Since January 2020, the accredited with ISO 15189 Department of Molecular Genetics Function and Therapy (MGFT) at the CING has become an affiliated Reference Center for the Endo-ERN (https://endo-ern.eu) network.
Currently, MGFT is participating in three of the Main Thematic ENDO-ERN Groups (Adrenal; Hypothalamic & Pituitary conditions; Sex Development & Maturation) and contributes to the main objective and shared goal of the network which is to improve access to high-quality healthcare for patients with rare hormonal disorders. For this purpose, MGFT along with the other Reference Centers across Europe actively participates to the continuous education programs that are regularly offered virtually or organized in the format of scientific meetings by the Network. Moreover, MGFT has also established distinctive and ongoing basic science research programs on the molecular mechanisms of pubertal development and epidemiological surveillances on specific rare endocrine disorders such as congenital adrenal hyperplasia.
Additional information about the MGFT activities associated with the ENDO-ERN network can be found in the recent publication from the department, available at doi: 10.1186/s13023-024-03171-4.
The ERN-NMD (Neuromuscular Diseases) cardinal interests are the Neuropathies, myopathies, Myasthenia, spinal Muscular atrophy (SMA and ALS) and Mitochondrial diseases. For each group of diseases there are working groups.
Prof. Kleopas Kleopa participates in the ERN-NMD as below:
- Member of the Executive Committee of the ERN EURO-NMD, since September 2024.
- Co-Chairs the joint Working Group on Gene Therapies of the ERNs EURO-NMD, RND and EpiCare as of 2023.
- Co-Chairs the Working Group on Neuropathies since 2024. (He is a Member since 2023)
- Makes presentations at the Annual Meetings - WG update and symposium Speaker on gene therapy for CMT and related inherited neuropathies.
- ERN Webinar Speaker on Development of gene therapies for Charcot-Marie-Tooth neuropathies.
- Organize a series of webinars on gene therapies for neuromuscular and rare neurological disorders.
- Prepares and organize inter-ERN survey on availability of gene therapies across European countries.
- Active involvement in discussion of guidelines, ERN policies, chairing working group meetings, recruitment of new Members to the working groups.
Dr Eleni Papanicolaou participates in the ERN-NMD as below:
Dr E. Papanicolaou together with Prof. K. Kleopa represent Cyprus for the ERN-NMD. Dr E. Papanicolaou participates to the Board meetings at the annual conferences. Every six months, Eleni updates the records for the ERN about the new cases (numbers of patients) and she is answering many surveys performed by ERNs. Dr E. Papanicolaou, participates in several working groups.
Prof. Kyproula Christodoulou participates in the ERN-NMD as below:
The ERN-NMD has introduced along with the European Molecular Genetics Quality Network (EMQN) external quality assessment (EQA) schemes for NGS based testing of rare diseases they focus on. The Neurogenetics Department headed by Prof. K. Christodoulou participates in the pilot and full schemes of both programmes. In addition, the staff of the Neurogenetics Department are informed about the webinars of the ERNs and participated online in several of them. Prof. K. Christodoulou also participates in some group meetings that have relevance with genetic aspects of neuromuscular or rare neurological diseases
VASCERN, the European Reference Network (ERN) for Rare Multisystemic Vascular Diseases, aims to enhance European cooperation in the diagnosis and treatment of these conditions by adopting a multidisciplinary, collaborative approach to patient care. This effort seeks to address the unique challenges posed by the rarity of these diseases.
Heritable Thoracic Aortic Disease (HTAD) encompasses a group of disorders characterized by thoracic aortic aneurysms or dissections that are familial or caused by genetic mutations. These conditions can be syndromic, such as Marfan Syndrome, Loeys-Dietz Syndrome, Aneurysm-Osteoarthritis Syndrome, Arterial Tortuosity Syndrome, Multisystemic Smooth Muscle Dysfunction Syndrome, and Neonatal Marfan Syndrome, or nonsyndromic, including Familial Thoracic Aortic Aneurysms and Dissections (Familial TAAD) and Familial Aortic Dissection.
CING actively contributes to VASCERN's Heritable Thoracic Aortic Diseases (HTAD) Rare Disease Working Group, which publishes expert guidelines aimed at improving early diagnosis and management strategies for heritable thoracic aortic diseases.
The European Reference Network EpiCARE was launched in 2017, as part of the 24 ERNs accredited and funded by the European Commission. The network is composed of hospital-based health care professionals with a high level of expertise in diagnosis and treatment of rare and complex epilepsies, accredited by their respective national health authorities and the European Commission. EpiCARE members are working together to create significant added value to patient care, research, education and training, in close collaboration with patient organizations and Scientific Societies. CING is an affiliated member of the ERN EpiCARE.
The ERN EpiCARE aims at improving accessibility of detailed diagnostics and treatment suggestions to individuals of all ages with rare and complex epilepsies across Europe, also fostering research and innovation. In parallel, the development of a close and sustainable partnership with patient advocates (ePAG) for a better-structured and accessible to all Europeans healthcare system, is a priority. Reference: https://epi-care.eu/
The ERN GENTURIS for all patients with one of the rare genetic tumour risk syndromes (genturis). A genetic tumour risk syndrome (genturis) is a genetic disorder in which inherited genetic mutations in one or more genes strongly predispose an individual to the development of benign or malignant tumours, sometimes with childhood onset. Most patients develop multiple primary tumours in various organ systems. The lifetime risk for cancer can be as high as 100%. As of November 2023, 51 HCPs in 23 countries are members of ERN GENTURIS: 17 Member States with 44 Full Members, 4 Member States with 5 Associated National Centres and 2 Member States with a Coordination Hub. The network of the Archbishop Makarios III Hospital; Karaiskakio Foundation and CING (including the Department of Cancer Genetics, Therapeutics & Ultrastructural Pathology and the Department of Clinical Genetics and Genomics) is an affiliated member.
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