Cutis Laxa, Autosomal Dominant 2: Unraveling the Genetic Mysteries
Skin hanging in folds, premature aging and organ involvement can look like other disorders, so ELN testing is often what separates ADCL2 from similar conditions.
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
Cracking the Code: Understanding Cutis Laxa, Autosomal Recessive, Type 1B
ARCL1B, a rare genetic disorder, benefits from genetic testing by providing accurate diagnoses, informed family planning, and personalized treatment strategies.
Decoding Deafness-encephaloneuropathy-obesity-valvulopathy Syndrome: The Role of Genetic Testing
Progressive hearing loss, neurological impairment, weight gain and heart valve problems overlap in this rare syndrome, and genetic markers can support earlier diagnosis.
Decoding Desbuquois Dysplasia 2: The Role of Genetic Testing in Early Diagnosis and Management
Growth retardation, joint laxity and a flat face mark Desbuquois dysplasia 2, a recessive skeletal disorder; carrier testing shows parents their recurrence risk.
Decoding Developmental and Epileptic Encephalopathy, 13: The Role of Genetic Testing
Genotype-phenotype correlations remain hard to pin down in DEE13, where seizures begin in infancy and no single mutation accounts for every case.
Decoding Dilated Cardiomyopathy 2B: The Role of Genetic Testing in Diagnosis and Management
Loss of dysferlin, the muscle repair protein encoded by DYSF, is linked in DCM2B to heart damage that coxsackievirus infection can make worse.
Exploring Ehlers-Danlos Syndrome, Kyphoscoliotic and Deafness Type: The Role of Genetic Testing
Severe scoliosis, joint laxity and progressive hearing loss appear together in this rare variant, reported with the c.362dupC duplication in the FKBP14 gene.
Enigmatic Encephalopathy-Hypertrophic Cardiomyopathy-Renal Tubular Disease Syndrome: Unlocking Mysteries with Genetic Testing
Three organ systems are affected at once in this rare syndrome: cognitive and neurological impairment, thickened heart muscle, and kidney tubules that misfilter.