Revealing the Genetic Roots: Understanding Rett Syndrome, Congenital Variant
Present from birth and mainly affecting girls, this variant brings hypotonia, microcephaly and stereotypic hand movements; FOXG1 mutations are a known cause.
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
Reynolds Syndrome: PBC, Scleroderma and Genetic Testing
Primary biliary cholangitis and scleroderma occur together in Reynolds syndrome. The page sets out what is known about its genetic component and how testing is used.
RTPS2 and SMARCA4: Tumor Risk and Surveillance
Rhabdoid tumor predisposition syndrome 2 involves SMARCA4, a chromatin remodeling gene. Imaging surveillance and family decisions follow a genetic diagnosis.
RTPS2 in Young Children: Carrier Testing and Monitoring
SMARCA4 carriers in an affected family can be found before any tumor appears, so MRI or CT monitoring is scheduled around each person's own level of risk.
Revealing the Mysteries of RIN2 Syndrome: How Genetic Testing Can Illuminate the Path Forward
Macrocephaly, alopecia, cutis laxa and scoliosis form the MACS pattern caused by mutations in RIN2, which are inherited in an autosomal recessive manner.
SMMD: Skeletal Signs and the Nkx3.2 Gene
Short stature, spinal deformities and joint problems follow abnormal bone growth in SMMD; zebrafish work on the Nkx3.2 gene points to a role in cartilage cells.
Median Nerve Mononeuropathy: Genetic Susceptibility
Numbness, tingling and hand weakness arise when the median nerve is compressed at the wrist; the page weighs how genetic markers may add to repetitive-strain risk.
Syndromic Multisystem Autoimmune Disease Due to ITCH Deficiency: A Genetic Exploration
Encoding an E3 ubiquitin-protein ligase, the ITCH gene keeps immune responses in check; its loss brings chronic inflammation, rashes and recurrent infections.