Blood samples needed for key EMINA research
An important part of the EMINA research project is being conducted at the Medical University of Vienna, where researchers led by Dr. Claudia Roos are looking to test a novel hypothesis about VPS13A, the missing protein in ChAc patients. But to undertake their work, Dr. Roos's team needs the help of NA patients and their families in the form of blood samples. We hope you will help us support this important work.
If you can help, please ask your doctor to draw 2-5 ml of venous blood in an EDTA tube from both a NA patient and from a control (this can be a non-related or a related person who is not affected by NA) at the same time. It's important to send these under the same conditions (blood tubes wrapped in paper towels in a Styrofoam box with cool pads should be fine. The probes should be cooled but not frozen). Please label each sample appropriately. The full address for Dr. Roos and her team is below; all your shipping costs will be reimbursed by the Vienna team.
|Red Blood Cells - copyright Wellcome Image|
The Vienna team will use the blood samples to determine whether VPS13A is implicated in autophagy, the normal process whereby cell components are cleared. A defect in the autophagic pathway may lead to both abnormal red cell shape and neurodegeneration. The donated samples will let researchers test their hypothesis about VPS13A's possible role in autophagy.
Please send samples to:
Dr. Claudia Roos,
Max F. Perutz Laboratories (MFPL)
Medical University of Vienna
Dr. Bohr-Gasse 9/3
Vienna A-1030, Austria