Charting the Course of Chilblain Lupus: The Role of Genetic Testing in Diagnosis and Treatment
Painful red or purplish lesions worsened by cold weather can precede systemic lupus erythematosus; a gain-of-function TLR7 variant has been described.
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
Challenging Cholesteryl Ester Storage Disease: The Role of Genetic Testing
A deficiency of lysosomal acid lipase lets cholesteryl esters and triglycerides collect in tissues, enlarging the liver and raising cholesterol levels.
Cracking the Code: Genetic Testing for Cockayne Syndrome Type 1
Photosensitivity, developmental delay and progressive neurological decline begin in early childhood; this autosomal recessive disorder stems from ERCC8.
Understanding Cockayne Syndrome Type 2: Genetic Testing as a Beacon of Hope
Severe and early in onset, CS2 appears shortly after birth and progresses quickly; ERCC6 and ERCC8 mutations inform clinical management and family planning.
Cracking the Code: Genetic Testing for Congenital Aniridia
Partial or complete absence of the iris defines congenital aniridia, usually caused by PAX6 mutations, with light sensitivity, cataracts and glaucoma among the risks.
Comprehending Congenital Dyserythropoietic Anemia: The Role of Genetic Testing
Bone marrow in CDA makes red blood cells that are destroyed early, causing anemia, fatigue and pallor. DNA testing tells types I, II and III apart when blood work cannot.
Congenital Long QT Syndrome: The Role of Genetic Testing in Understanding This Heart Disorder
A prolonged QT interval on an ECG can precede fainting, seizures or sudden cardiac death; one review found only three genes with well-supported roles in LQTS.
Congenital Membranous Nephropathy: Causes in Newborns
Maternal antibodies against the neutral endopeptidase (NEP) protein cross the placenta and damage a newborn's kidneys, causing swelling, proteinuria and low albumin.