Auditory Anomalies: Understanding Autosomal Recessive Nonsyndromic Hearing Loss 98
A DNA test that detects PKHD1L1 mutations can identify ARNSHL 98 in newborns and young children, informing hearing devices, counseling and further 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
Advancements in Autosomal Recessive Spinocerebellar Ataxia 13: The Role of Genetic Testing
A newly reported GRM1 variant found in a Pakistani family widens what is known about SCAR13, a recessive ataxia affecting gait, hands, speech and eye movements.
Basal Cell Carcinoma Susceptibility 7: Genetic Risk
Sun exposure is not the only driver of this skin cancer, and a blood test or cheek swab can look for markers tied to inherited susceptibility.
Understanding Basal Ganglia Calcification, Idiopathic, 4: The Role of Genetic Testing
Calcium deposits in the basal ganglia can bring tremor, rigidity and psychiatric symptoms, and this autosomal dominant form carries a 50% chance of transmission.
Brachydactyly Type A1C: Why Fingers and Toes Are Short
Shortened fingers and toes in Brachydactyly Type A1C come from mutations affecting the phalanges. Genetic testing identifies the mutation and informs family planning.
Breaking Down Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency: The Role of Genetic Testing
Leucine, isoleucine and valine accumulate when a BCKDK gene mutation disrupts their breakdown, leading to developmental delays, neurological issues and weak muscles.
Cataract 39 Multiple Types: Diagnosis and Ethics
Rather than a single disease, Cataract 39 spans several subtypes with distinct mutations. Diagnosis, family counseling and the ethics of genetic data are addressed.
CPVT4 (RYR2 Gene): Genetic Testing and Diagnosis
Mutations in the RYR2 gene disturb calcium handling in heart muscle cells, producing the exercise- and stress-triggered arrhythmias that define CPVT4.