Intellectual Disability, Autosomal Dominant 9: Exome Testing
A single altered copy of the responsible gene causes ID-AD9. Whole exome sequencing can pinpoint rare variants, confirming the diagnosis and guiding genetic counseling.
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
Illuminating the Path: Genetic Testing for Intellectual Disability, Autosomal Recessive 14
Mutations in the TRAPPC9 gene, which supports normal brain development, underlie IDAR14. Testing confirms the diagnosis and separates it from similar disorders.
Illuminating Intellectual Disability: Understanding Autosomal Recessive 18 through Genetic Testing
Both parents typically carry one copy of the altered gene without showing symptoms. Carrier screening, early diagnosis and tailored support are explained for IDAR18.
Joubert Syndrome 13: Unraveling the Genetic Threads of a Complex Condition
CEP290 changes disrupt cilia signaling, leading to developmental delays, hypotonia, eye movement problems and sometimes kidney or liver dysfunction.
Keppen-Lubinsky Syndrome: The Genetic Key to Unlocking Mysteries
A de novo KCNJ6 mutation was reported in a child with Keppen-Lubinsky syndrome, which combines a narrow face, prominent nose and intellectual challenges.
Unlocking Answers: Genetic Testing for LAMB2-related Infantile-Onset Nephrotic Syndrome
Swelling, protein in the urine and sometimes ocular defects appear in the first year while psychomotor development stays normal; LAMB2 mutations affect laminin beta-2.
Leber Congenital Amaurosis 16: Illuminating the Path to Genetic Insights
CEP290 changes accounted for roughly 21% of cases in a study of 76 patients with LCA, and identifying the mutation shapes care and counseling.
Unlocking the Mysteries of Leukocyte Adhesion Deficiency Through Genetic Testing
Explore how genetic testing revolutionizes the diagnosis and management of leukocyte adhesion deficiency, offering early detection, tailored treatments, and family planning.