ID

45668

Descrizione

Principal Investigator: Joseph G. Gleeson, MD, The Rockefeller University, Laboratory of Pediatric Brain Disease, Howard Hughes Medical Institute, USA MeSH: Cerebellar hypoplasia,Lissencephaly,Microcephaly,Agenesis of corpus callosum,Pontocerebellar hypoplasia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001267 The purpose of this study is to identify new genetic causes of recessive forms of pediatric neurodevelopmental disorders (NDDs) including Cerebellar hypoplasia (CBH), Lissencephaly (LIS), Microcephaly (MIC), Corpus callosum hypoplasia (CCH), Pontocerebellar hypoplasia (PCH), Pontine tegemental cap dysplasia (PTCD), and Aicardi syndrome among many others. Using whole exome sequencing on one or two affected members per family, we are able to identify many pathogenic genes for these families. Using Human SNP Linkage Scans, which takes advantage of the Illumina HumanCore Array, and parametric linkage analysis software (Genehunter, Allegro, and others), we seek to identify pathogenic loci utilizing 60-70 families per year. Through the combination of parametric linkage analysis with exome sequencing and bioinformatics approaches, we will refine our search for superior sensitivity and accuracy when investigating candidate genes and identifying causative mutations for disease.

collegamento

dbGaP study = phs=001267

Keywords

versioni (1)

1. 02/04/2023 02/04/2023 - Simon Heim

Titolare del copyright

Joseph G. Gleeson, MD, The Rockefeller University, Laboratory of Pediatric Brain Disease, Howard Hughes Medical Institute, USA

Caricato su

2 de abril de 2023

DOI

Per favore, per richiedere un accesso.

Licenza