Galactosemia: Genetic Testing's Role in Managing a Metabolic Mystery
Raised galactose in a newborn blood test points to galactosemia, and GALT, GALK1 or GALE analysis shows which Leloir pathway enzyme is missing.
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
Genetic Insights into Gastric Adenocarcinoma and Proximal Polyposis of the Stomach
Numerous polyps in the upper stomach can progress to gastric adenocarcinoma in this autosomal dominant syndrome; testing identifies relatives who need endoscopy.
Glimpsing Gaucher Disease: The Role of Genetic Testing in Diagnosis and Management
Anemia, an enlarged spleen and bone pain can be mistaken for other illnesses; GBA gene analysis confirms Gaucher disease and can guide enzyme replacement dosing.
Genetic Gateways: Understanding GCGR-related Hyperglucagonemia through Genetic Testing
Changes in the glucagon receptor gene raise glucagon levels and can disturb metabolism; GCGR testing separates this rare condition from other metabolic disorders.
Genetic Insights into Generalized Epilepsy with Febrile Seizures Plus
Febrile seizures that persist or turn afebrile run in families with GEFS+, where mutations in SCN1A, SCN1B and GABRG2 are found, though not all are detectable.
Genetic Insights into Glioblastoma: A Pathway to Personalized Treatment
Profiling a tumor reveals the mutations driving its growth; research points to OGDH, whose inhibition alongside Bcl-xL blockade was synthetically lethal in cells.
Genetic Insights into Global Developmental Delay - Lung Cysts - Overgrowth - Wilms Tumor Syndrome
Children with this rare syndrome may show developmental delay, lung cysts, overgrowth and a predisposition to Wilms tumor, which genetic testing helps confirm.
Genomic Insights into Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Rare and hard to recognize, GDD-VAPCAT Syndrome pairs developmental delay with visual anomalies, progressive cerebellar atrophy and truncal hypotonia.