Lesch-Nyhan Syndrome: HPRT1 Gene and Uric Acid
Reduced HGPRT activity from HPRT1 mutations lets purines build into uric acid crystals, with involuntary movements and self-injurious behavior.
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 the Mystery of Acute Myeloid Leukemia M0 Subtype: Genetic Testing for Diagnosis and Treatment
Minimally differentiated AML resists diagnosis by microscopy alone, so FISH, PCR and next-generation sequencing are used to find translocations and gene mutations.
Congenital Lipoprotein(a) Deficiency: LPA Gene Testing
Low levels of lipoprotein(a) in the blood mark this inherited disorder. Diagnosis rests on blood testing, with LPA gene analysis used for family screening.
Unlocking the Mysteries of Lissencephaly 4: A Comprehensive Guide to Genetic Testing
Seizures, intellectual disability and motor impairment follow this brain malformation; MRI and CT show the smooth cortex and targeted re-sequencing finds mutations.
Long QT Syndrome 3: SCN5A, ECG Findings and Testing
Sodium moving abnormally through channels built by SCN5A stretches the QT interval; testing confirms the diagnosis, screens relatives and aids forensic work.
Lower Limb Muscle Weakness: GAA, GMPPB and CAPN3
Difficulty walking, climbing stairs or keeping balance can signal a neuromuscular disorder; cases here involve GAA, GMPPB and CAPN3 variants found by genetic testing.
Major Depressive Disorder: Genes and Citalopram Response
Pharmacogenetics looks at why SSRIs such as citalopram work for some people and not others, and how DNA testing may guide MDD treatment choices.
Mephenytoin Poor Metabolism: CYP2C19*4 and Testing
Slow breakdown of the anticonvulsant mephenytoin is linked to the CYP2C19*4 allele, and test results inform drug choice and dosing alongside age and weight.