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Recent Developments in Fighting Rare Diseases.

Updated on March 6, 2013

In a recent report that was published by the Pharmaceutical Research and Manufacturers of America (PhRMA); leading drug and research companies announced a shift in the focus of their research to find contemporary medications for a range of rare diseases that have fewer or no treatment options. The report indicated that they are running tests of more than 5,400 potential new medicines, including many being tested for multiple conditions and nearly 1,800 research projects are for rare diseases which may potentially improve the outlook for many of those patients.

There are nearly 7000 to 8000 known rare diseases worldwide, many with life-threatening outcomes. Until recently, pharmaceutical research companies did not willingly organize research on treatments for rare diseases; this is due to the limited number of patients for each condition and thus lack of profit motive. These diseases are often called orphan diseases to coin the fact that they are rare conditions.

Patients with rare diseases genuinely need a boost in medical advancement in this area as they still lack proper diagnostic tests and accordingly suffer delays in diagnosis and treatment. Therefore; it is believed that more quality research on these rare illnesses will provide patients with improved drug efficacy and fewer side effects. In the last decade the number of medicines for treating rare diseases increased to 140 per year compared to 64 per year in the previous decade.

The use of revolutionized genomic approaches like next generation sequencing (NGS) made it possible to analyze large panels of genes or whole genomes in a single run. It was already used for the diagnosis of rare disorders like neuorological diseases, retinitis pigmentosa and skeletal abnormalities. Recently; on the 24th of Jan 2013, the EU has announced 38 million Euro funding for research towards new treatments and for the development of a central global rare disease hub involving 70 institutions that will allow scientists to share data from their genomics research projects. These researchers will try to address rare neurodegenerative and neuromuscular disorders using next generation whole-exome sequencing.

Also on June 2012; the BGI, world\'s largest genomics organization, and The Children\'s Hospital of Philadelphia (CHOP) announced that they have jointly initiated the 1,000 rare diseases project with the aim of accelerating the discovery of genetic variants underlying rare diseases. Researchers on this project are using NGS technologies that are both cost effective and efficient. They are hoping to identify the genetic variants underlying rare diseases by using whole-genome sequencing which makes it possible to pinpoint the causes of many rare disorders using smaller number of patients samples.

The advance in DNA sequencing made it possible for an entire human genome to be sequenced within few days at a reasonable cost. This will undoubtedly pave the way for future research on personalized treatments for patients suffering rare diseases through interpreting both genetic and clinical data leading to more effective treatments and a better quality of life for patients.








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