Research for Rare - Research for rare diseases

IonNeurONet – Network for neurological and ophthalmological Ion Channel Disorders

The goal of IonNeurONet is to create a clinical and research network for neurological and ophthalmological Ion Channel disorders. Neurologic and neuropediatric centers across Germany will participate in a network for the following most important ion channel diseases: non dystrophic myotonias and periodic paralyses, hemiplegic Migräne, episodic ataxias, specific inherited seizure disorders, paroxysmal movement disorders, specific mendelian pain disorders, and specific types of retinopathies. A fast and efficient diagnostic genetic tool based on next generation sequencing will be provided and connected to research projects for whole exome sequencing. Other research is focussed on functional physiological studies in heterologous expression systems, muscle and nerve cells. We will provide platforms for genetic and bioinformatic analyses, automated and deep functional studies, channel trafficking, and induced pluripotent stem cells. Our consortium will provide nation-wide care for these rare and often unrecognized disabling disorders. The planned collaboration of clinicians, geneticists and physiologists will be ideal to identify novel disease mechanisms as a basis for future therapies.

Projekte
Kontakt
Dr. Birte Zurek
Institut für Medizinische Genetik und Angewandte Genomik
Universität Tübingen
Calwerstr. 7
72076 Tübingen
Tel.: +49 7071 29-72285
E-Mail: Birte.zurek@med.uni-tuebingen.de
Internet: www.ionneuronet.de/

Projektleitung:
Holger Lerche, Professor Dr. med., Ärztlicher Direktor
Abteilung Neurologie mit Schwerpunkt Epileptologie,
Hertie-Institut für klinische Hirnforschung
Universität Tübingen
Hoppe-Seyler-Straße 3
72076 Tübingen
Tel.: +49-7071-29-80442 (-80466)
Fax: +49-7071-29-4488
E-Mail: holger.lerche@uni-tuebingen.de

Publications

Weiterführende Informationen

Artikel IonNeurONet in: Verbundforschung für seltene Erkrankungen. Gemeinsam zu Diagnose und Therapie

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