Peeling Skin Syndrome Type A: Unraveling the Genetic Threads of a Rare Disorder
Inherited in an autosomal recessive way, this skin disorder sheds its outer layers and can lead to infections; a novel CDSN gene mutation has been reported.
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
Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and Arthrogryposis: Genetic Testing's Role in Diagnosis and Management
Small cortical folds, an underdeveloped cerebellum and joint contractures cause developmental delay and speech difficulty; exome sequencing can identify the gene.
Primary Ciliary Dyskinesia 32: Decoding the Genetic Blueprint
Persistent cough, sinusitis and ear infections follow when cilia cannot clear mucus in PCD32; testing supports earlier diagnosis, counseling and tailored treatment.
Progressive Essential Tremor-Intellectual Disability
Tremor, speech impairment, facial dysmorphism, intellectual disability and abnormal behavior occur together; an ASXL3 mutation was found in an overlapping syndrome.
Peering into the Genetics of Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 2
Both parents must carry the change for this recessive form; TK2 mutations lead to multiple mitochondrial DNA deletions, and testing identifies carriers in a family.
Progressive Myoclonic Epilepsy Type 9: Unraveling the Genetic Mysteries
Myoclonic seizures with cognitive decline define PME9; a newly reported EPM2A mutation shows the genetic variety behind the disorder and what testing can confirm.
Progressive Spondyloepimetaphyseal Dysplasia: Diagnosis
Skeletal changes, short stature, shortened fourth metatarsals and intellectual disability appear together in this progressive syndrome that gene testing can confirm.
Genetic Testing: A Beacon of Hope for Pulmonary Fibrosis and Bone Marrow Failure, Telomere-Related, 3
Lung scarring, bone marrow failure or both follow premature telomere shortening in PFBMF-TR3, a rare disorder often mistaken for conditions with similar symptoms.