Project DAAD GeJo ARID – Transformation: Forschungspartnerschaft 16

Basic data

Acronym:
DAAD GeJo ARID
Title:
Transformation: Forschungspartnerschaft 16
Duration:
01/01/2016 to 31/12/2017
Abstract / short description:
Intellectual disability is characterized by
significant limitations both in intellectual functioning and in adaptive behavior as expressed in conceptual, social, and practical adaptive skills with about 2-3% of the population affected.
Our project aims at the identification and
characterization of novel autosomal recessive
intellectual disability genes in Jordanian families.
After a careful recording of the medical history of
affected individuals including drawing of the familial
pedigree, blood and skin biopsies are taken for
further processing. DNA of one affected individual
per family is then sequenced by Whole Exome Sequencing and data filtered for possibly disease causing mutations. The most promising candidate variants are then checked for segregation in the family and further analyses to determine pathogenicity is conducted.
Keywords:
Mental Retardation
Whole Exome Sequencing

Involved staff

Managers

Faculty of Medicine
University of Tübingen

Local organizational units

Institute of Medical Genetics and Applied Genomics
Department of Diagnostic Laboratory Medicine
Hospitals and clinical institutes, Faculty of Medicine

Funders

Bonn, Nordrhein-Westfalen, Germany
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