Understanding Hermansky-Pudlak Syndrome 9: A Genetic Perspective
Explore Hermansky-Pudlak Syndrome 9, a genetic disorder with distinct challenges. Genetic testing aids in early diagnosis, personalized treatment, and family planning.
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
Holoprosencephaly 11: Harnessing Genetic Testing for Better Diagnosis and Care
Incomplete division of the forebrain gives rise to facial differences, intellectual disability and seizures, with severity and inheritance patterns varying widely.
Harnessing Genetic Testing: A New Dawn for Recurrent Hydatidiform Mole
Repeat molar pregnancies have been linked to NLRP7 and KHDC3L mutations found by next-generation sequencing, which also supports embryo screening before implantation.
Hydrolethalus Syndrome 2: Signs and Prenatal Tests
Severe hydrocephalus, polydactyly and craniofacial anomalies mark this autosomal recessive disorder linked to HYLS1; carrier and prenatal screening options are described.
Hyperbiliverdinemia: Unraveling the Genetic Threads of a Rare Disorder
Biliverdin, a green bile pigment, normally becomes bilirubin; in hyperbiliverdinemia that step is impaired, so it builds up and may cause jaundice and fatigue.
Harnessing Genetic Insights: Understanding Hyperlipidemia Due to Hepatic Triglyceride Lipase Deficiency
When hepatic triglyceride lipase is deficient, cholesterol and triglycerides rise, raising the risk of early atherosclerosis. Gene testing guides diagnosis and care.
Harnessing Genetics: Understanding Hyperphosphatasia with Intellectual Disability Syndrome 3
Severe developmental effects in HPMRS3 trace to homozygous PGAP2 mutations, which disturb protein modification. Testing supports diagnosis and prognosis.
Harnessing Hope: Genetic Testing for Hyperuricemic Nephropathy, Familial Juvenile Type 3
Uromodulin gene mutations underlie HNFJ3, in which uric acid builds up and kidney function declines from childhood; gout risk and testing are covered.