Intellectual Disability, Autosomal Recessive 53: C12orf4
Research has tied the C12orf4 gene to IDAR53. Finding that mutation supports earlier diagnosis, targeted management and carrier testing for prospective parents.
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
Illuminating Intellectual Disability: Understanding Autosomal Recessive 54 Through Genetic Testing
Speech therapy, occupational therapy and educational support follow an early IDAR54 diagnosis, which genetic testing can confirm when symptoms alone are unclear.
Journey Through Joubert Syndrome 24: Unraveling the Genetic Mysteries
TMEM216 mutations disrupt cilia during development, leading to hypotonia, ataxia and delays; testing can identify the change before symptoms are obvious.
Journey into Joubert Syndrome 25: Unraveling the Genetic Mysteries
Developmental delays, coordination problems and abnormal breathing mark this subtype; DNA analysis distinguishes it from similar disorders and informs recurrence risk.
Genetic Testing and Joubert Syndrome 26: Unlocking the Mysteries of a Rare Disorder
Linked to MKS3, CC2D2A and RPGRIP1L, this ciliopathy affects the cerebellar vermis; carrier testing and counseling help parents weigh reproductive options.
Lamb-Shaffer Syndrome: Leveraging Genetic Testing for Lifelong Learning and Living
Explore the role of genetic testing in diagnosing Lamb-Shaffer syndrome, facilitating early intervention, personalized care, and informed family planning strategies.
Understanding Leukodystrophy and Acquired Microcephaly with or without Dystonia
Damage to the brain's white matter alongside acquired microcephaly brings developmental delay, motor and cognitive problems; DNA analysis names the mutations involved.
Luscan-Lumish Syndrome: Unraveling the Genetic Threads of a Rare Disorder
Developmental and physical anomalies define this rare disorder, which is linked to SETD2 mutations; testing aids diagnosis, family planning and research.