Harnessing Genetic Testing for Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency
Without enough tetrahydrobiopterin, phenylalanine is not converted to tyrosine and builds up. Newborn screening, BH4 supplementation and diet are explained.
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
Idiopathic Camptocormia: Forward Trunk Bending and Genes
Forward bending of the trunk with no identified cause makes camptocormia hard to diagnose, and next-generation sequencing is being explored for hereditary factors.
Illuminating Immunodeficiency: Understanding Late Component Complement Deficiency
Defects late in the complement cascade raise susceptibility to encapsulated bacteria such as Neisseria meningitidis, managed with vaccines and antibiotics.
Illuminating Infantile Bilateral Striatal Necrosis: The Role of Genetic Testing in Diagnosis and Management
Degeneration of the striatum in infancy brings movement disorders and developmental delay; a case report links IBSN to ADAR1 mutations and Aicardi Goutières Syndrome.
Illuminating Infantile Myofibromatosis: The Role of Genetic Testing in Diagnosis and Management
Benign myofibromas grow in skin, muscle and bone, and mutations in PDGFRB and NOTCH3 were identified as the first genetic causes of the autosomal dominant form.
Isolated Anophthalmia-Microphthalmia Syndrome (IAMS)
Babies born with absent or unusually small eyes may face visual impairment; IAMS is described here alongside coloboma, prenatal detection and genetic counseling.
Illuminating Isolated Ectopia Lentis: The Role of Genetic Testing
Dislocation of the eye's lens can blur vision without the wider features of Marfan syndrome; FBN1 analysis helps separate the two and shapes monitoring plans.
Genetic Testing for Joubert Syndrome and Related Disorders: Journey to Understanding
Over 30 genes are implicated across JSRD, whose features include developmental delay, hypotonia and oculomotor apraxia; results guide kidney and liver checks.