Edition of 10 April 2007

The recently funded project, TargetScreen2, aimed at developing treatments for associated cell membrane proteins disorders, held its official kick-off meeting last month in Lisbon, Portugal. The project, which started officially on 1 March 2007, involves an international consortium with representations from: Faculty of Sciences of the University of Lisbon (Portugal); EMBL - European Molecular Biology Laboratory (Heidelberg, Germany); University of Regensburg (Germany); University of Leeds (UK); EcBio - Investigação e Desenvolvimento em Biotecnologia, SA (Oeiras, Portugal); Sygnature Chemical Services Limited (Nottingham, UK); Dualsystems Biotech AG (Zurich, Switzerland); and OSIS - Olympus Soft Imaging Solutions (Planegg, Germany).

This trans-national group of partners from academia and industry (SMEs), TargetScreen2 aims to develop cutting-edge post-genomics functional cell-based approaches to identify novel compounds of high therapeutic potential which correct defective traffic and/or functioning of 3 model membrane proteins (MC4R, ENaC and CFTR) involved in human disorders.

Rather than using transcriptomic or proteomic post-genomic approaches, which usually deliver long lists of candidate genes that may only be remotely associated with the respective disease, TargetScreen2 takes the next post-genomic challenge towards the understanding of biological processes in health and disease. This is an elucidation of protein function at a genome-wide scale. Membrane proteins were selected as the focus of research because, they represent some of the largest families encoded by the human genome (including receptors, channels, antibodies, transporters, etc). Accordingly, membrane proteins are involved in many important cellular mechanisms, such as communication, immunity, signalling and response to environmental stimuli and play major roles in cells and organisms, both in physiological and pathological states.

As a proof-of-concept, TargetScreen2 will apply these innovative bench-to-bedside approaches to deliver novel small molecules, tested to preclinical stage to correct defects of traffic/function of the above 3 model membrane proteins and of ultimate therapeutic potential to a rare disease such as cystic fibrosis and many others.

Two patients described by Turkish researchers were affected by macrocephaly, immune deficiency and anemia. One of them was also affected by periventricular white matter lesions whilst the other had a myelinisation delay in the same region.

Addmedica SAS has bought up the rights to the pharmaceutical speciality Siklos®, currently under development for the treatment of sickle cell disease. The molecule was awarded an orphan designation in July 2003 by the EMEA for this indication, which gave market exclusivity for 10 years in EU member states. Addmedica hopes to obtain the marketing authorisation for the product between now and the end of this year.

Consult the complete Events List for all events announced in OrphaNews Europe.