Genetic Testing for Autosomal Dominant Keratitis-Ichthyosis-Hearing Loss Syndrome
GJB2 changes alter connexin 26, bringing corneal inflammation, scaly skin and hearing loss together. Testing can confirm ADKIHLS before all symptoms appear.
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 Understanding Autosomal Dominant Progressive External Ophthalmoplegia Through Genetic Testing
Weakness of the eye muscles worsens in adPEO as mitochondrial DNA deletions accumulate. POLG, SLC25A4 and C10orf2 are among the nuclear genes implicated.
Bannayan-Riley-Ruvalcaba Syndrome: Genetic Insights and Advances
Macrocephaly, hamartomatous intestinal polyps and lipomas mark this PTEN hamartoma tumor syndrome, where PTEN testing confirms the diagnosis and shapes screening.
Breaking Down Beaded Hair: Understanding Monilethrix Through Genetic Testing
Uncover the genetic roots of monilethrix, a rare beaded hair disorder, with genetic testing. Learn about early diagnosis, family planning, and potential therapies.
Breaking Down Benign Concentric Annular Macular Dystrophy: The Role of Genetic Testing
Concentric rings around the macula disturb reading and face recognition in adulthood, and a rare PRPH2 variant, c.582-1G>A, was reported in two related cases.
Breaking Down Bernard-Soulier Syndrome, Type A2, Autosomal Dominant: The Role of Genetic Testing
One altered copy of the gene is enough to cause this platelet adhesion disorder, and DNA testing separates it from look-alikes such as immune thrombocytopenic purpura.
Bethlem Myopathy: Unlocking Mysteries with Genetic Testing
Explore how genetic testing aids in diagnosing Bethlem myopathy, ensures personalized care, supports family planning, and drives research for future therapies.
Cardiospondylocarpofacial Syndrome: Deciphering the Genetic Code
CSCF affects the heart, skeleton and facial features. Research links the TAK1 gene to heart development, and genetic testing supports diagnosis and family planning.