Exploring Ectodermal Dysplasia and Immunodeficiency 1: The Role of Genetic Testing
Abnormal hair, teeth, nails and sweat glands combine with a weakened immune response in EDA-ID, a disorder connected to mutations in the NFKBIA gene.
Brandon Colby, MD
MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
About Brandon
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).
Education
- BA in Genetics with Honors, University of Michigan · 2000
- MD, Mount Sinai School of Medicine · 2004
- MBA, Stanford University Graduate School of Business · 2007
Affiliations & Memberships
- Affiliate Specialist, American College of Medical Genetics and Genomics (ACMG)
- Associate, American College of Preventive Medicine (ACPM)
- Member, 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.
Articles by Brandon
Exercise-Induced Malignant Hyperthermia and RYR1
RYR1 variants disturb calcium control in muscle cells, so intense activity can bring on muscle rigidity and a rapid temperature rise; testing identifies carriers.
Familial Atrial Fibrillation: The Genetic Key to Cardiac Clarity
Rapid, irregular beating of the atria can run in families; a newly reported ISL1 variant points to a genetic component that testing may reveal for risk assessment.
Facing Familial Cold Autoinflammatory Syndrome: Genetic Testing as a Beacon of Hope
Hours after cold exposure, fever, rash and joint pain appear in this NLRP3-linked disorder; NSAIDs and interleukin-1 inhibitors are among the treatments described.
Familial Hypocalciuric Hypercalcemia: Decoding the Genetic Puzzle
High blood calcium with low urinary calcium is often mistaken for primary hyperparathyroidism; testing CaSR, GNA11 and AP2S1 tells FHH apart and can avert surgery.
Familial Isolated Pituitary Adenoma: Unlocking Genetic Mysteries for Better Management
Pituitary tumors in two or more relatives, sometimes causing acromegaly or Cushing's disease, are linked mainly to AIP mutations found by whole exome sequencing.
Familial Mediterranean Fever: Unraveling the Genetic Threads of an Ancient Ailment
Recurrent fever, abdominal and chest pain and joint inflammation trace to MEFV mutations affecting pyrin, and colchicine remains the mainstay of treatment.
Familial Type 3 Hyperlipoproteinemia: Genetic Testing as a Beacon of Hope
APOE mutations leave intermediate-density lipoproteins building up in the blood, raising atherosclerosis risk; testing separates FT3H from other lipid disorders.