TAP1 Deficiency: Somatic Mutations and Immune Effects
The TAP1 protein helps the immune system present antigens; when the gene is mutated, recurrent infections and autoimmune problems can follow.
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
Leukocyte Telomere Length: TERT, TET2 and Disease Risk
Telomeres shorten as cells divide, and studies tie leukocyte telomere length to coronary artery disease, AMD, type 2 diabetes and Graves' disease.
Demystifying Atypical Teratoid Tumors: Decoding the Genetic Puzzle
AT/RT is a fast-growing tumor of the brain and spinal cord, most often diagnosed before age three; loss of the SMARCB1 gene serves as its diagnostic marker.
Cracking the Code: Understanding and Diagnosing X-Linked Intermittent Thrombocytopenia
Episodes of low platelets, easy bruising and prolonged bleeding stem from WAS gene mutations affecting WASP; a blood smear and targeted sequencing help confirm it.
Sporadic Medullary Thyroid Carcinoma: RET and Calcitonin
Arising from parafollicular C cells, MTC makes up about 4% of thyroid cancers. Calcitonin measurement and RET testing support diagnosis and risk stratification.
Decoding Thyroxine-Binding Globulin Deficiency: A Comprehensive Guide
Usually symptom-free, TBG deficiency shows low T4, T3 and TBG alongside normal TSH. Serpina7 testing confirms the cause and supports genetic counseling.
Unlocking the Mystery of Trichotillomania: Genetic Testing for Better Understanding and Diagnosis
Discover the role of genetic testing in understanding trichotillomania, its potential in confirming diagnosis, identifying at-risk individuals, and guiding treatment.
Decoding TRPM4-Related Disorders: Genetic Testing and Its Applications
Changes in TRPM4, which regulates cellular calcium, can lead to seizures, cardiac arrhythmias and muscle weakness. Exome, gene panel and Sanger sequencing are compared.