NA gene bank wins long-term support following new grant
Long-term storage of patient DNA has been made possible following new grant support received in Munich, a major advantage for current and future research into NA and other rare movement disorders. In June, Dr. Benedikt Bader won a grant by the Friedrich Baur Stiftung in Munich for laboratory material (consumables) needed to extract DNA from all the blood samples received for Western blot diagnostics since 2005.
Jia Liu, a doctoral student newly involved in neuroacanthocytosis research, is completing a database of the clinical symptoms of the patients whose DNA is stored. This collection of patient DNA will be valuable in research projects that may emerge in the future, such as the screening for newly discovered genes or the search for new disease-associated genes in rare movement disorders.
The grant also covers preservation and long-term storage of these biomaterials and their sharing with EMINA and other collaboration partners.
Detailed analysis and sequencing of the VPS13A gene is available on a commercial and clinical basis. Inquiries can be directed to the Medizinisch-Genetisches-Zentrum (medical genetic center, MGZ) in Munich. Full contact information is available at the MGZ homepage (www.mgz-muenchen.de/homepage.html).
Because genetic testing remains expensive as a diagnostic procedure due to special properties of the gene, the free Western blot testing provided by Ludwig Maximilians University is considered the preferred screening method. If Western blot analysis is not conclusive, Dr. Benedikt Bader can arrange detailed analysis of the VPS13A gene by directly forwarding extracted DNA to the MGZ to avoid a second blood sampling of the patient.