Improving the diagnosis and treatment of rare diseases

There are more than 6000 rare diseases and most of them have no effective treatment. Often rare diseases are chronic and life-threatening, with symptoms such as loss of sight, kidney disease, diabetes, and reduced intelligence. With over 300 million patients affected worldwide, these diseases represent a major global health challenge.

In Turkey, there is very little clinical understanding of rare diseases at the basic molecular science level. A collaboration between the UK and Turkey is helping to reveal how two rare diseases work at the molecular level. The project has produced new knowledge and raised awareness among decision-makers with the aim of opening up new avenues for diagnosis and therapeutics.

The research combined the Turkish partner’s expertise in cell biology and proteomics with UK collaborator’s proficiency in genetics. The team shared the results of their research with clinicians and geneticists who study rare genetic diseases in Turkey, Europe and the USA. In doing so they were able to use existing resources more efficiently to identify the molecular mechanisms underlying these diseases.

The researchers want to further investigate ciliopathies - largely untreatable and underdiagnosed developmental disorders that affect multiple organs and systems - to uncover how mutations cause the disease and to lead to new avenues for accurate and effective diagnosis and treatment.

Hearing directly from rare disease patients about their experience and the hopes they have for treatment and diagnosis has been a driving force of my research career.

Dr Elif Firat-Karalar, Koc University