How Seckel Syndrome 7 Is Inherited and Diagnosed
Named after pediatrician Helmut Seckel, this autosomal recessive disorder involves CEP152, a gene needed for centrosome function, cell division and brain development.
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
Seckel Syndrome 8: Growth Delay, Microcephaly, CEP152
Severe growth retardation and a small head size arise from faults in genes that drive basic cellular processes; two new CEP152 variants were reported in one family.
Solving the Puzzle of Short Stature with Microcephaly and Distinctive Facies: The Role of Genetic Testing
Small head size, reduced growth and distinctive facial features mark short stature with microcephaly; inheritance may be autosomal dominant, recessive or X-linked.
SOFDH Syndrome: Sparse Hair, Nails and Short Stature
Sparse hair, underdeveloped fingernails, distinctive facial features and short stature together define SOFDH; DNA analysis can confirm it and guide early care.
SOPH Syndrome, the NBAS Gene and Vision Problems
Growth retardation, optic atrophy and the Pelger-Huet white blood cell anomaly follow NBAS gene mutations; testing separates SOPH syndrome from similar disorders.
Sinoatrial Node Dysfunction and Deafness: Unraveling the Genetic Threads
Congenital deafness alongside sinoatrial node problems can bring bradycardia and syncope, and genetic testing supports diagnosis, early intervention and family planning.
Specific Language Impairment 5: Unraveling Genetic Threads in Communication Challenges
Children with SLI 5 struggle with vocabulary, grammar and sentence structure despite adequate intelligence, and genetic markers may help settle an ambiguous diagnosis.
Solving Spermatogenic Failure 10: The Promise of Genetic Testing
Around 7% of men worldwide are affected by infertility, and SPGF10 is one genetic cause that whole-genome sequencing and other high-throughput methods can look for.