During 25-28 April, 2016, in the frame of Tempus MEDGEN project the training program was organized and held at the Center of Medical Genetics, Yerevan, Armenia for the specialists of Yerevan State Medical University. The specialists and residents form other medical centers and institutions were also participated. The training was conducted by Professor Heather Skirton and Specialists in Genetic Counseling Selina Goodman and Peter Lunt from Plymouth University, UK. The training program was mainly on how to learn and practice genetic counseling skills. The training consisted form the several parts, including: theoretical and practical parts, as well as real case discussions. The main themes of the training were the following: - Revision of basic skills of counseling - Revision of core conditions for counseling - Theory for work with clients and families - Skills practice session - Exercises on counseling (role games) - Real case discussions brought by participants Every day had an opening and closing sessions, when participants expressed their thoughts and experiences of the days, and what they took from that particular day. It was a very efficient and useful training. Participants shared their skills in genetic counseling. There were organized role games when participants acted as clients, counselors and also as observers of the course and took notes for giving the feedback on the process. After each practical part each participant received a feedback from the observer and had an opportunity to improve their skills for the next counseling exercise. Difficult counseling cases from own practice were presented and were discussed with the group.
During 29 March - 1 April, 2016, in the frame of Tempus MEDGEN project the training program on NGS (New Generation Sequencing) was organized and held at the Center of Medical Genetics, Yerevan, Armenia for the specialists of Yerevan State Medical University. The training was conducted by Tommaso Pippucci and Pamela Magini form University of Bologna, Italy. The training consisted form lectures and workshops. The main themes of the training were the following: - NGS technology and its applications: genomes, exomes and gene panels - How to evaluate an experiment? - Visualization of NGS data - Variant Filtering - Variant Prioritization - Inheritance filtering: Mendelian Models - Recessive and X-linked diseases - Dominant diseases: families and trios - Gene Prioritization - Gene Prioritization - Incidental findings in exome analysis - Incidental findings - Clinical interpretation: the thin red line between research and diagnostics - Practical workshop on puzzling cases During the trainings colleges from University of Charles, Czech Republic also joined to the training. Zdenek Sedlacek, Miroslava Hancarova and Darina Prchalova from Charles University discussed and shared their experience on using NGS results for the research and management in the fields of intellectual disability and autism. As a result of training participants gained useful information and knowledge on how to work with NGS and interpret the results which will be important part of their future work. There were opening and closing sessions every day, when participants expressed their thoughts and experiences of the days, and what they took from that particular day.
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Identifying Genes for Mendelian Traits using Next Generation Sequence Data
Sept. 28-Oct. 2, 2015 Max Delbrück Center (MDC) for Molecular Medicine Berlin, Germany
The Identifying Genes for Mendelian Traits using Next Generation Sequence Data Course will be held at the MDC in Berlin from Sept. 28-Oct. 2, 2015. The goal of the course is to teach the course participants both theory and application of methods to identify genes for Mendelian diseases/traits using filtering methods, homozygosity mapping and linkage analysis.
Emphasis in this course is on strategies for gene mapping and variant/gene identification for Mendelian Traits. It will include theory as well as practical exercises. The exercises will be carried out using a variety of computer programs (e.g. Gemini, GeneHunter, GERP, Homozygosity Mapper, Integrative Genome Viewer, MERLIN, PhyloP, PolyPhen, SEQLinkage, Variant Mendelian Tools,) and with pencil and paper. TOPICS include: study design; linkage analysis and homozygosity mapping using genotype array and next generation sequence data (exome and whole genome), haplotype reconstruction, evaluating pedigree informativeness and power to detect linkage, identification of causal variants using filter approaches, variant annotation, evaluation of deleterious effects of variants and their functionality. The organizers and instructors for the course are Suzanne Leal (Baylor College of Medicine) and Michael Nothnagel (University of Cologne).
The cost of the 5 day course is 975 EUR for researchers from an academic institution, and 1,950 EUR for individuals from private (for profit) companies. This fee covers tuition, Monday evening wine and cheese party and course related expenses (handouts, etc.) but not room, board or meals. Inexpensive housing is available for course participants at the MDC and nearby hotels. The maximum number of participants is 40.
For additional information on the course please contact Suzanne Leal:
Email: firstname.lastname@example.org URL: https://www.bcm.edu/research/labs/center-for-statistical-genetics/courses/ngs-mendelian-course-sept-oct-2015 Phone: +1 (713) 798-4011 Fax: +1 (713) 798-4012
Head of Department of Molecular Genetics Center of Medical Genetics and Primary Health Care