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.
IDAR56 has been linked to TRAPPC9, a gene important in neural development; a homozygous mutation was reported in a Sudanese family, a first for Sub-Saharan Africa.
Next-generation sequencing has separated many intellectual disability subtypes, IDAR57 among them. Early diagnosis allows tailored therapy and educational planning.
Carrier parents show no symptoms, yet each passes one copy of the mutated gene that causes IDAR58. A genetic diagnosis can support earlier intervention and PGD.
Severe intellectual disability and developmental delays mark IDAR59; a homozygous loss-of-function mutation in IMPA1, a gene in inositol metabolism, was identified.
Intellectual disability, recurrent seizures and involuntary movements form the triad of ID-EEPS. Mutations in ARHGEF9 disturb GABAA receptor interactions in the brain.
Sugar processing falters when the sedoheptulokinase enzyme is lacking, and metabolites build up; developmental delay and neurological issues are described here.
Several genes can produce the molar tooth sign, muscle weakness and abnormal eye movements seen here; whole-exome sequencing helps find the responsible variant.
Ciliary function breaks down when ARL13B is mutated, bringing hypotonia, ataxia, delay and abnormal eye movements that testing can tie to a specific variant.