Floating-Harbor Syndrome: Unveiling the Genetic Mysteries Behind a Rare Disorder
Explore the role of genetic testing in diagnosing Floating-Harbor Syndrome, its genetic causes, early intervention benefits, and implications for family planning.
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
Facing Foveal Hypoplasia 1: The Role of Genetic Testing in Diagnosis and Management
Blurred central vision with normally pigmented eyes and congenital nystagmus can point to an underdeveloped fovea; SLC38A8 and PAX6 testing confirms the diagnosis.
Frasier Syndrome: Unraveling the Genetic Threads of a Rare Disorder
Childhood nephrotic syndrome alongside gonadal dysgenesis points to WT1 mutations; confirming Frasier syndrome guides kidney care, hormone therapy and counseling.
Frontorhiny: Early Diagnosis and Genetic Counseling
A rare disorder of facial development, Frontorhiny has a genetic basis that is still being mapped; testing can support early diagnosis and genetic counseling.
Genetic Gateways: Understanding and Diagnosing Galloway-Mowat Syndrome
Microcephaly together with nephrotic syndrome marks GMS, and a homozygous splicing mutation in the NUP133 gene has been identified as a cause.
Genetic Insights into Generalized Dominant Dystrophic Epidermolysis Bullosa: A Pathway to Better Management
A COL7A1 mutation disrupts type VII collagen, producing skin that blisters easily, milia, atrophic scarring and dystrophic nails. Testing confirms GDDEB.
Genetic Insights into Gerstmann-Straussler-Scheinker Syndrome: Unraveling the Mystery of a Rare Prion Disease
Gerstmann-Straussler-Scheinker syndrome is a rare inherited prion disorder linked to PRNP mutations, causing progressive ataxia, dementia and motor dysfunction.
Genetic Insights: Exploring Gilbert Syndrome and Its Impact on Hepatitis B Outcomes
Reduced UGT1A1 activity lets bilirubin build up and causes occasional jaundice; some variants are linked to better hepatitis B outcomes and fewer complications.