ProjectRaynor FamilyProject – Clinical and Genetic Evaluation of a Family with Cerebellar Degenerative Disease
Basic data
Acronym:
Raynor FamilyProject
Title:
Clinical and Genetic Evaluation of a Family with Cerebellar Degenerative Disease
Duration:
01/01/2024 to 31/12/2026
Abstract / short description:
The research program we propose will lead to a state-of-the-art genomic characterization of
cases from a family with so far unsolved molecular cause. It will lead to a deep characterization of the presence of a major genomic cause underlying the specific type of ataxia, likely a new gene or unusual mutation.
cases from a family with so far unsolved molecular cause. It will lead to a deep characterization of the presence of a major genomic cause underlying the specific type of ataxia, likely a new gene or unusual mutation.
Keywords:
ataxia
Ataxie
genetics
Genetik
Seltene neurologische Erkrankungen
Next-Generation Sequencing
Phänotypisierung
Involved staff
Managers
Faculty of Medicine
University of Tübingen
University of Tübingen
University Department of Neurology
Hospitals and clinical institutes, Faculty of Medicine
Hospitals and clinical institutes, Faculty of Medicine
Local organizational units
Department of Neurology with Focus on Neurodegenerative Disorders
University Department of Neurology
Hospitals and clinical institutes, Faculty of Medicine
Hospitals and clinical institutes, Faculty of Medicine