Spotlighting Sifrim-Hitz-Weiss Syndrome: The Role of Genetic Testing in Diagnosis and Management
Explore the significance of genetic testing in diagnosing and managing Sifrim-Hitz-Weiss syndrome, a rare disorder linked to CHD4 gene mutations.
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
Sotos Syndrome 3: Unraveling the Genetic Threads of a Complex Condition
APC2 gene mutations cause this subtype of Sotos syndrome, and two reported cases also had congenital hypothyroidism, prompting advice for early thyroid testing.
Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity: Unraveling the Genetic Mysteries of SINO Syndrome
Spastic paraplegia, intellectual disability, nystagmus and obesity occur together in SINO syndrome, which research has tied to variants in the KIDINS220 gene.
Decoding Spermatogenic Failure 16: The Role of Genetic Testing in Understanding Male Infertility
No sperm reaches the ejaculate because production itself is impaired. Testing can name the mutation responsible for SPGF16, though some results remain inconclusive.
Spermatogenic Failure 17: Unraveling the Genetic Threads of Male Infertility
One study of primary male infertility named 17 known and 12 candidate genes for sperm production, the work behind exome-based testing for Spermatogenic Failure 17.
Spotlight on Spinocerebellar Ataxia, Autosomal Recessive 24: Genetic Testing's Role in Diagnosis and Management
Unsteady gait, poor hand-eye coordination and speech difficulty define SCAR24; DNA analysis separates it from other ataxias and identifies carriers in a family.
Striatonigral Degeneration in Children: Signs and Genes
Muscle stiffness, tremors and movement difficulty in a child can mimic other movement disorders; testing can confirm striatonigral degeneration and guide counseling.
Alcohol-Induced Sudden Cardiac Failure and PPA2 Variants
PPA2 gene mutations affect mitochondrial energy production in heart cells, and the page describes how alcohol can compound that risk and what testing may show.