Cracking the Code: Genetic Testing for Charcot-Marie-Tooth Disease Type 2R
TRIM2 mutations impair proteins that peripheral nerves rely on, producing the weakness, atrophy and sensory loss in the limbs that characterize CMT2R.
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
Cholestasis, Progressive Familial Intrahepatic, 4: Unraveling the Genetic Threads of a Silent Liver Disorder
Impaired bile secretion damages the liver in PFIC4, a recessive disorder whose jaundice, severe itching and growth retardation begin in early childhood.
Colobomatous Microphthalmia-Rhizomelic Dysplasia Syndrome: Understanding the Role of Genetic Testing
Shortened proximal limbs, intellectual disability and eye anomalies define this rare syndrome; pinpointing the mutation behind colobomatous microphthalmia guides care.
Cracking the Code: Understanding Combined Immunodeficiency due to CD3gamma Deficiency
Partial lymphopenia and a reduced CD3 complex weaken T-cell receptor signaling; finding CD3G mutations confirms the diagnosis and opens the way to early treatment.
Cracking the Code: Understanding Combined Immunodeficiency Due to MALT1 Deficiency
A deficient MALT1 gene disrupts NF-kB signaling, leading to recurrent lung infections, bronchiectasis, gastrointestinal inflammation and growth problems.
OX40 Deficiency: T-Cell Defects and DNA Diagnosis
The OX40 gene supports T-cell activation and survival; a defect leaves the body open to infection. DNA testing confirms the diagnosis and guides treatment choices.
Complement Factor B Deficiency: Unraveling the Genetic Threads of a Rare Disorder
Factor B is a key protein of the complement system. In complement Factor B deficiency, the body's defense against certain bacteria and viruses is compromised.
Cracking the Code: Genetic Testing for Cone-rod Dystrophy 19
Prenatal testing can flag retinal dystrophies in utero, and for CORD19 it sits alongside counseling on inheritance, light sensitivity and falling visual acuity.