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.
Discover Acute Recurrent Myoglobinuria, its symptoms, diagnosis, and the vital role of genetic testing in guiding treatment, management strategies, and family planning.
Hair loss, dental and gum abnormalities and intellectual disability appear together in this rare disorder, with severity varying widely; testing is used to confirm it.
Photoreceptor cells degenerate when AIPL1 is faulty, causing Leber congenital amaurosis, cone-rod dystrophy or retinitis pigmentosa; ERG, OCT and DNA tests assess it.
Potassium channel changes sit behind spinocerebellar ataxia type 13, neonatal diabetes mellitus and Cantu syndrome, and gene testing pinpoints the mutation in each.
Discolored, misshapen and fragile teeth can look like molar incisor hypomineralization, so finding an SP6 or enamelin mutation confirms amelogenesis imperfecta.
Both parents must carry the gene for a child to inherit recessive amelogenesis imperfecta; DNA analysis confirms it and supports carrier and prenatal testing.
Roughly 5-10% of ALS cases run in families; the rest are sporadic. Clinical exams, 18FDG-PET imaging and gene findings such as CYLD support a diagnosis.
When both copies of a gene carry a variant, ALS can begin in youth: a SIGMAR1 mutation and a de novo SETX variant are among the findings described here.