Estrogen Receptor Temperature-Sensitive Mutations
Temperature-dependent changes in the estrogen receptor can disturb its function and stability; sequencing the receptor gene is how those mutations are identified.
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
Decoding the Mysteries of Fanconi Anemia, Complementation Group M
FANCM belongs to the FA core complex that monoubiquitinates FANCD2; chromosome breakage analysis with sequencing pins the complementation group down.
Unlocking the Mysteries of Fatal Infantile Mitochondrial Cardiomyopathy
Defects in the mitochondrial respiratory chain cut ATP production, bringing hypertrophic cardiomyopathy, weakness and optic atrophy; ATP6, ATP8 and OPA1 feature.
Decoding Fibrinogen Milano XII: Understanding, Diagnosing, and Using Genetic Testing for Digenic Disorders
Two genes, FGA and FGB, are involved in Fibrinogen Milano XII; clotting assays plus targeted or exome sequencing confirm the diagnosis and support prenatal testing.
Decreased FMO3 Activity: Drug Metabolism and Odor
FMO3 breaks down drugs and other compounds; when variants lower its activity, trimethylamine builds up as a fishy odor and drug clearance can change.
Decoding the Mystery: Generalized Epilepsy with Febrile Seizures Plus Type 5
Discover the role of genetic testing in diagnosing and managing Generalized Epilepsy with Febrile Seizures Plus Type 5, guiding treatment, and supporting family planning.
Decoding Gestational Diabetes Mellitus: Understanding, Diagnosing, and Genetic Testing
Raised blood sugar in pregnancy is screened with an oral glucose tolerance test at 24 to 28 weeks, while MTNR1B variants mark women at higher risk of GDM.
Glaucoma 1, Open Angle, B: ABCA1 and GAS7 Variants
Family screening found glaucoma in 8.2% of first-degree relatives, and ABCA1 and GAS7 variants show an additive effect on primary open-angle glaucoma risk.