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ORPHAN DISEASES HOW TO
However, should you need to contact the Rare Diseases BioResource, we can be reached via you do not have a rare disease, you can still contribute to the BioResource: there is more information in our sections on our Healthy populations and how to join the BioResource. We are able to recruit participants to our rare disease studies only through a referral by a clinician. Their contribution helps researchers to understand more about the genetic causes of rare disease. Our participants are essential to our research. To aid our work, we have tied that genetic information to clinical characteristics of the participants, which researchers call the 'phenotype'. We have used modern technologies to study part, or the entire DNA of many participants (whole-genome sequencing). We work in more than 50 disease areas, including in immunity, neuroscience, haematology, rheumatology, cardiovascular disease, and many more. The NIHR Rare Diseases BioResource recruits affected participants and in some cases, their relatives. A rare disease affects the individual, the parents, siblings and friends many people’s lives are affected by rare disease.30% of rare disease patients die before their fifth birthday.30 million people across Europe have a rare disease.The genetic basis of about half of these have been discovered a major challenge now is to identify the remaining causes of rare diseases.There are about 7,000 inherited rare diseases.The scale of the challenge of rare diseases Our work will improve care for those with rare diseases and support their families.
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We want to identify genetic causes of rare diseases, to improve diagnosis and to support work to develop and validate treatments. We established the Rare Diseases component of the BioResource to help to tackle rare diseases.