Understanding Intellectual Developmental Disorder with Autism and Dysmorphic Facies
Diagnosis of IDDAF rests on developmental, neuropsychological and behavioral assessment, backed by chromosomal microarray, whole exome sequencing or gene panels.
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
Understanding Intellectual Developmental Disorder, Autosomal Dominant 71, with Behavioral Abnormalities
TRIP12 mutations cause IDDADD71, with intellectual disability, delayed speech, autistic-like behavior, ADHD, aggression and sleep disturbances among the reported signs.
Interferon Response Efficacy: IL28B Genetic Testing
SNPs in the IL28B gene are linked to sustained virologic response to peginterferon and ribavirin in hepatitis C; the page covers what testing can and cannot predict.
Unraveling the Mystery of Intestinal Dysmotility Syndrome: Genetic Testing and Beyond
Also called chronic intestinal pseudo-obstruction, this disorder brings abdominal pain, bloating, vomiting and malnutrition; genetic findings can support diagnosis.
Understanding Isolated Macular Dystrophy and the Role of Genetic Testing
Degeneration of the macula blurs central vision needed for reading and faces; OCT, fundus photography and ERG are used, with gene testing to separate the subtypes.
Ivacaftor/Lumacaftor in CF: Who the Drug Helps
Eligibility for this CFTR combination therapy depends on carrying at least one F508del mutation, found by genetic testing alongside sweat and IRT screening.
Ivacaftor and CFTR Mutations: Testing for Response
Ivacaftor improves CFTR protein function in people with the G551D mutation and some rarer variants. Genetic testing, sweat chloride tests and imaging are described.
Unraveling the Mysteries of Klippel-Trénaunay Syndrome
Capillary malformations, venous malformations and limb overgrowth define KTS, seen in about 1 in 100,000 people; targeted or whole-exome sequencing can examine PIK3CA.