Can Ruti shows it cares for rare diseases
The IGTP and the Germans Trias Hospital face the spotlight for rare diseases again. This year our professionals are joining World Rare Disease Day on the last day of February to highlight these diseases and shine a light on the research activities in the field on campus.
The worldwide initiative #ShowYourRare is a campaign to raise the visibility and awareness of these diseases. One in 20 will live with a rare disease, or somebody who has one, at some point in their lives. They are diseases that occur infrequently and in most cases little is known about them and they are difficult to diagnose. Research is essential to discover the mechanisms behind them, improve diagnostic techniques and treatments. In Europe an illness is considered rare if it affects less than one in 2000 people. It has been calculated that there are more than 6000 known rare diseases, 80% of them have a genetic origin and 50% of them affect children.
The research and healthcare personnel at Germans Trias have are showing their lines of research by joining the #ShowYourRare campaign. Five research groups together with doctors and healthcare professionals who work together have made a series of videos. This way we are showing the faces behind the research.
- The group led by Dr Gisela Nogales studies neuromuscular and neuropediatric diseases
- The Neurogenetics Group led by Dr Antoni Matilla works mainly on ataxias and Sanfilippo Syndrome
- The Infant Hepatic Oncology team led by Dr Carolina Armengol is currently leading biological and pathological studies in the first international clinical trial for children with liver cancer
- The main line of research for Dr Mireia Jordà is pituitary tumours in the field of endocrinology
- Dr Eduard Serra heads the Hereditary Cancer Group. They study Neurofibromatosis and other hereditary diseases which give a predisposition to developing tumours of the peripheral and central nervous system
- Healthcare professionals work closely with all the researchers at the IGTP to transmit the needs of their patients and bring scientific advances to them as quickly as possible.
Session open to the public
On the World Rare Disease Day the hospital and the Germans Trias i Pujol Research Institute are joining forces with the Guttmann Institute to organize an open workshop to explain more about these diseases and bring them to the forefront for healthcare policy makers and society in general. This year the workshop will concentrate on neuromuscular diseases given that the IGTP and the Guttmann Institute have been working together since July 2017 with a multidisciplinary team to treat patients with these diseases. During the morning the professionals who provide healthcare and carry out research into rare diseases will explain what they are doing on the Can Ruti Campus for these patients and they will present the results of their integrated care plan for people with rare neuromuscular diseases. It will take place this Friday 1 March.