Cutis Laxa, Autosomal Dominant: Unraveling the Genetic Threads
Elastin gene changes leave skin loose and can affect the heart and lungs, and a child of an affected parent has a 50% chance of inheriting this form of cutis laxa.
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
Decoding DEND Syndrome: The Promise of Genetic Testing
Developmental delay, epilepsy and neonatal diabetes arise from KCNJ11 mutations; in one case, finding the variant allowed a switch from insulin to sulfonylurea.
Decoding Desmoplastic Small Round Cell Tumor: The Role of Genetic Testing in Modern Medicine
Unlock the potential of genetic testing in diagnosing and personalizing treatment for Desmoplastic Small Round Cell Tumor, a rare, aggressive cancer.
Delving into Discoid Lupus Rash: The Role of Genetic Testing in Diagnosis and Management
Coin-shaped, red and scaly patches on sun-exposed skin mark discoid lupus erythematosus, which stays in the skin rather than affecting internal organs as SLE does.
Decoding Distal Myopathy: The Role of Genetic Testing in Unraveling the Mystery
A group of rare muscle disorders that weakens the hands and feet, usually beginning in adulthood; genetic testing can separate it from other neuromuscular conditions.
Decoding Distal Spinal Muscular Atrophy: The Role of Genetic Testing
A dominant mutation in the FBXO38 gene underlies progressive weakness of the calves, hands and feet, and testing can confirm it when biopsy results are unclear.
Exploring Ectodermal Dysplasia: The Role of Genetic Testing in Diagnosis and Management
Sparse hair, missing or abnormal teeth and an inability to sweat follow from faults in the ectoderm; naming the gene supports diagnosis and family planning.
Exploring Ehlers-Danlos Syndrome, Classic Type, 1: The Role of Genetic Testing
Skin hyperextensibility, joint hypermobility and tissue fragility mark cEDS, where COL5A1 or COL5A2 mutations disturb the production of type V collagen.