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.
Both parents must carry a mutated copy for a child to be affected in this form, which can involve a short segment, the whole colon or part of the small intestine.
Faulty homologous recombination genes sit behind Bloom Syndrome, Fanconi Anemia, Ataxia Telangiectasia and Nijmegen Breakage Syndrome, with carrier and prenatal testing.
Mutations in ABCC8 or KCNJ11 disturb the channel controlling insulin release, causing hypoglycemia and seizures in infancy, with a 50% inheritance risk.
Whether hyperinsulinism is dominant or recessive depends on how many gene copies carry a mutation. Targeted analysis, sequencing and microarray testing are compared.
Sparse hair, missing teeth and reduced sweating arise from gene mutations passed on in an autosomal dominant pattern, with a 50% chance for each child.
Two copies of the mutated gene, one from each parent, bring sparse hair, abnormal teeth, dry skin and poor sweating. Biopsy and sweat tests support diagnosis.
Faulty phosphate regulation softens bone, giving short stature, bone pain, bowed legs, dental problems and fractures, with a 50% chance of passing HRD on.
Soft, weakened bones and skeletal deformity follow low phosphate in this recessive disorder. Clinical exam, blood and urine tests and DNA analysis confirm it.