Decoding the Enigma of Dysalbuminemic Hyperthyroxinemia: A Comprehensive Guide
Altered albumin from ALB mutations such as R222I, R218S and R218H binds thyroid hormone too tightly, so free T4 reads high while TSH and symptoms stay normal.
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
Decoding Hypertyrosinemia: Understanding, Diagnosing, and Utilizing Genetic Testing
Elevated blood tyrosine may stem from mutations in tyrosine breakdown genes or from liver disease and medicines, and tests tell the causes apart.
Immunodeficiency 37: Unraveling the Genetic Mysteries of a Rare Immune Disorder
Also called RAG deficiency, this disorder involves low NKT and CD8+ T cells, Toxoplasma chorioretinitis, and RAG1 or RAG2 mutations found on sequencing panels.
Increased Muscle Glycogen Content: Diagnosis and Genes
Muscle biopsy, imaging and blood tests are used when skeletal muscle stores abnormally high glycogen, and gene variants such as PHKG1 have been linked to the trait.
Decoding Infantile Nystagmus: Understanding, Diagnosing, and Harnessing Genetic Testing
Involuntary eye movements with foveal hypoplasia have been traced to SLC38A8 and PAX6, and targeted next-generation sequencing can provide a molecular diagnosis.
Deciphering the Enigma: Understanding, Diagnosing, and Using Genetic Testing for Inner Ear Malformation
Structural abnormalities of the inner ear can affect hearing and balance; CT and MRI define the malformation, while genetic testing may point to the cause.
Unlocking the Mysteries of Invasive Pneumococcal Disease: Diagnosis, Protection, and Genetic Testing
Discover how genetic testing aids in diagnosing invasive pneumococcal disease, optimizing vaccine schedules, and protecting vulnerable populations from this serious illness.
Decoding the Mysteries of Left-Right Axis Malformations: Understanding, Diagnosing, and Using Genetic Testing
Organs settle on the wrong side in situs inversus and heterotaxy. X-rays, ultrasound and MRI show the arrangement; testing points to inheritance.