Understanding Breast-Ovarian Cancer, Familial, Susceptibility to, 3
Two novel 3'UTR variants have been tied to this inherited syndrome, and testing supports risk assessment, tailored mammogram or MRI screening, and testing of relatives.
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
Breaking Barriers: Genetic Testing in Bronchiectasis with or without Elevated Sweat Chloride 2
The CFTR gene regulates sweat, mucus and digestive fluids, so finding a mutation separates this form of bronchiectasis from other causes and points to CFTR modulators.
Breaking Ground: Genetic Testing in Bronchiectasis with or without Elevated Sweat Chloride 3
Chronic lung infections, cough and mucus make this condition hard to tell from cystic fibrosis; identifying the mutation supports tailored care and carrier testing.
Brugada Syndrome 6: Unveiling the Genetic Underpinnings of a Cardiac Enigma
A rare noncoding enhancer variant affects SCN5A expression and sodium current, helping explain why this subtype is common in Thailand and how relatives are screened.
Brugada Syndrome 7: Bridging Genetics and Heart Health
Channelopathies affecting cardiac ion channels underlie this subtype, and newly mapped loci shared across Japanese and European populations inform screening.
Braving Brugada Syndrome 8: The Role of Genetic Testing
Palpitations, fainting or cardiac arrest during rest or sleep can signal this cardiac channelopathy, where fever, some medicines and electrolyte shifts act as triggers.
Cerebellar Ataxia, Intellectual Disability, and Dysequilibrium Syndrome 3: Unraveling the Genetic Threads
Cerebellar development depends on the VLDLR gene, and a mutation there produces the ataxia, intellectual disability and balance difficulty seen in CAIDDS3.
Cracking the Code: Understanding Cerebral Folate Transport Deficiency
Folate cannot reach the brain when folate receptor alpha is defective, causing developmental delay, motor problems and seizures; folinic acid bypasses that transport.