Hopeful Horizons: Genetic Testing for Hypotonia-Failure to Thrive-Microcephaly Syndrome
Feeding difficulties and developmental delay often accompany the hypotonia, poor growth and microcephaly of this syndrome, which is linked to ASXL3 mutations.
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
ICF2 Syndrome: ZBTB24 Mutations and Genetic Testing
Chromatin remodeling falters when ZBTB24 is mutated, producing the immunodeficiency, centromeric instability and facial anomalies that define ICF2.
Illuminating Insomnia: Unraveling Genetic Testing for Better Sleep
Explore how genetic testing can identify insomnia risk factors, personalize treatments, and enhance drug efficacy, paving the way for improved sleep solutions.
Diagnosing Intellectual Disability, Autosomal Dominant 10
Targeted next-generation sequencing found a genetic cause in 29% of Korean patients with developmental delay, and a single altered gene copy causes ID-AD 10.
Signs of Intellectual Disability, Autosomal Dominant 11
Delayed speech, slower motor development and behavioral difficulties mark ID-AD 11, an autosomal dominant condition one altered gene copy is enough to cause.
Illuminating the Path: Genetic Testing for Intellectual Disability, Autosomal Dominant 2
De novo CHAMP1 changes account for IDAD2, and a case report in a 6-month-old boy shows how early testing explains developmental delay and guides support.
Innovative Insights into Intellectual Disability, Autosomal Dominant 6: The Role of Genetic Testing
Whole exome sequencing has turned up novel ZBTB18 variants in IDAD6, a rare disorder where limited data still makes standard treatment protocols hard to set.
Identifying Intellectual Disability, Autosomal Dominant 8 Through Genetic Testing
Two routes are compared for IDAD8: whole exome sequencing across all protein-coding regions, and targeted panels covering genes such as ZBTB18.