Exploring Ectodermal Dysplasia 12: Genetic Testing's Role in Diagnosis and Management
Explore how genetic testing enhances diagnosis, management, and family planning for Ectodermal Dysplasia 12. Early detection aids in managing symptoms effectively.
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
Ehlers-Danlos Syndrome, Periodontal Type 2: Unraveling the Genetic Threads
Gum disease severe enough to cause early tooth loss, rather than the usual skin and joint signs, marks EDSPD2; a THBS2 mutation was found in a related form.
Exploring Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2: The Role of Genetic Testing
Developmental regression, sensory impairment and mitochondrial abnormalities on cell imaging were reported in a child with a novel mutation in the MFF gene.
Encephalopathy with Amyotrophy and Optic Atrophy: Diagnosis
Gradual brain degeneration, muscle wasting and optic nerve damage occur together here; genetic testing can confirm the mutation, guide therapy and inform family planning.
Exploring the Role of Genetic Testing in Encephalopathy: Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy
Seizures and developmental delays beginning in infancy are linked to NAXD gene variation; early testing, research on nicotinamide and inheritance patterns are covered.
Exploring Epidermolysis Bullosa Simplex 6: Genetic Testing as a Beacon of Hope
Scarring and alopecia set this generalized subtype apart; DSP mutations reported in Korean twins, carrier testing and research therapies are discussed for EBS 6.
Epilepsy, Early-Onset, Vitamin B6-Dependent: Genetic Testing's Role in Diagnosis and Management
Pyridoxine addresses the seizures of this form, which follows ALDH7A1 mutations; testing separates it from other epilepsies and informs carrier and prenatal choices.
Exploring Epilepsy, Familial Focal, with Variable Foci 2: Genetic Testing's Role in Diagnosis and Management
Focal seizures that differ from relative to relative make this epilepsy hard to pin down; finding an NPRL3 variant confirms FFEVF2 and shapes treatment and counseling.