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.
Stress, temperature change or physical exertion can set off severe upper body pain episodes that resist ordinary painkillers and stem from an inherited gene mutation.
RFWD3, a gene with a role in DNA repair, was tied to Fanconi anemia in a second reported case that widened the clinical and molecular picture of this subtype.
Reduced fetal movement, cerebral hemorrhages and retinal bleeding define FACRHS, and sequencing looks for the mutations thought to underlie the syndrome.
Coenzyme Q10 production falters when a homozygous COQ7 variant disrupts the gene, contributing to the progressive lower-limb weakness and spasticity of HSP43.
Changes in the TECPR2 gene produce the progressive leg stiffness seen in HSP49, and a reported Chinese case widened the known mutation spectrum for this rare disorder.
Two copies of the altered gene, one from each parent, cause HSP 54: difficulty walking, muscle spasms and raised muscle tone. Sequencing pinpoints the variant.
Symptoms usually start in childhood or adolescence: spasticity, weakness and difficulty walking. Next-generation sequencing tests many genes at once to pin down HSP55.
Overlapping symptoms make HSP56 hard to tell from other spastic paraplegias. Exome sequencing covers the protein-coding regions where most disease-causing changes sit.