As part of the 29th February ‘World Rare Diseases Day’, the European University of Lefke (EUL), Faculty of Arts and Sciences, Department of Molecular Biology and Genetics organised a symposium on ‘Rare Genetic Diseases’.

The symposium was held with the contributions of Prof. Dr. Burçin Şanlıdağ and Assoc. Prof. Dr. Mahmut Çerkez Ergören from Near East University (NEU), İzlem Sönmez from the Rare Diseases Network, and Asst. Prof. Dr. Gülten Soycan from the European University of Lefke. In line with the meaning and importance of the day, rare genetic diseases that are particularly seen in the Turkish Republic of Northern Cyprus (TRNC) were discussed, and the aim of the establishment of the Rare Diseases Network (NGHA) was mentioned.

In the symposium, Çerkez Ergören, who made a speech on Rare and Undiagnosed Diseases in the TRNC, conveyed information about rare diseases in the world and shared up-to-date information on rare genetic diseases observed in the TRNC. Furthermore, Ergören drew attention to the importance of pre-pregnancy genetic disease carrier tests and newborn screening.

In the presentation titled ‘Establishment and Activities of the Rare Diseases Network’, Sönmez provided information about the Rare Diseases Network established in 2020 with the initiative of the Universal Patient Rights Association. Sönmez continued the speech about the awareness and lobbying activities carried out in the last four years and explained the aims of NGHA. NGHA emphasised that advocacy work should be carried out in order to publicise the problems experienced by patients and their relatives and to mobilise policymakers.

The symposium continued with Şanlıdağ’s speech titled ‘Rare Genetic Diseases: From the Paediatric Neurology Window’. Şanlıdağ stated that rare genetic diseases are often manifested in childhood and are characterised by neurological involvement, and shared sample cases on the subject and talked about the approach of paediatric neurology.

Finally, Soycan, head of the Department of Nutrition and Dietetics at EUL, who attended the symposium as a speaker, drew attention to the relationship between nutrition and genetic diseases in the speech. Soycan provided information about the potential of the nutrient-gene-focused diet therapy applied in the treatment of phenylketonuria, a rare hereditary metabolic disease, to be applied in metabolic diseases. Soycan also argued that general nutritional recommendations given for society could be more effective in the prevention and treatment of metabolic diseases such as type-2 diabetes, cardiovascular diseases and obesity by moving to the individual dimension in line with scientific studies in the fields of nutrigenetics and nutrigenomics, which examine the nutrient-gene relationship.

The symposium, which was organised to draw attention to rare genetic diseases in our country and to raise awareness, ended with the presentation of certificates of appreciation to the speakers.