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- Title
Genetics and modeling of pediatric brain disease.
- Authors
Bilgüvar, Kaya
- Abstract
Since the sequencing of first human genome approximately 20 years ago, genetic research has witnessed substantial progress. Specifically, advances in next-generation sequencing technologies enabled researchers to ask and answer previously inaccessible questions in multiple domains of biology and medicine. The outer surface of the human brain, cortex, arguably represents the most human and even individual specific tissue developmentally. The intricate organization of the cortex with gyri and sulci are governed by a complex series of processes, and perturbations in these processes lead to structural and functional abnormalities. Severe intellectual disability, epilepsy or neuropsychiatric disorders are among the common consequences of these disruptions from which the patients usually suffer lifelong. In this presentation, we will be presenting our experience over the last 15 years in the identification and modelling of genetic defects underlying developmental disorders of the nervous system.
- Subjects
BRAIN diseases; GENETICS; GENETIC models; NEUROBEHAVIORAL disorders; NERVOUS system; NUCLEOTIDE sequencing; CEREBRAL sulci
- Publication
Anatomy: International Journal of Experimental & Clinical Anatomy, 2022, Vol 16, p196
- ISSN
1307-8798
- Publication type
Article
- DOI
10.2399/ana.22.003s