Decoding TRIT1 Deficiency: Understanding, Diagnosing, and Genetic Testing
Mutations in TRIT1 impair a mitochondrial tRNA enzyme, causing seizures, muscle weakness and developmental delays. Lactate tests and muscle biopsy are also covered.
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
VEGF Inhibitor Response: Why Patients React Differently
Drugs that block VEGF cut off the vessels feeding a tumor, yet results vary; polymorphisms in angiogenesis, drug metabolism and immune genes may predict benefit.
Understanding Virus-induced Diabetes
Discover the role of genetic testing in diagnosing and treating virus-induced diabetes, understanding genetic predisposition, and unlocking personalized medicine.
Warfarin Dosing: CYP2C9*2, CYP2C9*3 and VKORC1 Variants
INR monitoring shows when a patient sits outside the therapeutic range; CYP2C9*2, CYP2C9*3 and the VKORC1 -1639G>A variant help predict the dose they need.
Warfarin Toxicity and Adverse Reactions: Genetic Factors
Some people carry genetic variations that raise their risk of warfarin toxicity; this page covers how testing informs starting dose, monitoring and patient education.
Wee1 Inhibitor Response: TP53, CDKN2A and MYC Markers
By blocking a kinase that regulates cell division, Wee1 inhibitors can slow tumor growth; TP53 mutations, CDKN2A alterations and MYC amplification may predict response.
Understanding Bone Mineral Density Variation
DXA scans and bone turnover markers measure bone density, while variants in genes such as VDR, RANKL and OPG help explain why it varies between people.
Understanding, Diagnosing, and Using Genetic Testing for BRCA2-Related Disorders
The BRCA2 gene helps repair damaged DNA, and mutations in it are linked to hereditary breast and ovarian cancer, Fanconi anemia, pancreatic and prostate cancer.