STT3A-congenital Disorder of Glycosylation: Genetic Testing as a Gateway to Understanding
Changes in the STT3A gene disrupt N-linked glycosylation, producing developmental delays and metabolic problems; DNA testing can confirm the diagnosis.
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
STT3B-Congenital Disorder of Glycosylation: Unraveling the Genetic Threads of a Complex Condition
Whole-exome sequencing and gene panels can pinpoint the STT3B mutations behind STT3B-CDG, separating it from other glycosylation disorders that need different care.
Symphalangism, Proximal, 1B: Fused Finger Joints
Fusion of the proximal interphalangeal joints limits finger and toe movement in Symphalangism, Proximal, 1B; genetic testing can confirm an uncertain diagnosis.
TCF12-Related Craniosynostosis: Unlocking the Genetic Code to Better Diagnosis and Treatment
Mutations in TCF12 disturb cranial suture development, so skull bones fuse early, and large intragenic rearrangements can be missed by standard testing methods.
Tackling TCR-Alpha-Beta-Positive T-Cell Deficiency: Genetic Testing's Role in Diagnosis and Management
Recurrent infections, eczema, vitiligo and autoimmune hemolytic anemia mark this rare inherited immune disorder; DNA analysis helps separate it from similar conditions.
Urofacial Syndrome 2: Inheritance, Diagnosis and Counseling
Urinary incontinence paired with an unusual expression when smiling marks UFS2, an autosomal recessive disorder that DNA analysis can confirm early in life.
Mapping the Maze: Understanding 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-like Syndrome Through Genetic Testing
Hearing loss, encephalopathy and metabolic problems mark MEGDEL syndrome; SERAC1 mutations disturb mitochondrial function and testing confirms them.
Abdominal Obesity-Metabolic Syndrome 3 Risk Factors
Fat that gathers around the abdomen alongside insulin resistance, hypertension and dyslipidemia raises the risk of cardiovascular disease and type 2 diabetes.