Amplifying Awareness: Understanding Autosomal Dominant Nonsyndromic Hearing Loss 56
Sound travels through the tectorial membrane, which a CEACAM16 missense variant disturbs in ADNSHL 56. Families with a history can be tested before symptoms.
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
Autosomal Recessive Nonsyndromic Hearing Loss 101: Unveiling the Genetic Mysteries
When a person inherits two mutated gene copies, one from each parent, autosomal recessive hearing loss with no other symptoms can result; PKHD1L1 is one cause.
Auditory Anomalies: Understanding Autosomal Recessive Nonsyndromic Hearing Loss 76 through Genetic Testing
Without genetic insight ARNSHL76 is hard to tell apart from other hearing loss; sequencing PKHD1L1 can confirm it, supported by work in mice and zebrafish.
Autosomal Recessive Primary Immunodeficiency: NK Cells
Natural killer cells lose the ability to destroy infected and cancerous cells in this inherited disorder. Testing pinpoints the mutation and guides treatment.
Autosomal Recessive Spinocerebellar Ataxia 15: Navigating Genetic Testing for a Rare Condition
Faults in ITPR1, the gene for a calcium-signaling receptor in neurons, produce the balance, coordination and speech problems that define SCAR15.
Breaking Down Basal Ganglia Calcification, Idiopathic, 5: The Role of Genetic Testing
A case report of a middle-aged man with obsessive-compulsive symptoms shows why IBGC5 belongs in psychiatric evaluations, and where DNA testing fits alongside imaging.
Breaking Through the Genetic Code: Understanding Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
NR2F1 guides brain development, and its mutations cause BBSOAS, with visual impairment and neurodevelopmental delays. Sequencing the gene can find the variant.
Candidiasis, Familial, 8: Inheritance and Testing
An autosomal dominant disorder, CF8 brings lasting Candida infections of the skin, nails and mucous membranes, and gene testing can confirm a clinical diagnosis.