Yara is a currently a researcher specialising in rare diseases and one of the stars for the Rare Disease Day 2018 video. She first witnessed the effects of rare diseases while working as a pharmacist. She learnt about the problems rare disease patients face, with the majority of the diseases still lacking a treatment. This inspired Yara to get involved with research as she wanted to help identify causes, triggers and to find cures to bring relief to patients, their families and their friends.
Her research on Marfan syndrome
Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Around 1 in 5000 people are affected and symptoms can appear at any age. Because this connective tissue is found throughout the body, the rare disease affects the heart, blood vessels, bones, joints and eyes and can be life threatening when affecting the heart. Yara’s project is to work on identifying the new genes and genetic modifiers involved in Marfan syndrome, analysing the pathophysiology of the disease and developing new methods of diagnosis.
Obstacles faced for research
Yara believes that working on rare diseases can be one of the most complicated areas of research. The rarity of the diseases mean that there are fewer patients to enrol in clinical and genetic studies. Additionally the lack of knowledge of rare diseases and their complexity make it more difficult for researchers to come up with effective scientific strategies when designing studies. Underpinning all of these challenges is a lack of funding of rare disease research which limits the amount of studies that can take place.
The role of patients
Rare disease patients, when they come together, are not that rare at all says Yara. Given that many patients are experts in their diseases, they can be a very powerful voice as rare disease advocates. This voice should be used to bring awareness to health care professionals, policymakers and the general public of the impacts of rare diseases on their daily lives. Patient participation in clinical trials and research projects will help to progress the development of treatments.
Hopes for the future of research
Yara hopes that as research progresses and awareness improves, we will learn more about rare diseases and the number of rare diseases with treatment will increase. At the moment only 5% of rare diseases have treatment and there are many gaps in scientific and medical knowledge. But Yara believes that if health care providers, researchers and patients work closely together great progress will be made in the future.