Hyperthyroxinemia, Familial Dysalbuminemic: Decoding Genetic Testing for a Complex Condition
A mutation in the albumin gene raises its binding affinity for T4, so identifying changes like the newly reported R222I separates FDH from hyperthyroidism.
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
Harnessing Genetic Insights: Understanding Hypogonadotropic Hypogonadism 22 with or without Anosmia
Failure of the hypothalamus to make enough GnRH delays sexual development; with anosmia it is called Kallmann syndrome. SOX10 findings are covered.
Heralding Hope: Genetic Testing for Hypomyelinating Leukodystrophy 9
RARS1 changes disrupt protein synthesis and leave white matter short of myelin, giving developmental delay and motor impairment that worsen over time.
Harmonizing Health: Genetic Testing and Hypotrichosis 13
Hair thinning that begins in infancy and varies widely in severity defines Hypotrichosis 13; DNA testing confirms it and guides supportive treatment choices.
Immunodeficiency 36 Symptoms and Genetic Causes
Autoimmune disorders, repeated infections and greater cancer susceptibility mark IMD36; DNA analysis identifies the mutation involved and informs treatment decisions.
Inflammatory Skin and Bowel Disease, Neonatal, 2: NGS
Newborns with NISBD2 show diarrhea, skin rashes and failure to thrive, placing it among primary immunodeficiency diseases that next-generation sequencing can pinpoint.
Genetic Testing and Intellectual Disability, Autosomal Dominant 29: A Path to Informed Decisions
Found before birth, a SETBP1 variant can explain IDAD29; carrier testing and counseling help families weigh options such as IVF with preimplantation diagnosis.
Illuminating Insights: Understanding Intellectual Disability, Autosomal Dominant 30 Through Genetic Testing
Because clinical signs can be subtle or mimic other conditions, ID-AD 30 is often confirmed by whole exome sequencing, which also informs care and family planning.