Skeletal Dysplasia: Unraveling Mysteries with Genetic Testing
More than 450 disorders of bone and cartilage growth fall under skeletal dysplasia, and genetic testing can separate similar forms and guide treatment choices.
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
Spastic Ataxia: Unraveling the Genetic Threads of a Complex Disorder
Combining muscle stiffness with loss of coordination, spastic ataxia is a hereditary cerebellar ataxia in which DNA analysis can pinpoint the causative mutation.
Spastic Paraplegia-Paget Disease of Bone Syndrome: Unveiling the Genetic Code
Neurological and skeletal features come together here: progressive leg weakness and stiffness alongside disrupted bone renewal, with a shared genetic basis under study.
Spinal Muscular Atrophy with Lower Extremity Predominance: Decoding the Genetic Puzzle
A mutation in the DYNC1H1 gene weakens the leg muscles in SMA-LED, sometimes alongside learning difficulties; DNA analysis pinpoints the change and guides therapy.
Tackling T-cell Immunodeficiency with Epidermodysplasia Verruciformis: The Role of Genetic Testing
Defective T-cells leave skin unusually open to HPV, causing wart-like lesions that can progress to squamous cell carcinoma; EVER1 and EVER2 mutations are implicated.
Temperature-sensitive Oculocutaneous Albinism Type 1: The Genetic Testing Revolution
In TS-OCA1, low melanin lightens skin, hair and eyes, and pigment shifts with temperature. TYR gene testing confirms the diagnosis and aids carrier screening.
Trichothiodystrophy: Unraveling the Genetic Threads of a Rare Disorder
Sulfur-deficient brittle hair, intellectual impairment and photosensitivity follow faults in DNA repair genes, including C7orf11. Diagnosis and counseling are covered.
TRPV4-Related Bone Disorder: Unlocking Genetic Insights for Better Management
Bone fragility, deformity and variable bone density stem from TRPV4 mutations. Separating it from similar skeletal conditions and choosing treatment are covered.