Subependymal Giant-Cell Astrocytoma: A Genetic Testing Perspective
Growing from the walls of the brain's ventricles, SEGA is often linked to tuberous sclerosis complex; TSC1 or TSC2 testing supports early detection and monitoring.
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
Systemic Mast Cell Disease: Unraveling the Genetic Code
Skin lesions, gastrointestinal symptoms and anaphylaxis can accompany the mast cell build-up in SMCD; STAT3 mutations affect degranulation and shape genetic testing.
Understanding Tay-Sachs Disease, B1 Variant: The Role of Genetic Testing
Partial beta-hexosaminidase A activity lets GM2 ganglioside build up in nerve cells; carrier screening, prenatal testing and PGD are options for families at risk.
Triphalangeal Thumb-Polysyndactyly Syndrome: Unraveling the Genetic Threads of a Rare Disorder
An extra thumb phalanx together with fused fingers and toes defines TPTPS. A ZRS variant reclassified as likely pathogenic, surgery and family planning are described.
Tumor of Meninges: Unraveling the Genetic Threads of Meningiomas
Meningiomas grow from the membranes around the brain and spinal cord and often carry NF2 mutations. Targeted treatment, family risk and open VEGF questions are covered.
Usher Syndrome Type 2: The PDZD7 Gene and Diagnosis
Moderate to severe hearing loss from birth with progressive vision loss marks type 2; deleting PDZD7 in cochlear hair cells caused hearing loss in mice.
Unveiling the Mysteries of Usher Syndrome Type 3: The Role of Genetic Testing
Symptoms may hold off until adolescence or adulthood, bringing gradual hearing loss, night blindness and peripheral vision loss linked to CLRN1 mutations.
Vitamin B12-responsive Methylmalonic Acidemia, Type cblDv2: Unraveling the Genetic Threads
Methylmalonic acid builds up when vitamin B12 metabolism is disrupted; naming the mutation guides dietary changes and the dose and form of B12 supplementation.