Medical genetics and genomic medicine in Turkey: a bright future at a new era in life sciences
By Prof. Dr. Tayfun Özçelik, Department of Molecular Biology and Genetics
Study of the Greater Middle East (GME), home to approximately 10% of the world’s population, has made invaluable contributions to the characterization of rare genetic disease, especially recessive conditions arising from the tradition of consanguinity and large families with multiple children. The exome-wide view of the Mediterranean basin and the Middle East shows that estimated inbreeding coefficients are around 10- to 20-fold higher than those in European, African, and East Asian 1000 Genomes Project populations. This translates to an impressive four- to sevenfold increase in the identification of potential disease causing variants for unsolved recessive conditions. In the years following the adoption of next-generation sequencing, an extreme degree of allelic, locus, and phenotypic heterogeneity has emerged for commonly observed diseases such as diabetes, extreme forms of obesity, hypertension, or neurodegeneration, making it notoriously difficult to resolve their molecular determinants at the genomic level. A scheme called “reverse phenotyping” offers an opportunity to facilitate the way forward in clinical delivery and informatics in the age of precision medicine. A successful application of reverse phenotyping recently occurred when the circadian rhythm gene cryptochrome 1 (CRY1) was found mutated in humans with delayed sleep phase disorder (DSPD) (Patke et al. 2017). Sleep disturbances is a common medical problem that affects nearly 10% of the population. In this talk I will outline our efforts in utilizing reverse genetics to contribute to the discovery of phenotype-associated genes in complex (e.g. obesity, diabetes, cardiovascular, neuropsychiatric, endocrine, and rheumatologic diseases) as well as rare genetic diseases and familial forms of cancer.
Date-Time: Wednesday 10 October, 2018 at:16:40
Place : SU-01 (UNAM Conference Hall)