Joubert Syndrome 16: Journey Through Genetic Testing
Six pathogenic genes were reported in a study of 20 children, alongside developmental delay, coordination difficulty and the molar tooth sign seen on MRI.
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
Joubert Syndrome 17: Navigating the Genetic Pathways to Early Diagnosis and Intervention
Hypotonia, ataxia and intellectual disability accompany the molar tooth sign in this CPLANE1-linked subtype, reported at high incidence in Albanian families.
Unlocking the Mysteries of Lethal Occipital Encephalocele-Skeletal Dysplasia Syndrome with Genetic Testing
Brain tissue protruding through a skull defect plus abnormal bone development make this syndrome hard to recognize, so identifying the genes involved can confirm it.
Leukoencephalopathy with Calcifications and Cysts: Unraveling the Genetic Code for Better Diagnosis and Treatment
Calcifications and cysts in brain white matter can bring seizures, cognitive decline and motor problems; DNA analysis separates LCC from similar disorders.
Decoding Lipoic Acid Synthetase Deficiency: The Promise of Genetic Testing
Too little lipoic acid impairs mitochondrial enzymes, bringing neurological problems and muscle weakness. Whole-exome sequencing can identify LIAS mutations.
Lynch Syndrome 4: Unlocking the Genetic Code for Better Diagnosis and Management
SVA retrotransposon insertion in an MMR gene exon can disturb RNA splicing, a mechanism tied to this syndrome; screening, counseling and therapy research are outlined.
Unlocking the Mysteries of Lynch Syndrome 5: The Role of Genetic Testing
Faults in MLH1, MSH2, MSH6, PMS2 and EPCAM raise colorectal and endometrial cancer risk; frequent colonoscopy, prophylactic surgery, aspirin and PGD are discussed.
Mysteries of Maffucci Syndrome: Unveiling Genetic Insights
Explore how genetic testing uncovers IDH1 and IDH2 mutations, aiding in the early diagnosis, personalized treatment, and family planning for Maffucci Syndrome.