Understanding, Diagnosing, and Using Genetic Testing for Klippel-Feil Syndrome
Congenital fusion of cervical vertebrae produces a short neck, low hairline and limited neck movement; research links GDF6, GDF3 and MEOX1 to Klippel-Feil syndrome.
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
Understanding, Diagnosing, and Using Genetic Testing for Malignant Neoplasm of Brain
Headaches, seizures and personality changes can signal a brain tumor; imaging and biopsy confirm it, while IDH1, IDH2 and MGMT results shape treatment.
Understanding, Diagnosing, and Using Genetic Testing for Malignant Tumor of the Urinary Bladder
Bladder cancer usually starts in the cells lining the bladder; cystoscopy, urinalysis and biopsy confirm it, while FGFR3 and TP53 findings inform prognosis.
Understanding Megacolon: Diagnosis and Genetic Testing
Abnormal widening of the colon may be present from birth as Hirschsprung's disease or develop later; imaging, rectal biopsy and RET testing tell the two apart.
Understanding, Diagnosing, and Using Genetic Testing for Metaphyseal Chondrodysplasia
Abnormal growth plates produce short stature, bowed legs and other deformities. MCD subtypes differ by gene and may be inherited in a dominant or recessive pattern.
Understanding, Diagnosing, and Using Genetic Testing for Microcephalic Osteodysplastic Primordial Dwarfism
Severe intrauterine growth retardation, microcephaly and skeletal abnormalities mark MOPD. X-rays, MRI and genetic testing support the diagnosis.
Microcephaly: Head Size, Causes and Genetic Testing
Head circumference below the 3rd percentile for age and sex can signal microcephaly. Exams, MRI or CT and testing of genes such as ASPM and WDR62 help find the cause.
Understanding, Diagnosing, and Using Genetic Testing for Microcephaly, Short Stature, and Impaired Glucose Metabolism 1
Episodes of hypoglycemia, a head circumference below the norm and height under the third percentile mark MSSIGM1, which exome sequencing or gene panels can confirm.