Unlocking the Genetic Mysteries of Rare Autism-Related Disorders
Inherited common variation accounts for 7.7% of risk variance in severe neurodevelopmental disorders. Rare structural variants and the CACNA1D gene are also implicated.
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
Renal Cortical Hyperechogenicity: Causes and Testing
Brighter-than-normal renal cortex on ultrasound can accompany tuberous sclerosis complex, Birt-Hogg-Dubé syndrome or Hashimoto's thyroiditis, which testing tells apart.
Renal Tubular Epithelial Cell Apoptosis: Key Molecules
Programmed death of kidney tubule cells drives tubular atrophy in chronic kidney disease and diabetic nephropathy, with NHE1, aldose reductase and SUCNR1 involved.
Microsatellite Repeat Number: Instability and Testing
Short tandem repeats of two to five base pairs sit throughout the genome, and unstable counts cause disease; Southern blot, PCR and in situ hybridization are compared.
Decoding the Mystery: Retinal Dystrophy and Microvillus Inclusion Disease
Biallelic STX3 loss-of-function variants were found in ten people with both conditions, alongside findings on NOTCH2NLC repeat expansion and RPGR-related retinopathy.
Decoding the Mysteries of Rhizomelic Dysplasia, Ain-Naz Type
Homozygous GNPNAT1 variants disturb growth plate chondrogenesis, shortening the humerus and femur. Testing distinguishes this form from other skeletal dysplasias.
Diagnosing RRM2B-Related Mitochondrial Disease in Adults
Muscle weakness and progressive external ophthalmoplegia arise when RRM2B, a gene needed for mitochondrial DNA synthesis, is mutated. The limits of testing are noted too.
Decoding Sandhoff Disease: Genetic Testing for Diagnosis and Management
Discover the role of genetic testing in diagnosing Sandhoff disease, a rare metabolic disorder, and how it aids in prenatal testing, carrier identification, and future treatments.