Understanding, Diagnosing, and Using Genetic Testing for Cutis Laxa, Dominant/Recessive
Whether cutis laxa was passed down in a dominant or recessive pattern shapes recurrence risk, and gene testing also opens prenatal and preimplantation options.
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
Unlocking the Mysteries of CYP1B1-Related Disorders: The Power of Genetic Testing
A mutated CYP1B1 gene impairs the cytochrome P450 1B1 enzyme, a change linked to primary congenital glaucoma and to endometrial and ovarian cancer risk.
Dabrafenib Response: BRAF Testing Before Treatment
Tumors are biopsied and checked for a BRAF mutation before dabrafenib is prescribed, and other mutations found on testing can still change how well the drug works.
Understanding, Diagnosing, and Using Genetic Testing for Dilated Cardiomyopathy, Dominant
One copy of a mutated gene is enough to cause this form, giving each child a 50% chance of inheriting it; ECG, echocardiogram and cardiac MRI support the diagnosis.
DLD-Related Disorders: Language Signs and Genes
Specific Language Impairment, dyslexia and verbal dyspraxia fall under DLD; FOXP2, CNTNAP2 and ATP2C2 variations are studied as genetic risk factors.
Unlocking the Mysteries of DYSF-Related Disorders: Understanding, Diagnosing, and Genetic Testing
Loss of dysferlin from DYSF mutations drives Miyoshi myopathy, limb-girdle muscular dystrophy type 2B and distal myopathy with anterior tibial onset.
Decoding Dyskeratosis Congenita, Dominant: A Comprehensive Guide to Understanding, Diagnosis, and Genetic Testing
One copy of a TERC or TERT mutation is enough to cause this form, which brings nail dystrophy, mucosal leukoplakia, bone marrow failure and pulmonary fibrosis.
Decoding Dyskeratosis Congenita: Understanding, Diagnosing, and Genetic Testing
Short telomeres from DKC1, TINF2 or TERT mutations underlie the recessive form; bone marrow biopsy, exome sequencing, CVS and preimplantation testing are described.