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.
Muscle thickening at the lower tip of the heart, with nerve symptoms such as numbness and pain, is assessed using echocardiography, cardiac MRI, ECG and gene screening.
Disproportionate short stature, sparse hair, immune abnormalities and bone marrow failure follow RMRP gene mutations in CHH-AD, and testing confirms the diagnosis.
Lower-limb weakness and stiffness with lens clouding and delayed speech have been traced to de novo FAR1 variants and, in other patients, to PEX16 gene mutations.
Uncontrolled complement activation leaves dense deposits in the kidney's glomeruli; variants in CFH and CFHR5 can be identified by testing to confirm MPGN II.
Studies of SORD, SGPL1, PMP2 and Mtmr2 shape what is known about CMTX, a neuropathy causing muscle weakness, atrophy and sensory loss in the limbs.
CHRNA1 mutations reduce acetylcholine receptors at the neuromuscular junction, causing muscle weakness and fatigue; nerve stimulation studies support diagnosis.
Discover the importance of genetic testing in diagnosing Coffin-Siris Syndrome & intellectual disability, informing treatment plans, and guiding family planning.
Numerous intestinal polyps together with benign skin tumors called pilomatricomas mark this recessive polyposis, where APC and MYH germline testing pins down the cause.