Innovative Insights: Understanding Intellectual Disability, Autosomal Recessive 50
Novel variants tied to IDAR50 were reported in Iranian consanguineous families, where more than half of intellectual disability cases still have unknown causes.
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
Genetic Insights into Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
A larger than average head, low muscle tone and behavioral difficulties mark this syndrome; a novel PHF21A variant has clarified genotype-phenotype links.
Illuminating Intellectual Disability-Microcephaly-Strabismus-Behavioral Abnormalities Syndrome Through Genetic Testing
Smaller head size, misaligned eyes and behavioral changes overlap with other disorders, so IMSBAS is often missed. DNA testing can identify the mutation involved.
Illuminating Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma: The Role of Genetic Testing
Thickened skin on the palms and soles, with painful plantar blistering and little nail involvement, marks IFNEPPK; mutation testing confirms a rare inherited cause.
Journey Through Genetics: Understanding Joubert Syndrome 23
Faulty cilia from MKS3, CC2D2A or RPGRIP1L mutations cause neurological symptoms and, in COACH syndrome, congenital hepatic fibrosis that warrants liver checks.
Klippel-Feil Anomaly-Myopathy-Facial Dysmorphism Syndrome: Unlocking the Genetic Code
Fused cervical vertebrae limit neck movement, and muscle weakness and facial features such as a flat nasal bridge also occur; MYO18B variants are linked to KFS4.
LCCS6: Joint Contractures, Inheritance and Testing
Severe joint contractures, muscle wasting and prenatal onset mark this autosomal recessive syndrome; sequencing confirms it and guides family planning.
Unlocking the Mysteries of Lethal Congenital Contracture Syndrome 7: The Role of Genetic Testing
Fetal akinesia and severe contractures follow an autosomal recessive pattern, and whole exome sequencing or gene panels on fetal DNA can identify LCCS7 prenatally.