TMEM165-Congenital Disorder of Glycosylation: Unraveling the Genetic Threads
Sugars are not attached properly to proteins and lipids in this rare disorder, which can bring developmental delay and neurological problems. TMEM165 testing confirms it.
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
Targeting Transient Infantile Hypertriglyceridemia and Hepatosteatosis: The Role of Genetic Testing
A rare liver disorder that raises triglyceride levels and causes fatty liver in infants, linked to a GPD1 gene mutation. Hypoglycemia risk and dietary care are covered.
Tracing Trichohepatoenteric Syndrome 2: The Role of Genetic Testing in Diagnosis and Management
Chronic diarrhea, liver dysfunction and hair abnormalities mark THES2, an autosomal recessive condition tied to SKIV2L. Carrier testing and management are outlined.
Trigonocephaly 2: FGFR1, FGFR2 and TWIST1 Variants
Craniosynostosis genes FGFR1, FGFR2 and TWIST1 are examined in this cranial deformity, alongside early surgical correction and counseling on recurrence risk.
Unveiling Usher Syndrome Type 3B: The Role of Genetic Testing in Diagnosis and Management
CLRN1 mutations drive progressive vision and hearing loss that often starts later in life; a novel variant in a Chinese family shows why transcript analysis matters.
Unveiling the Mysteries: Genetic Testing for UV-Sensitive Syndrome 2
Extreme sun sensitivity, freckling and raised skin cancer risk follow faulty DNA repair; CSA testing tells it apart from xeroderma pigmentosum and Cockayne syndrome.
Understanding UV-Sensitive Syndrome 3: Genetic Testing's Role in Diagnosis and Management
Defective repair of UV-induced DNA damage causes UVSS3. CSA also answers oxidative DNA damage, and finding its mutation supports early, tailored management.
Vigilant Ventures: Genetic Testing and Ventricular Septal Defect 1
A hole between the heart's lower chambers lets oxygen-rich and oxygen-poor blood mix; prenatal ultrasound and chromosomal analysis can pick up VSD1 early.