Tall Stature-Intellectual Disability-Facial Dysmorphism
Unusual height, intellectual challenges and distinctive facial features mark TSIDFD Syndrome, where research points to chromosomal duplications such as 10q21.1-q22.1.
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
HHT5: Telangiectasias, Bleeding and the ENG Gene Variant
Small dilated blood vessels on skin, mucous membranes and internal organs can bleed in HHT5; an ENG variant, c.360+1G>A, has been linked to the disorder.
Testicular Anomalies and Congenital Heart Disease: Unraveling the Genetic Threads
Undescended testes and structural defects can appear alongside congenital heart defects; mutations and chromosomal changes guide diagnosis, monitoring and counseling.
Triosephosphate Isomerase Deficiency: Understanding Genetic Testing's Role in Diagnosis and Management
An autosomal recessive block in glycolysis, TPI deficiency brings neuromuscular degeneration, anemia and developmental delays. Carrier screening is also covered.
Van Maldergem Syndrome 2: Unveiling the Genetic Mysteries of a Rare Disorder
Expanded carrier screening found a novel pathogenic FAT4 variant behind VMS2, a rare disorder with craniofacial, intellectual and skeletal involvement.
Vasculitis Due to ADA2 Deficiency: Understanding the Role of Genetic Testing
CECR1 mutations cut the ADA2 enzyme that protects blood vessels, causing systemic inflammation, recurrent strokes, neuropathy and mild immunodeficiency.
Warburg Micro Syndrome 4: Unraveling the Genetic Threads of a Rare Disorder
Developmental delay, microcephaly and cataracts mark Warburg Micro Syndrome 4; a RAB3GAP1 variant and a chromosome 3q29 duplication have been reported in it.
Adams-Oliver Syndrome 4, a Rare Scalp and Limb Disorder
Congenital scalp defects and limb abnormalities mark Adams-Oliver syndrome 4, one of the less understood subtypes; a new ARHGAP31 variant supports earlier diagnosis.