Acid Alpha-Glucosidase Allele 2 and Pompe Disease
The GAA 2 allele binds glycogen less readily and contributes to late-onset Pompe disease; variant identification and carrier testing are described.
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 Secrets of Acquired Immunodeficiency Syndrome: Genetic Testing for Slow Progression
A deletion allele of the CKR5 gene has been found to restrict HIV-1 infection and delay progression, alongside opportunistic infection risk and treatment planning.
Decoding the Enigma of Adrenocortical Tumors: Understanding, Diagnosing, and Harnessing Genetic Testing
Tumors of the adrenal cortex may be benign or cancerous, and some flood the body with cortisol; PRKAR1A mutations and Wnt/β-catenin signaling inform prognosis.
Unlocking the Mysteries of Familial Alzheimer's Disease with Spastic Paraparesis and Apraxia
Memory loss appears alongside muscle stiffness, speech difficulty and problems with motor planning; PSEN1 variants such as L424V and N135S are reported in families.
Familial Alzheimer Disease 3: PSEN1 and Unusual Plaques
Autosomal dominant inheritance gives each child of an affected parent a 50% chance; PSEN1 mutations disturb gamma-secretase, and unusual plaques form in the brain.
Decoding the Enigma of Amyotrophic Lateral Sclerosis: Genetic Testing for Susceptibility and Diagnosis
Discover the role of genetic testing in ALS susceptibility and diagnosis, its benefits and limitations, and how it advances our understanding of this complex disease.
Decoding the Enigma: Understanding and Diagnosing Ascending Aortic Dissection Through Genetic Testing
Marfan, vascular Ehlers-Danlos, Loeys-Dietz and Turner syndromes raise the risk of an ascending aortic tear, and gene testing guides monitoring and screening.
Decoding Asthma: Understanding, Diagnosing, and Genetic Testing for Protection
Genetic predisposition, allergens, air pollution, early microbial exposure and interferon responses all shape asthma risk, with TIM-1 one of the studied genes.