Hello from Portugal to all of you!
My wife is currently ending its Master course in Biopharmaceutical Sciences and wants to start a Ph.D on the same subject: a metabolic disease named Medium-chain Acyl-Coenzime A Dehydrogenase Deficiency (MCADD, http://en.wikipedia.org/wiki/Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency) that tends to affect young infants in their early childhood and that can ultimately lead to neonatal death if untreated.
Currently, there is no cure for MCADD. All the symptoms can only be prevented by diet and no pharmacological treatment is available. However, many patients reach adulthood without knowing that they have MCADD. Only by their first hypoketotic hypoglycemia crisis are they diagnosed as MCADD patients. This may happen under physical exercice but, if more severe, even a high fever can trigger such crisis. There are some studies on MCADD, but they are more often by the characterization of the mutant phenotypes rather than to try to better understand the molecular basis by which the enzime looses activity.
My wife's goal is to apply new approaches and techniques to better characterize MCADD in a molecular level, aiming for the development of the first prototype molecule that could act in MCADD patients to reverse their phenotype. Unfortunately, as funding opportunities are becoming scarse, students and their Ph.D are the best choice to pursue such goal. Your donations will support tuition fees during 4 years, alogn with some scientific material needed in laboratory work.
I personally thank in advance for all the people, contributors or not, for reading my proposal but, especially, for being now aware for this disease that needs urgent attention.