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.
An IVD gene mutation blocks the enzyme that breaks down leucine. Covers recessive inheritance, symptoms such as vomiting and lethargy, and confirmatory testing.
Infants may show poor feeding, vomiting and failure to thrive. The article explains blood, urine and imaging tests, plus carrier, prenatal and PGD options.
Part of the Kell blood group system, the Kel6 antigen sits on red blood cells, and blood tests for its presence help prevent reactions during a transfusion.
In Laron syndrome with elevated serum GH-binding protein, GHR gene mutations such as an intronic point mutation cause GH insensitivity and short stature.
In this form of Laron syndrome, GHR gene mutations leave serum GH-binding protein undetectable and block the response to growth hormone, causing short stature.
Variants in MYH7, MYBPC3 and the obscurin gene are tied to this poorly formed heart muscle; testing also flags relatives who need screening.
Benign tumors made of fat tissue, somatic lipomas are assessed with physical examination, ultrasound, CT or MRI, and sometimes biopsy to rule out malignancy.
Homozygous KCNQ1 mutations underlie the recessive form, showing up as a prolonged QT interval on an ECG; diagnosis combines ECG, family history and gene testing.