Genetic Testing: A Beacon of Hope for Autosomal Recessive Nonsyndromic Hearing Loss 103
Genetic and functional analyses confirmed PKHD1L1 mutations as a cause of ARNSHL103, hearing impairment that occurs without any accompanying syndromic features.
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
Addressing Autosomal Recessive Severe Congenital Neutropenia Due to JAGN1 Deficiency: A Genetic Testing Perspective
Low neutrophil counts from infancy leave the body open to bacterial infection. Sequencing the JAGN1 gene separates this form from other congenital neutropenias.
ARSCA17: Telling It Apart From Other Ataxias
Because symptoms overlap with other ataxias, a DNA result is often what distinguishes ARSCA17; testing limits and the psychological impact are also discussed.
SCAR18 Carrier Screening and Diagnostic Testing
Carrier screening matters here: two carriers face a 25% chance in each pregnancy of a child with SCAR18, a recessive ataxia affecting gait, balance and speech.
Breaking Ground with Genetic Testing: Understanding Bardet-Biedl Syndrome 10
Reported in a Pakistani family, a homozygous 10-nucleotide deletion in BBS10 sits behind obesity, retinal degeneration, polydactyly and renal abnormalities.
Breaking Barriers: Bardet-Biedl Syndrome 11 and the Role of Genetic Testing
Vision loss, obesity, kidney abnormalities and extra fingers or toes appear in this ciliopathy, which DNA analysis can identify before symptoms are obvious.
Breaking Down Bardet-Biedl Syndrome 12: The Role of Genetic Testing
The BBS12 gene contributes a protein to the BBSome complex that cilia depend on; recessive inheritance and reproductive options such as PGD are set out here.
Bardet-Biedl Syndrome 13: Genetic Testing's Role in Rare Disease Diagnosis
Retinal dystrophy, obesity, polydactyly and renal abnormalities led to a diagnosis in a 13-year-old Syrian patient, where BBS13 testing settled an unclear picture.