Short-Rib Thoracic Dysplasia 13: Unraveling the Genetic Mysteries
Part of the skeletal ciliopathy group, short-rib thoracic dysplasia 13 involves shortened ribs and sometimes extra digits; DYNC2H1 variants are a described cause.
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
Short-rib Thoracic Dysplasia 14 with Polydactyly: Unraveling the Genetic Threads
Shortened ribs, a narrow thorax and extra fingers or toes come from DYNC2H1 mutations; whole-exome sequencing with validation assays can confirm SRTD14 before birth.
Short Stature, Microcephaly, and Endocrine Dysfunction: Decoding the Genetic Puzzle
A deficiency in the QSOX2 gene disrupts growth hormone regulation and mitochondrial function, producing short height, small head size and hormonal imbalance.
Short Stature with Nonspecific Skeletal Abnormalities: Unlocking the Genetic Code
Mutations in the Indian Hedgehog (IHH) gene disturb bone growth in short stature with nonspecific skeletal abnormalities, and testing can guide growth hormone decisions.
Solving the Mystery of Silver-Russell Syndrome 3: The Role of Genetic Testing
Intrauterine growth restriction, a triangular face and body asymmetry suggest SRS3, tied to changes at the 11p15 imprinting center or maternal disomy of chromosome 7.
Singleton-Merten Syndrome 2: Unraveling the Genetic Threads of a Rare Disorder
A gain-of-function change in the IFIH1 gene dysregulates immune responses in SMS2, which brings dental anomalies, aortic calcification and osteoporosis.
Spotlight on Spinocerebellar Ataxia Type 41: Unlocking the Potential of Genetic Testing
Expansion of a GGC repeat in ZFHX3 disrupts autophagy in SCA41, so damaged proteins accumulate; testing can confirm the cause before symptoms are pronounced.
Solving the Mystery of Spondylocostal Dysostosis 6, Autosomal Recessive: The Role of Genetic Testing
Both parents must carry the HES7 change for a child to have SCD6-AR, which distorts spine and rib development; carrier screening and early diagnosis are covered.