Joubert Syndrome 22: Genetic Testing as a Gateway to Understanding and Management
A dominant inheritance pattern with reduced penetrance means some carriers of a SUFU variant show no symptoms, which shapes counseling and management plans.
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
Juvenile Onset Parkinson Disease 19A: Genetic Testing
Parkinson's beginning at a young age raises questions about inherited risk; an Indian population study of rare variants and 90 risk loci frames the testing discussion.
Leveraging Genetic Testing for L-Ferritin Deficiency: A New Frontier in Accurate Diagnosis and Treatment
Low ferritin can look like iron-deficiency anemia or thalassemia; a mutation in the ferritin light chain gene, FTL, is what marks out L-ferritin deficiency.
Inherited Risk of Acute Lymphoblastic Leukemia: HTR3
HTR3 family genes were identified as contributors to childhood ALL susceptibility, and the page covers risk assessment, targeted therapy and genetic counseling.
Leukoencephalopathy with Mild Cerebellar Ataxia: GJB1
Coordination difficulties, balance problems and cognitive change mark this white matter disease; a GJB1 variant widened the range of disorders tied to that gene.
Macrocephaly-Developmental Delay Syndrome and Its Genes
Delayed milestones together with an unusually large head can trace to several mutations; pinpointing them supports early therapy, prenatal testing and counseling.
Melanoma Susceptibility 10: Genes, Screening and BRAF
Testing for CDKN2A, BRAF and MC1R changes can flag raised melanoma risk, shape screening plans and point to BRAF inhibitors for tumors carrying that mutation.
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome: Unraveling the Genetic Threads
A thin corpus callosum with small head size and intellectual disability defines MCCIDS; finding the causative gene separates it from similar disorders.