Insightful Investigations: Genetic Testing and Intermediate Severe Salla Disease
Mutations in SLC17A5 disrupt sialic acid transport, causing early onset developmental delay and neurological regression; genetic testing confirms the variant.
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
Illuminating Isolated Congenital Hypogonadotropic Hypogonadism: The Role of Genetic Testing
The hypothalamus fails to release enough GnRH, so puberty is delayed or absent and infertility follows; KISS1R is one gene implicated in normosmic ICH.
Junctional Epidermolysis Bullosa: Fragile Skin, Genes
Skin that blisters and tears easily comes from faults in the proteins anchoring skin layers, including ITGA6; testing guides diagnosis, care and family planning.
Juvenile Amyotrophic Lateral Sclerosis: Unraveling the Genetic Threads
Unlike the adult form, JALS begins in children and young adults; a sigma-1 receptor mutation has been reported, and testing informs counseling and treatment choices.
Juvenile Nasopharyngeal Angiofibroma: Diagnosis, Care
Mainly affecting adolescent boys, this benign nasopharyngeal tumor causes nasal blockage and nosebleeds; imaging, surgery and preoperative embolization are covered.
Juvenile Polyposis Syndrome: Navigating Genetic Testing for Early Intervention and Effective Management
Autosomal dominant inheritance means one altered copy of SMAD4 or BMPR1A is enough; testing confirms the diagnosis, sets surveillance and identifies at-risk relatives.
Kabuki Syndrome Features and the KMT2D Gene
Distinctive facial features, developmental delays and congenital anomalies mark Kabuki syndrome, and testing for KMT2D or KDM6A mutations can confirm the diagnosis.
Kleefstra Syndrome: Unveiling the Genetic Mysteries Behind a Point Mutation
Haploinsufficiency of EHMT1 on chromosome 9 underlies the intellectual disability, hypotonia, flat midface and protruding jaw seen in Kleefstra syndrome.