Leber Congenital Amaurosis 15: Lighting the Path with Genetic Testing
NMNAT1 keeps retinal photoreceptors working; mutations let those cells degenerate and sight is lost early. Counseling and testing are described.
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
Leber Congenital Amaurosis 6: RPGRIP1 Gene Changes
RPGRIP1 mutations disrupt retinal photoreceptors, bringing nystagmus, severe vision impairment and trouble seeing in low light from birth.
Leber Congenital Amaurosis 7: GUCY2D Gene Testing
GUCY2D is often implicated in this retinal dystrophy, which causes vision loss from birth; confirming the mutation guides counseling and trial access.
Linking Genetics to Hope: Understanding Leber Congenital Amaurosis 8
A novel CRB1 variant ties LCA8 to retinal damage present from birth. Testing, family planning and experimental CRISPR-Cas9 work are covered.
LEOPARD Syndrome 3: Unveiling the Genetic Mysteries Behind a Rare Disorder
Explore LEOPARD Syndrome 3, a rare genetic disorder, and discover how genetic testing aids in diagnosis, family planning, and personalized treatment strategies.
Long QT Syndrome 2: Unlocking the Mysteries Through Genetic Testing
Faulty potassium flow through the KCNH2 channel stretches the QT interval; the page sets out beta-blockers, defibrillators, relative screening and genetic counseling.
Long QT Syndrome 5: The Promise of Genetic Testing in Precision Medicine
Fainting or palpitations brought on by stress or exercise can signal LQT5, which traces to KCNE1 mutations; testing guides beta-blockers and lifestyle changes.
Long QT Syndrome 6: Unlocking the Mysteries with Genetic Testing
LQT6 traces to KCNE2 mutations that slow the heart's electrical recovery, lengthening the QT interval; testing identifies carriers before symptoms appear.