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22/09/2015

The Private Foundation Daniel Bravo supports research on spinal muscular atrophy

TIZZANO_884

22/09/2015

Dr. Eduardo Tizzano from VHIR has received a grant, together with a researcher from Sant Pau, with the aim to investigate this rare disease that occurs during childhood.

TheThe%20Private%20Foundation%20Daniel%20Bravo%20Andreu%20has%20given%20a%20grant%20of%20300,000%20euros%20to%20a%20collaborative%20research%20on%20spinal%20muscular%20atrophy%20that%20will%20be%20carried%20out%20by%20Vall%20d'Hebron%20Institute%20of%20Research%20(VHIR)%20and%20Sant%20Pau%20Biomedical%20Research%20Institute%20(IIB).%20The%20study%20will%20be%20led%20by%20Dr.%20Eduardo%20Tizzano,%20head%20of%20the%20Genetics%20Medicine%20group%20at%20VHIR,%20and%20Dr.%20Pablo%20Fuentes-Prior%20from%20IIB,%20and%20is%20focused%20in%20understanding%20and%20finding%20solutions%20for%20this%20severe%20hereditary%20rare%20disease%20that%20occurs%20during%20childhood%20and%20has%20no%20treatment%20available%20yet.%20%20The%20aim%20of%20both%20scientists%20is%20to%20extend%20the%20molecular%20interactions%20between%20the%20mRNA%20codified%20by%20the%20exon%207%20of%20the%20SMN2%20gene%20and%20two%20key%20factors%20that%20act%20synergistically%20to%20promote%20the%20exclusion%20of%20this%20exon%20of%20the%20mRNA,%20the%20hnRNP%20A1%20and%20Sam68.%20This%20data%20will%20be%20used%20to%20avoid%20the%20death%20of%20motor%20neurons%20by%20maintaining%20adequate%20levels%20of%20the%20Survival%20of%20Motor%20Neuron%20protein.%20%20The%20Daniel%20Bravo%20Foundation%20will%20also%20fund%20two%20projects%20of%20other%20research%20institutes,%20on%20sudden%20unexplained%20death%20and%20Kawasaki's%20disease.%20The%20foundation%20has%20received%2054%20projects%20of%20high%20scientific%20level%20that%20have%20been%20assessed%20by%20a%20specialized%20agency%20of%20the%20Catalan%20government.%20The%20key%20aspects%20that%20the%20evaluators%20been%20taken%20into%20account%20are:%20collaborations%20between%20clinical%20and%20basic%20researchers,%20patient%20centered%20research,%20response%20to%20uncovered%20medical%20needs%20during%20childhood%20and%20youth,%20and%20the%20possibility%20to%20apply%20the%20results%20over%20the%20next%20years.%20" Private Foundation Daniel Bravo Andreu has given a grant of 300,000 euros to a collaborative research on spinal muscular atrophy that will be carried out by Vall d'Hebron Institute of Research (VHIR) and Sant Pau Biomedical Research Institute (IIB). The study will be led by Dr. Eduardo Tizzano, head of the Genetics Medicine group at VHIR, and Dr. Pablo Fuentes-Prior from IIB, and is focused in understanding and finding solutions for this severe hereditary rare disease that occurs during childhood and has no treatment available yet.The aim of both scientists is to extend the molecular interactions between the mRNA codified by the exon 7 of the SMN2 gene and two key factors that act synergistically to promote the exclusion of this exon of the mRNA, the hnRNP A1 and Sam68. This data will be used to avoid the death of motor neurons by maintaining adequate levels of the Survival of Motor Neuron protein.The Daniel Bravo Foundation will also fund two projects of other research institutes, on sudden unexplained death and Kawasaki's disease. The foundation has received 54 projects of high scientific level that have been assessed by a specialized agency of the Catalan government. The key aspects that the evaluators been taken into account are: collaborations between clinical and basic researchers, patient centered research, response to uncovered medical needs during childhood and youth, and the possibility to apply the results over the next years.

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