ABeta Amyloidosis, Italian Type: Genetic Testing
Amyloid fibrils build up in tissues and organs when amyloid precursor proteins are processed abnormally; DNA analysis names the mutations involved.
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
ABetaA21G Amyloidosis: Heart Effects and Testing
Amyloid from an APP gene mutation deposits mainly in the heart, thickening and stiffening the muscle, which sets it apart from other cardiac amyloidosis.
Achromatopsia: Unveiling the Genetic Threads of a Colorless World
A rare cone cell disorder of the retina, achromatopsia causes loss of color vision, reduced acuity and light sensitivity, and is mostly autosomal recessive.
Activated PI3K-delta Syndrome: Unveiling the Genetic Blueprint for Better Management
Recurrent respiratory infections and autoimmunity can signal APDS, an immune disorder in which PIK3CD or PIK3R1 mutations leave the PI3K/mTOR pathway overactive.
Acute Megakaryoblastic Leukemia Without Down Syndrome: Unveiling the Role of Genetic Testing
Anemia, bleeding and frequent infections follow megakaryoblast overgrowth in AMKL without Down syndrome; GATA1, MPL and JAK2 findings shape prognosis.
Adrenoleukodystrophy: Unraveling the Genetic Threads of a Complex Disorder
Explore how genetic testing identifies mutations in Adrenoleukodystrophy, offering early diagnosis, personalized care, and family planning guidance for this rare disorder.
Aganglionic Megacolon: A Genetic Insight into Hirschsprung's Disease
Explore how genetic testing revolutionizes Hirschsprung's Disease diagnosis and management by identifying mutations, predicting severity, and personalizing treatment.
Advancing Awareness: Genetic Testing and Aicardi-Goutières Syndrome
Immune activation that mimics a viral infection causes developmental delay, spasticity and skin lesions, traced to TREX1, RNASEH2A-C, ADAR, SAMHD1 or IFIH1 mutations.