Muscle Eye Brain Disease: Unraveling Mysteries Through Genetic Testing
Reduced muscle tone, developmental delays, vision problems and structural brain abnormalities follow faulty glycosylation of alpha-dystroglycan in children with MEB.
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
Myelodysplastic Syndrome: The Role of Genetic Testing in Diagnosis and Treatment
Ineffective blood cell production causes the anemia, neutropenia and thrombocytopenia of MDS, and mutation testing helps gauge the risk of progression to leukemia.
Myelodysplastic Syndrome with Ring Sideroblasts: Genetic Testing as a Diagnostic Beacon
Iron-laden erythroblasts and severe anemia mark myelodysplastic syndrome with ring sideroblasts, where an SF3B1 mutation often signals a more favorable prognosis.
Mysteries of Myeloproliferative Neoplasm, Unclassifiable: Unraveling the Genetic Code
Some myeloproliferative neoplasms do not fit existing categories; in MPN-U, testing for mutations such as JAK2, CALR and MPL helps separate it from other disorders.
Myofibrillar Myopathy: Unraveling the Mysteries of Muscle Disorders Through Genetic Testing
Progressive weakening of the skeletal muscles marks myofibrillar myopathy; the LDB3 variant c.1720G>A is linked to weakness, pain and sometimes cardiac complications.
Nemaline Myopathy: Unraveling the Genetic Threads of a Muscle Disorder
Low muscle tone, weakness and delayed motor development appear in infancy, with rod-shaped nemaline bodies in muscle fibers and, in one report, a TNNT1 variant.
Nephronophthisis: Navigating Genetic Testing in the Fight Against Renal Ciliopathy
Explore how genetic testing transforms Nephronophthisis care with early diagnosis, personalized treatment, and informed family planning for better outcomes.
Neuroendocrine Neoplasms: Genetic Testing and Treatment
Rare tumors of neuroendocrine cells in the small intestine, pancreas and lungs often secrete hormones; surgery, targeted therapy and gene profiling are covered.