Mapping the Mysteries: Genetic Testing for Meckel-Gruber Syndrome
Genetic testing aids in diagnosing Meckel-Gruber Syndrome, revealing genetic mutations, informing family planning, and guiding research for potential therapies.
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
Methylcrotonyl-CoA Carboxylase Deficiency: Genetic Testing as a Guiding Light
Low activity of the enzyme that breaks down leucine allows toxic by-products to build up, causing feeding problems and lethargy. Newborn screening can catch MCCD early.
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type: Unraveling the Genetic Mysteries
Microcephaly with skeletal abnormalities points to Saul-Wilson type. DNA analysis can confirm the diagnosis and support carrier and prenatal testing for families.
Morquio Syndrome: Unraveling the Genetic Mysteries to Manage the Malady
Enzyme deficiency lets glycosaminoglycans collect in the body, producing the skeletal and joint problems of Morquio A and B; testing can guide enzyme replacement therapy.
Mapping the Mysteries of Mucopolysaccharidosis: The Role of Genetic Testing
Glycosaminoglycans build up when particular enzymes are absent, affecting bones, vision, hearing and the heart; whole genome sequencing has revealed novel MPS variants.
Mapping Multiminicore Myopathy: Genetic Testing's Role in Unraveling the Mystery
Small disorganized minicores in muscle fibers and axial weakness characterize multiminicore myopathy; digenic SRPK3 and TTN inheritance is one reported cause.
Multiple Congenital Anomalies/Dysmorphic Syndrome: Unveiling the Genetic Mysteries
When chromosomal analysis is normal, exome sequencing can still point to the cause of MCADS, which combines multiple birth defects with distinctive facial features.
Understanding Multiple Endocrine Neoplasia, Type 2: The Role of Genetic Testing
Medullary thyroid carcinoma, pheochromocytoma and parathyroid hyperplasia mark this autosomal dominant disorder; RET testing separates MEN 2A, MEN 2B and FMTC.