Rare Diseases Are Not That Rare - Folkhälsan

25 August 2021

Rare Diseases Are Not That Rare

Despite the name, rare diseases are not at all that rare. Research into rare diseases also gives us a deeper understanding of other disease processes and the human body as a whole.

Listen to our podcast on genetics here (Swedish)

Within medicine, about 8,000 rare diseases are known and around 6% of the population suffers from some disease that is considered rare. That is every twentieth person. Many of the diagnoses are serious and are established early in childhood, most are genetic and some of them hereditary.

– At Folkhälsan Research Center, we have several clinical specialties. We explore rare neurological and neurometabolic diseases, and rare skeletal and muscular diseases, says Anna-Elina Lehesjoki, director of Folkhälsan Research Center and professor of medical and clinical genetics.

The research is about finding which genes cause disease and then examining the disease mechanisms. As we learn more about these rare diseases, the research also leads to a deeper understanding of the body's basic functions, and the course of other diseases.

– I myself am researching an epilepsy syndrome which is a neurodegenerative disease. Many memory disorders in society, such as Alzheimer's, are very common and the mechanisms we have found in our research are relevant for memory disorders as well. As such, the different areas of research support each other, Lehesjoki continues.

In the long run, this knowledge facilitates the diagnosis of rare diseases and lays the foundation for the development of new treatments.

– One of the keys to better medicine development is found in research in rare genetic variants, and the large-scale genetic research, which is underway in today's genetics, will allow us to develop new medications, explains Juha Kere, group leader at Folkhälsan Research Center and professor of molecular genetics.

– The research will also lead to new use for existing medicines. With a deeper understanding of the mechanisms of action, one can also benefit from the medicines that are already available, Lehesjoki adds.

Genetic diseases are often incurable in the current situation. However, being able to make a diagnosis quickly allows us to start treatments and other support functions that make life easier for the patient.

– Rare disease or not, every human being deserves a diagnosis and the best possible care, Lehesjoki concludes.

Listen to our podcast on genetic research with Professor Lehesjoki and Professor Kere here.

Text: Simon Granroth, Science Communicator