Breaking Barriers: Genetic Testing and Bardet-Biedl Syndrome 14
Renal involvement in BBS14 can be severe enough to require pediatric transplantation; the recessive syndrome also brings retinal dystrophy and obesity.
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 with Bardet-Biedl Syndrome 15: The Role of Genetic Testing
Novel BBS2 variants and known MKKS variants found in Chinese families show how varied this recessive ciliopathy is, from retinal degeneration to kidney anomalies.
Breaking Barriers in Bardet-Biedl Syndrome 16: The Role of Genetic Testing
Consensus criteria now place more weight on DNA analysis for BBS16, alongside care spanning ophthalmology, nephrology, endocrinology and genetics.
Breaking Barriers in Bardet-Biedl Syndrome 17: The Role of Genetic Testing
LZTFL1 codes for a protein that cilia need, and two mutated copies produce obesity, intellectual disability, kidney dysfunction and retinal degeneration.
Breaking Barriers: Genetic Testing and Bardet-Biedl Syndrome 18
Because its symptoms overlap with other ciliopathies, BBS18 is often recognized late; DNA analysis pinpoints the mutations and rules out similar conditions.
Bardet-Biedl Syndrome 19: Bridging Barriers with Genetic Testing
Obesity and vision problems are often blamed on commoner causes first, as one case of a 19-year-old patient shows, delaying the multidisciplinary care BBS19 needs.
Bardet-Biedl Syndrome 2: Navigating the Genetic Landscape of a Complex Disorder
Cilia malfunction when the BBS2 gene is mutated, causing obesity, retinal degeneration, polydactyly and kidney abnormalities; cost still limits access to testing.
Breaking Barriers: Genetic Testing in Bardet-Biedl Syndrome 4
Disrupted cilia function underlies BBS4, a subtype confirmed through DNA analysis and followed with coordinated specialist monitoring over a patient's lifetime.