Raising awareness of rare diseases during HARVI – week in Oulu

To make the topic of rare diseases more approachable for the public, the University of Oulu held a series of information sessions during Rare Disease Week (HARVI) at the Kontinkangas Campus from 24 to 28 February.  The initiative referred to international Rare Disease Day, which is celebrated on 29 February. HARVI-week gave insights into rare disease research and healthcare services in northern Finland. The sessions also offered an opportunity for a closer look at the Rare Disease Unit at Oulu University Hospital and networking with local experts in the field.

RARE DISEASES ARE NOT THAT RARE

A disease is defined as rare if it affects less than 5 persons out of 10,000. However, contrary to what many believe, rare diseases are not that rare. There are 6,000 to 8,000 identified rare diseases, which affect people of various age groups. Of them, 72% are hereditary. The number of people directly affected by rare diseases is equivalent to the population of the world’s third largest country (European Journal of Human Genetics, 2020). It is estimated that about 300,000 people in Finland live with a rare disease, and are supported by family, friends and a team of caregivers, all of whom make up the rare disease community.

‘Local research and treatment is extremely important when it comes to the topic of rare diseases. The research conducted at the University of Oulu and Oulu University Hospital is recognised internationally. It mainly focuses on hereditary neurological disorders of children, movement disorders, rare variants in Parkinson’s disease and memory disorders of working-age people,’ said Anne Remes, Professor of Neurology at the University of Oulu.

RARE DISEASES BROUGHT CLOSER TO LIGHT AT RARE DISEASE WEEK IN OULU

One of the main goals of HARVI-week was to increase the understanding of the needs of people affected by rare diseases in order to leave no one behind.

Monday 24 February started with a general presentation on rare diseases by Outi Kuismin, Assistant Chief Physician from the Rare Disease Unit at Oulu University Hospital.

‘The main goal of the Rare Disease Unit at Oulu University Hospital is to improve treatment pathways, increase the knowledge on rare diseases and conduct research that will allow early diagnosis. Through multi-professional and international collaboration, we can introduce better treatment rehabilitation,’ commented Kuismin.

This presentation was followed by a speech from a representative of the Patients Association.

On Wednesday 26 February, the programme covered research on rare neurological diseases in Oulu with presentations by Kari Majamaa, Professor of Neurology, University of Oulu and Anne Remes, Professor of Neurology, Dean at the University of Oulu.

The information session on Friday 28 February was held in English. Johanna Uusimaa, Professor of Paediatric Neurology and Reetta Hinttala, Associate Professor from the PEDEGO Research Unit at the University of Oulu discussed the previously undefined NHLRC2 gene associated with the novel FINCA disease and other neurological phenotypes.

The sessions highlighted that the low prevalence of rare diseases results in challenges, such as a lack of knowledge and scarcity of expertise. Therefore, raising awareness amongst the general public and decision-makers and addressing the needs of patients living with rare diseases are important. This initiative also created a social opportunity for local people to meet and share experiences.

JOINT EFFORTS MAKE A DIFFERENCE

‘Collaboration really is the key in the research of rare diseases.’
  Oskari Virtanen, Nordic Medical Lead, Rare Conditions at Roche

Due to the rarity and diversity of rare diseases, it is important to strengthen knowledge and provide more opportunities for decision makers, researchers and clinicians to connect. Rare Disease Week perfectly accomplished this goal. The event was organised by the University of Oulu, Oulu University Hospital and the City of Oulu in cooperation with Roche, one of the world’s leading innovative pharmaceutical companies, and it was supported by the OuluHealth ecosystem.

According to Oskari Virtanen, rare diseases are one of the company’s focus areas for research and drug development. Roche clearly understands the importance of collaboration between researchers, healthcare providers, people living with rare diseases and patient organisations. Rare Disease Week was organised in Oulu as part of the framework agreement that was signed in May 2019 between Roche, the City of Oulu, the University of Oulu and Oulu University Hospital. This partnership enables close cooperation on clinical trials, educational activities as well as research and innovation.

‘We have recognised the great need to be part of rare-conditions ecosystems, just like the one that is organising this Rare Disease Week in Oulu. Rare diseases are also a focus area in our collaboration agreement. We do appreciate the state-of-the art knowledge in this field in Oulu and northern Finland,’ concluded Virtanen.

 

Text and images: Joanna Seppänen, Health & Life Science, BusinessOulu

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