Okullarda Kara Tahta dönemini sona erdiren Akıllı Tahtanın yabancı dil hazırlık sınıflarında kullanımı ve karşılaştırılması

Akıllı tahta sistemi piyasaya 1997 yılında çıkmasına karşın, Türkiye?de okullarda son 4 yıldır yaygın olarak kullanılmaya başlanmıştır. Amerika Birleşik Devletleri ve Avrupa Birliği ülkelerinde uzun zamandır çok yaygın bir şekilde kullanılmaktadır. Ülkemizde, nitelikli eğitimi hayata geçirmek, eğitimde fırsat eşitliğini sağlamak, ders işlerken teknolojiden verimli bir şekilde yararlanmak amacıyla 2010 yılının Kasım ayında Milli Eğitim Bakanlığı ile Ulaştırma Bakanlığı birlikte “FATİH projesini” başlatmıştır. Günümüzde bilgi ve iletişim teknolojilerinin kullanımı hızla yayılmakta ve bu yeni teknolojiler geniş uygulama alanları bulabilmektedir. Bu gelişmelere bağlı olarak, öğretme ve öğrenme sürecine yönelik beklentiler artmakta ve yeni yaklaşımlar ortaya çıkmaktadır. İngilizce “Smartboard” ifadesinden hareketle dilimize “Akıllı Tahta” olarak çevrilen bu teknoloji harikası aygıt sayesinde tahtalar etkileşimli bir bilgisayar ekranına dönüşmektedir. Bununla birlikte, akıllı tahtaların ne yazık ki öğretme ve öğrenme sürecine sağladığı yararlarla ilgili bilimsel alandadeneysel/uygulamalı olarak gerçekleştirilmiş son derece az sayıda araştırma bulunmaktadır. Bu araştırma projesi ile yabancı dil öğrenimi ve öğretimi sürecinde, özellikle de yabancısözcük öğreniminde, akıllı tahta kullanımının öğrencinin öğrenme becerisine herhangi bir katkı sağlayıp sağlamayacağı saptanmaya çalışılmıştır. Araştırma boyunca elde edilen saha çalışması verileri, SPSS bilgisayar programı (Statistical Package for the Social Sciences) yardımıyla çözümlenmiş, bu alanda az sayıdaki inceleme-araştırma çalışmalarınakatkıda bulunmak ve yeni araştırmalara örnek teşkil etmek hedeflenmiştir.Although “Smart Board” system has been on the market since 1997, it has been used in the schools of Turkey since the last 4 years. Moreover, it has been widely used in United States of America and European Union for a long time. In our country, in order to take advantage of qualified education, to ensure the opportunity of equality in education, to take efficiently advantage of the course technology both Ministry of National Education and Ministry of Communication signed Fatih project and announced it to the public in November 2010. Nowadays, the use of information and communication technologies spread rapidly and these new technologies can lead to a wide field of applications. Expectations in the process of teaching and learning have been increasing and new approaches are emerging. Thanks to this English term “Smart board” translated as “Akıllı Tahta” to our language, the boards are transformed to an interactive computer screen. Yet, unfortunately, there is very little experimental research in the literature about its benefits on the process of teaching and learning. This project intends to identify whether the use of smart board could provide any contribution to the students learning skills or not in the process of foreign language learning-teaching, specifically vocabulary learning. It is aimed to contribute to the literature which is thought to be insufficient with the findings gathered via SPSS computer program (Statistical Package for the Social Sciences)

Position Statement:Emerging genetic therapies for rare disorders

Emerging genetic therapies for rare disorders at high cost, cannot realistically address the global burden of disease. Stakeholders must develop new pathways to ensure safe, fair and sustainable provision of such therapies

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.

Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical care. Locus-specific databases allow for the collection, organization, storage, and analysis of genetic variants of disease. Here, we describe the development and analysis of the TREAT-NMD DMD Global database (http://umd.be/TREAT_DMD/). We analyzed genetic data for 7,149 DMD mutations held within the database. A total of 5,682 large mutations were observed (80% of total mutations), of which 4,894 (86%) were deletions (1 exon or larger) and 784 (14%) were duplications (1 exon or larger). There were 1,445 small mutations (smaller than 1 exon, 20% of all mutations), of which 358 (25%) were small deletions and 132 (9%) small insertions and 199 (14%) affected the splice sites. Point mutations totalled 756 (52% of small mutations) with 726 (50%) nonsense mutations and 30 (2%) missense mutations. Finally, 22 (0.3%) mid-intronic mutations were observed. In addition, mutations were identified within the database that would potentially benefit from novel genetic therapies for DMD including stop codon read-through therapies (10% of total mutations) and exon skipping therapy (80% of deletions and 55% of total mutations)

Neuromuscular disease genetics in under-represented populations: increasing data diversity

Neuromuscular diseases (NMDs) affect ∼15 million people globally. In high income settings DNA-based diagnosis has transformed care pathways and led to gene-specific therapies. However, most affected families are in low-to-middle income countries (LMICs) with limited access to DNA-based diagnosis. Most (86%) published genetic data is derived from European ancestry. This marked genetic data inequality hampers understanding of genetic diversity and hinders accurate genetic diagnosis in all income settings. We developed a cloud-based transcontinental partnership to build diverse, deeply-phenotyped and genetically characterized cohorts to improve genetic architecture knowledge, and potentially advance diagnosis and clinical management. We connected 18 centres in Brazil, India, South Africa, Turkey, Zambia, Netherlands and the UK. We co-developed a cloud-based data solution and trained 17 international neurology fellows in clinical genomic data interpretation. Single gene and whole exome data were analysed via a bespoke bioinformatics pipeline and reviewed alongside clinical and phenotypic data in global webinars to inform genetic outcome decisions. We recruited 6001 participants in the first 43 months. Initial genetic analyses ‘solved’ or ‘possibly solved’ ∼56% probands overall. In-depth genetic data review of the four commonest clinical categories (limb girdle muscular dystrophy, inherited peripheral neuropathies, congenital myopathy/muscular dystrophies and Duchenne/Becker muscular dystrophy) delivered a ∼59% ‘solved’ and ∼13% ‘possibly solved’ outcome. Almost 29% of disease causing variants were novel, increasing diverse pathogenic variant knowledge. Unsolved participants represent a new discovery cohort. The dataset provides a large resource from under-represented populations for genetic and translational research. In conclusion, we established a remote transcontinental partnership to assess genetic architecture of NMDs across diverse populations. It supported DNA-based diagnosis, potentially enabling genetic counselling, care pathways and eligibility for gene-specific trials. Similar virtual partnerships could be adopted by other areas of global genomic neurological practice to reduce genetic data inequality and benefit patients globally

HGP NÖROLOJİK HASTALIKLARA YAKLAŞIMIMIZI NASIL ETKİLEDİ ?

İnsan genomu projesinin, 1990' lı yıllardan başlayarak nörolojik hastalıkların tanınması ve tedavisinde çok önemli katkısı olmaktadır

Current Outline of Exon Skipping Trials in Duchenne Muscular Dystrophy

Molecular treatments for Duchenne muscular dystrophy (DMD) are already in clinical practice. One particular means is exon skipping, an approach which has more than 15 years of background. There are several promising clinical trials based on earlier works. The aim is to be able to initiate the production of enough dystrophin to change the rate of progression and create a clinical shift towards the better. Some of these molecules already have received at least conditional approval by health authorities; however, we still need new accumulating data