IDAR44: Precise Diagnosis and Genetic Counseling
Communication, social participation and independent living are affected in IDAR44. Identifying the exact mutation separates it from other intellectual disabilities.
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 Insights: Genetic Testing for Intellectual Disability, Autosomal Recessive 45
Developmental delay and varying degrees of intellectual impairment define IDAR45, which needs an altered copy of the gene from each parent to appear.
IDAR46: Cognitive Symptoms, Inheritance and DNA Testing
Cognitive impairment in IDAR46 varies in severity and follows a recessive pattern with unaffected carrier parents. Counseling helps families interpret test results.
Insight into Intellectual Disability, Autosomal Recessive 47: Unraveling the Genetic Threads
A novel mutation in the FMN2 gene has been identified as a cause of IDAR47, and confirming it supports early intervention, family planning and tailored care.
Juvenile-Onset Diabetes Mellitus-Central and Peripheral Neurodegeneration Syndrome: Unraveling the Genetic Threads
A homozygous DNAJC3 variant links early diabetes with progressive central and peripheral nerve degeneration; testing offers diagnostic clarity and guides counseling.
Kallikrein, Decreased Urinary Activity: Understanding the Role of Genetic Testing
Kallikrein activates kinins that widen blood vessels and increase sodium excretion, so reduced urinary activity is tied to higher blood pressure and renal complications.
Ketoacidosis due to Monocarboxylate Transporter-1 Deficiency: A Genetic Perspective
Recurrent episodes of ketoacidosis follow mutations in SLC16A1, and two novel variants were described in three Palestinian children with this metabolic disorder.
Leukoencephalopathy, Progressive, with Ovarian Failure: Unlocking the Mysteries with Genetic Testing
Neurological decline paired with premature ovarian failure points to AARS2, the gene for alanyl-tRNA synthetase 2; compound heterozygous variants have been reported.