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.
Metabolic crises, muscle weakness, cardiac arrhythmias and intellectual disability trace to GNB5 mutations, which testing can find before symptoms are full.
Impaired growth, developmental delay, low muscle tone and liver dysfunction occur together in GIRHDH, with recessive IARS mutations reported as a cause.
Mutations in ATAD3A, a gene needed for mitochondrial function, cause Harel-Yoon syndrome, with developmental delays, neurological issues and skin anomalies.
Mutations in SERPING1 cause the C1 inhibitor deficiency behind hereditary angioedema type 1, with swelling of the abdomen, limbs, face and airway.
Missing or faulty C1-INH protein, the result of SERPING1 mutations, brings sudden swelling plus longer-term cardiovascular, autoimmune and malignancy risks.
Balance problems, trouble walking and muscle stiffness vary widely between people with HSP77, which stems from COQ7 mutations affecting coenzyme Q10 and mitochondria.
Hypopigmentation, prolonged bleeding and possible lung or bowel problems follow faults in lysosome-related organelles. Both parents must carry the change for HPS-10.
Genome or exome sequencing can pinpoint variants such as the DAND5 loss-of-function change, and counselors explain the findings, inheritance and family risk.