Understanding, Diagnosing, and Using Genetic Testing for Keratosis Follicularis
Greasy, warty papules that worsen with heat, humidity and UV exposure mark keratosis follicularis; ATP2A2 mutations disrupt a calcium pump and pass on dominantly.
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
Understanding, Diagnosing, and Using Genetic Testing for Klippel-Feil Syndrome 1, Autosomal Dominant
One altered copy of GDF6 or GDF3 is enough to cause KFS1, giving a 50% chance of passing it on, while X-rays, CT or MRI show how far the vertebral fusion extends.
Understanding, Diagnosing, and Using Genetic Testing for Lattice Corneal Dystrophy Type I
Amyloid deposits form lattice patterns in the corneal stroma and cloud vision. Slit-lamp exams and TGFBI testing confirm this dominant disorder.
Understanding, Diagnosing, and Using Genetic Testing for Leri-Weill Dyschondrosteosis
Short stature and Madelung deformity of the wrist point to SHOX mutations; counseling, blood sampling and growth hormone therapy are described.
Understanding, Diagnosing, and Using Genetic Testing for Leukocyte Adhesion Deficiency 1
White blood cells that cannot stick to vessel walls cause recurrent infections, poor wound healing and severe periodontitis; flow cytometry checks CD18 expression.
Understanding, Diagnosing, and Using Genetic Testing for Lewy Body Dementia
Explore Lewy Body Dementia, its symptoms, and diagnosis. Learn how genetic testing identifies risk and personalizes treatment for better management of this condition.
Understanding, Diagnosing, and Using Genetic Testing for Lung Cancer
Non-small cell and small cell lung cancer are compared, with imaging and biopsy steps and how EGFR, ALK, ROS1 and BRAF mutations guide targeted therapy choices.
Lynch Syndrome 1 Testing and Earlier Cancer Screening
Colorectal and other cancers at younger ages follow inherited MMR faults in MLH1, MSH2, MSH6 and PMS2; diagnosis steps and family testing are covered.