Next decade's goals for rare diseases

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.

BACKGROUND Rare diseases often present in the first days and weeks of life and may require complex management in the setting of a neonatal intensive care unit (NICU). Exhaustive consultations and traditional genetic or metabolic investigations are costly and often fail to arrive at a final diagnosis when no recognizable syndrome is suspected. For this pilot project, we assessed the feasibility ...

Physics Goals of the next Century @ Cern

After recalling briefly the main physics issues beyond the Standard Model, the main physics objectives of experiments at CERN in the coming decade(s) are reviewed. These include the conclusion of the LEP programme during the year 2000, a limited number of fixed-target experiments during the following years, the CNGS long-baseline neutrino programme and the LHC, both scheduled to start in 2005. ...

National Plan for Rare Diseases

Gene discovery for rare diseases

Cerebrovascular Diseases: Perspectives for the Next Decade

This issue of The Open Neurology Journal addresses with six manuscripts emerging risk factors for cerebrovascular diseases. Even being in the ‘post thrombolysis era’, stroke remains a major cause of death and disability. This is true not only in industrialized but also for developing countries where the burden of stroke is more and more increasing. This is also demonstrated by the growing inter...