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.
Limited joint movement in the limbs and face, reduced muscle tone and developmental delay make CCLFHDD hard to recognize; DNA testing can confirm the diagnosis.
CIPA, a rare genetic disorder impeding pain sensation and sweating, is diagnosed via genetic testing. Early detection aids management and guides family planning.
Unlock the potential of genetic testing in diagnosing CMS11. Identify RAPSN mutations, ensure accurate diagnoses, personalized treatments, and informed family planning.
Limb-girdle weakness in CMS17 stems from AGRN mutations at the neuromuscular junction. Testing separates it from lookalike disorders and informs treatment choices.
Symptoms often start in infancy with trouble breathing, feeding and moving. CHRNE mutations disturb nerve-to-muscle signals; testing confirms CMS18 and shapes care.
Onset ranges from birth to adulthood, which makes CMS 2A hard to pin down clinically. RAPSN testing identifies the exact mutation and rules out similar disorders.
CHRNB1 mutations impair the neuromuscular junction, so weakness, feeding and breathing difficulty often start very early. Testing confirms the subtype and guides therapy.
Fatigue, ptosis and trouble breathing or swallowing mark CMS 3A, which is linked to the RAPSN gene. Confirming the mutation narrows the diagnosis and shapes treatment.