Intellectual Disability, Autosomal Dominant 15: Exome Tests
Symptoms of IDAD15 overlap with other intellectual disabilities, so whole exome sequencing is used to find the responsible variant and steer education and therapy.
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
Diagnosing Intellectual Disability, Autosomal Dominant 16
One altered gene copy is enough to disrupt neuronal development in ID16, and naming that mutation early opens the way to tailored schooling, therapy and counseling.
Diagnosing Intellectual Disability, Autosomal Recessive 27
Limits in intellectual functioning and adaptive behavior define IDAR27, in which both gene copies are mutated. Testing can be done prenatally or shortly after birth.
Illuminating Insights into Intellectual Disability, Autosomal Recessive 34: The Role of Genetic Testing
Inherited from both parents, IDAR34 affects learning, reasoning and problem-solving. Carrier testing and early diagnosis can guide tailored educational support.
Illuminating Intestinal Obstruction in Newborns: Understanding Guanylate Cyclase 2C Deficiency
When a baby's first stool blocks the bowel, meconium ileus may point to this autosomal recessive enzyme deficiency; DNA testing confirms it and guides counseling.
Intracerebral Hemorrhage: Unraveling the Genetic Threads
Bleeding inside brain tissue can run in families: whole-exome sequencing found monogenic causes in 20.5% of familial stroke cases, with high rates in ICH.
Joubert Syndrome 14: Navigating the Genetic Maze
Cilia gene mutations underlie JS14, and consanguinity raises the chance of inheriting them; variants of uncertain significance and counseling are also covered.
Joubert Syndrome 15: Unraveling the Genetic Threads of a Complex Condition
Heterozygous SUFU variants disturb Hedgehog signaling in brain development, producing the hypotonia, ocular motor apraxia and cerebellar anomalies described here.