Türkiye klinikleri Tıbbi Genetik

Nadir hastalıklar toplumda belirli bir sıklığın altında görülen ancak birlikte değerlendirildiğinde toplum sağlığı için ciddi bir sorun oluşturan bir hastalık grubudur. Önemli bir kısmı kalıtsal olup tüm yaş gruplarını etkilese de genellikle çocuklar daha sık etkilenir. Nadir hastalıkların çoğunun kesin tedavisi bulunmamaktadır, ancak son yıllardaki biyoteknolojik gelişmeler hastalıkların patofizyolojisini daha iyi anlayıp ilaç geliştirme süreçlerini hızlandırmıştır. Bu derlemede nadir hastalıklara genel bir bakış sağlandıktan sonra orphan (yetim) ilaç geliştirme süreçleri hakkında bilgi verilmiştir. Ayrıca biyoteknolojik ilaçların mekanizmalarına göre sınıflandırılması, her sınıfın mevcut örnekleri, geliştirilmekte olan aday tedaviler ve ilaç geliştirme sürecinde yaşanan zorluklar tartışılmıştır.Rare diseases are a group of diseases that are less frequent than a certain threshold, but, on the whole, cause a serious public health burden. A significant amount of them are hereditary, and although encountered in all ages, they mostly affect children. Most rare diseases have no definitive treatment. Nevertheless, biotechnological progress helped us comprehend their pathophysiology and accelerated drug development processes. In this review, a general insight into the rare diseases is provided, followed by advancements in orphan drug development processes. The classification of the biotechnological therapies depending on their mechanism of action, current examples, candidate therapy modalities, and challenges faced during drug development are also discussed.</p

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium

Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease