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.
Too little thyroid-stimulating hormone from the pituitary leaves the thyroid underactive; TBL1X and IRS4 mutations and neonatal screening figure in its diagnosis.
Hormone levels and imaging separate central from peripheral cases, while a luteinizing hormone receptor mutation points to familial male-limited puberty.
Delays in sitting, walking and speaking prompt a multi-specialist evaluation; variants in PIGK, GNB1, GABRG1, ERF and CIC have been reported in profound GDD.
Cone photoreceptors fail gradually, dimming color and central vision; research on genes such as SARM1 and Emc1 and the case for early genetic diagnosis are covered.
A spinal curve that worsens through childhood is assessed with examination, X-rays and medical history; ROBO3 mutations link some cases to horizontal gaze palsy.
Involuntary muscle jerks alongside ptosis and limited eye movement; telling PEO with myoclonus from look-alike conditions rests on TWNK, POLG and POLG2 analysis.
Gradual loss of motor and cognitive skills can trace to PLA2G6, WWOX or SLC25A22 variants or to MELAS syndrome, and testing narrows which one is responsible.
Discover the importance of understanding Pseudoarylsulfatase A deficiency, its symptoms, and how genetic testing plays a crucial role in diagnosis and treatment. Learn more today.