2B1, and losing it brings severe obesity in early childhood that is often missed or misdiagnosed.
Cancerous T cells in the blood, skin and lymph nodes define this aggressive cutaneous lymphoma, which brings red rashes, itching and thickened skin.
Fusion of the lower limbs with gastrointestinal and urogenital malformations defines sirenomelia, and prenatal genetic screening can identify markers before birth.