Unraveling the Mysteries of Cerebellar Ataxia, Cataract, and Diabetes Mellitus
Progressive ataxia, early-onset cataracts and diabetes define this rare multisystem disorder, assessed with blood tests, eye exams, MRI and genetic analysis.
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
Unlocking the Mysteries of PRNP-Related Cerebral Amyloid Angiopathy
Amyloid collecting in brain vessel walls can cause bleeding and inflammation; MRI, PET imaging and PRNP analysis help identify this subtype and at-risk relatives.
CFHR5 Deficiency: Links to TTP, aHUS and Testing
When the CFHR5 gene is altered, complement regulation falters and TTP or aHUS may follow; DNA analysis can confirm the deficiency, with cost and availability as limits.
Shedding Light on Charcot-Marie-Tooth Disease Type 4B2 and Early-Onset Glaucoma
Severe sensorimotor neuropathy in early childhood, early-onset glaucoma and slowed nerve conduction mark CMT type 4B2, caused by MTMR13 mutations.
Unlocking the Mysteries of Childhood Myocerebrohepatopathy Spectrum: Genetic Testing for Diagnosis and Management
Mitochondrial energy production fails in CMHS when nuclear respiratory-chain genes are mutated, bringing muscle weakness, seizures and liver disease.
When Colchicine Fails in Familial Mediterranean Fever
Familial Mediterranean fever attacks that persist despite six months of adequate colchicine signal resistance; predictors, genetic testing and IL-1 inhibitors follow.
Decoding Early-Onset Colorectal Cancer: Genetic Testing for Better Understanding and Diagnosis
Cases before age 50 are rising, with heredity, environment and lifestyle each playing a part. Testing for Lynch syndrome guides screening, treatment and family follow-up.
Colorectal Cancer Susceptibility: PRKDC, PLCE1, IRF1
Polymorphisms in the DNA-repair genes PRKDC, XPD and XRCC1, changes in PLCE1, and loss of IRF1 have each been tied to higher colorectal cancer risk in published work.