Wisdom in Genes: Understanding Waardenburg Syndrome Type 2 Through Genetic Testing
Pigmentation changes and hearing loss in WS2 trace largely to MITF, including a two-base deletion that truncates the protein and shows reduced penetrance.
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
Wolman Disease: Unveiling the Genetic Mysteries for Timely Diagnosis and Treatment
Acid lipase deficiency from LIPA mutations causes hepatosplenomegaly, adrenal calcification and failure to thrive; rapid whole-genome sequencing speeds the diagnosis.
Woolly Hair Nevus: Unraveling the Genetic Threads of a Rare Hair Disorder
Unlock the genetic mysteries of woolly hair nevus. Explore how genetic testing aids diagnosis and management of this rare hair disorder for better patient care.
Understanding X-linked Intellectual Disability with Isolated Growth Hormone Deficiency: The Role of Genetic Testing
Mainly affecting males, XLID-IGHD combines intellectual disability with growth hormone deficiency and short stature; a DLG3 mutation has been linked to the disorder.
X-linked Nonsyndromic Hearing Loss: Unraveling the Genetic Threads
Hearing impairment without other syndromic features, mostly in males, has been traced to a COL4A6 mutation affecting the cochlea; screening can identify carriers.
Genetic Testing: A Gateway to Understanding 46,XY Ovotesticular Disorder of Sex Development
Both ovarian and testicular tissue can occur in a 46,XY individual; testing clarifies the variants involved and mosaic patterns such as 45,X/46,XY.
ABeta Amyloidosis, Arctic Type: A Genetic Glimpse into a Rare Disorder
Amyloid-beta protein builds up in tissue, mainly the brain, when the APP gene is mutated, bringing cognitive decline and memory loss in this inherited disorder.
Addressing ABeta Amyloidosis, Iowa Type: The Role of Genetic Testing
Autosomal dominant inheritance gives a 50% chance of passing on the APP mutation behind ABeta amyloidosis, Iowa type, a cerebral amyloid angiopathy.