Decoding the Mystery of Leber Congenital Amaurosis 18: Genetic Testing and its Applications
CCT2 mutations sit behind LCA18, and clinical exome sequencing or a low-cost smMIPs panel with a 56% diagnostic yield can find them.
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
Decoding the Mysteries of Digenic Long QT Syndrome 1/2: Genetic Testing and Diagnosis
Changes in two genes at once lengthen the QT interval and raise the chance of torsades de pointes; NGS panels and drug-metabolism variants are also discussed.
Genetic Testing for Long QT Syndrome 2: What It Shows
Symptoms range from fainting spells to none at all, so KCNH2 sequencing is used to confirm LQTS2, with variants of uncertain significance among its limits.
Decoding the Genetic Puzzle of Long QT Syndrome 2/5: A Comprehensive Guide
Because two genes are involved, diagnosis runs from ECG and Holter monitoring to broader gene analysis, with beta-blockers, ICDs and lifestyle steps for management.
LDL Cholesterol Level Locus 3: Genes and Therapies
Monogenic and polygenic influences both shape LDL-C, with the FADS1-miR-1908 pathway and PCSK9 variants among them; CAR-Treg work against modified LDL is described.
Decoding the Mystery: Understanding and Diagnosing Non-Specific Lung Disease
Inflammation and scarring of lung tissue cause breathlessness, cough and fatigue, with links to rheumatoid arthritis, cryobiopsy and genetic causes in children.
Decoding the Mysteries of Atypical Marfan Syndrome: Genetic Testing for Improved Understanding and Diagnosis
Cases falling outside the usual Marfan criteria are hard to spot; whole exome sequencing has confirmed FBN1 and pointed to TTN and POMT1 in atypical presentations.
Marfan Syndrome: Ghent Criteria and FBN1 Testing
Diagnosis rests on the revised Ghent criteria, echocardiography of the aortic root and FBN1 sequencing, which also supports family screening and prenatal testing.