Unlocking the Mysteries of Adult-Onset Glycogen Storage Disease II
Late-onset Pompe disease brings muscle weakness, walking difficulty and breathing problems; GAA gene results help predict severity and shape enzyme replacement therapy.
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
Unlocking the Mysteries of Glycogen Storage Disease IV: Understanding, Diagnosing, and Using Genetic Testing
Subtypes of GSD IV range from progressive liver disease to combined liver and muscle involvement; nine novel GBE1 mutations and IVF-PGD options are covered.
Decoding the Complexities of Glycogen Storage Disease IV: Nonprogressive Hepatic
Liver involvement stays stable in this GSD IV form, which still stems from GBE1 mutations; sequencing supports pre-symptomatic diagnosis and genetic counseling.
GM2-Gangliosidosis: Subtypes, Genes and Carrier Testing
Harmful GM2 gangliosides build up in the brain, bringing muscle weakness, movement problems and intellectual disability. Subtypes include Tay-Sachs disease.
Understanding Gyrate Atrophy of Choroid and Retina with Pyridoxine-Responsive Ornithinemia
Vision loss that starts in early childhood, raised ornithine and OAT mutations define gyrate atrophy; carrier, prenatal and preimplantation testing are options.
Unlocking the Secrets of Hair Morphology 1: Hair Thickness and Genetic Testing
Discover the genetic basis of hair thickness, how genetic testing can diagnose hair morphology 1, and its benefits for personalized hair care and research.
Sandhoff Disease: HEXB Mutations and HexB Deficiency
Too little hexosaminidase B lets GM2 gangliosides build up in the brain. Infantile, juvenile and adult forms differ in onset, and carrier screening is available.
Decoding the Mysteries of Hirschsprung Disease-Intellectual Disability Syndrome: A Guide to Understanding, Diagnosing, and Genetic Testing
Combining aganglionic bowel with limits in intellectual functioning, this rare syndrome is assessed with rectal biopsy, barium enema and molecular genetic testing.