Revealing Renal Cysts and Diabetes Syndrome: The Role of Genetic Testing
Also called HNF1B-related disorder, RCAD combines renal cysts, early-onset diabetes and electrolyte imbalances, and HNF1B analysis separates it from similar conditions.
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
Selective Pituitary Resistance to Thyroid Hormone: Unveiling the Genetic Code
TSH stays high despite normal or raised thyroid hormone levels because the pituitary does not respond; one case was traced to a novel NCOR2 gene mutation.
Solving the Puzzle: Understanding Solitary Median Maxillary Central Incisor Syndrome
A single central incisor in the upper jaw can signal wider craniofacial problems, including holoprosencephaly, nasal defects and pituitary gland dysfunction.
Scrutinizing Sorsby Fundus Dystrophy: Genetic Testing as a Beacon of Hope
Macular degeneration beginning in the fourth or fifth decade, with night blindness, marks this autosomal dominant disorder mapped to chromosome 22q.
Spinocerebellar Ataxia Type 34: Symptoms and Diagnosis
Balance loss, speech difficulty, involuntary eye movements and sometimes cognitive decline occur in SCA34, a rare inherited disorder of the cerebellum.
Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations: A Genetic Insight
Congenital joint dislocations, joint pain and limited mobility mark SED-CJD; a novel CHST3 missense variant in a Pakistani family widened the mutation spectrum.
TNF Receptor-Associated Periodic Fever Syndrome (TRAPS): Understanding the Role of Genetic Testing
Repeated fevers with abdominal and joint pain are often mistaken for common illnesses. A TNFRSF1A mutation confirms this autoinflammatory syndrome and directs care.
Tourette Syndrome: Tics, Heritability and Gene Testing
Repeated involuntary movements and vocalizations define this highly heritable disorder, which likely involves many genes. Testing limits and privacy issues are weighed.