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.
Profound muscle weakness and respiratory failure soon after birth mark this form, which follows autosomal recessive inheritance and is confirmed by GBE1 gene testing.
One-sided tremor, rigidity and slowed movement with wasting on the same side mark HPHS; autopsy findings show neuronal loss and Lewy bodies in the substantia nigra.
Caused by HBB gene mutations, hemoglobin E/beta thalassemia brings anemia and fatigue. At-risk couples can turn to carrier screening, PGT, CVS or amniocentesis.
Unstable transthyretin proteins build up in the heart and nerves; next-generation sequencing of the TTR gene identifies hereditary ATTR amyloidosis without a biopsy.
Spectrin, ankyrin and protein 4.1 mutations make red blood cells elliptical; hereditary elliptocytosis can range from no symptoms to anemia, jaundice and gallstones.
Tumors of the adrenal glands and nerve pathways can cause hypertension and palpitations in HPGL; among SDH gene mutations, SDHB carries a higher risk of malignancy.
Mutations in BRCA1, BRCA2 and STK11 raise lifetime ovarian cancer risk. Testing identifies carriers, guides surveillance choices and informs use of PARP inhibitors.
Lung scarring is the main threat in this form of HPS, usually linked to HPS1 and common in people of Puerto Rican descent. Nintedanib may be used before transplant.