ALS-FTD Overlap: TBK1, C9orf72 and FUS Genetics
Partial loss of TBK1 function links two overlapping neurodegenerative disorders, alongside C9orf72 and FUS findings, autophagy and RNA homeostasis research.
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
Angiotensin I-Converting Enzyme: Benign Serum Increase
Increased shedding from a point mutation in the ACE stalk region raises serum levels without clinical abnormality; ACE I/D polymorphism is also covered.
Antidepressant Drug Response: CYP2B6 and Genetics
Variants in genes such as CYP2B6 change how quickly antidepressants are metabolised, which bears on dosing, side-effect risk and how soon a treatment works.
Decoding Aortic Valve Disease 2: Genetic Testing for Better Understanding and Diagnosis
Abnormalities of the aortic valve lead to stenosis or regurgitation in AVD2, which research has associated with genetic variation in human primary cilia.
Apocrine Gland Secretion Variation: Sweat and Genes
Differences in the amount and composition of sweat can cause body odor, and pedigree analysis of osmidrosis found autosomal dominant patterns in 60% of families.
Decoding the Mysteries of Type 1a Autoimmune Lymphoproliferative Syndrome
Faulty Fas-induced apoptosis lets lymphocytes accumulate, causing enlarged lymph nodes, autoimmune cytopenias and raised double-negative T cell counts.
Deciphering the Enigma of Autoimmune Lymphoproliferative Syndrome Type 1b: Genetic Testing Unlocks the Mystery
Overproduced lymphocytes enlarge the lymph nodes, spleen and liver. Deep amplicon sequencing can pick up somatic FAS variants when the picture is atypical.
Understanding Bartter Disease Type 3: Diagnosis and Genetic Testing
Low blood potassium, excessive thirst and poor growth point to this kidney disorder, which follows recessive CLCNKB mutations that genetic testing can confirm.