2017 Irish Society of Human Genetics conference: Register online!

Dear Colleagues,

Registration is now open for the 2017 Irish Society of Human Genetics conference to be held at Croke Park, Dublin on Friday, 15th September.

Registration for the 2017 meeting includes 1 years ISHG membership.

Pricing is as follows:
• Early Bird (available up to 28th August): 50 euro
• Reduced rate (available to students or those with no taxable income): 40 euro

You can also avail of joint ISHG and ESHG membership (1 year):
• Early Bird (available up to 28th August): 105 euro
• Reduced rate (available to students or those with no taxable income): 95 euro.

 There are 2 ways to register:
1) Complete registration and payment details via the online system

Select the relevant option from the dropdown menu below
OR

2) Complete the registration link and send it, together with payment details, to the ISHG Secretary.

Forms can be submitted via email or land mail (details are contained in the form).

Note the deadline for abstracts has now passed. Any queries regarding late submissions should be directed to ISHG_Secretary@rcsi.ie .

If you have any questions please don’t hesitate to contact me.

Many thanks and best wishes,
Gianpiero Cavalleri Secretary, ISHG

2017 Irish Society of Human Genetics conference: abstract submissions

Dear Colleagues,

Registration is now open for the 2017 Irish Society of Human Genetics conference to be held at Croke Park, Dublin on Friday, 15th September.  
The deadline for abstracts has now passed. Any queries regarding late submissions should be directed to ISHG_Secretary@rcsi.ie
Early Bird ISHG Membership + Registration
I am also delighted to announce our plenary speakers for the conference; Agnar Helgesson from DeCode, Iceland and David Keegan of the Mater University Hospital, Dublin.

If you have any questions please don’t hesitate to contact me.

Many thanks and best wishesk,

Gianpiero Cavalleri

Secretary, ISHG

Identifying Genes for Mendelian Traits using Next Generation Sequence Data

September 18-22, 2017
MaxDelbrück 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 inBerlin from September 18-22, 2017. The goal of the course is to teach the course participants both theory and application of methods to identify pathogenic variants/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, PhlyoP, Polyphen, SEQLinkage, Variant Mendelian Tools,).  Topics which will be covered at the course 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, vcf file annotation; generation of NGS data; 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 ofCologne).

Application Deadline June 12st, 2017
For a schedule, application form and additional information please visit the course webpage.


The ESHG condemns move to impose obligatory genetic testing for employees in the USA.

A Bill that would allow companies to require employees to undergo genetic testing and disclose the results to their employers, or risk having to make health insurance payments of thousands of dollars extra, was recently approved by the US House of Representatives Committee on Education and the Workforce, with all 22 Republicans supporting it and all 17 Democrats opposing. 
Genetic tests can predict health risks. In the US, where companies cover significant parts of the health insurance of their employees they may, understandably, want to minimise these risks. In the past, however, decisions on whether or not to undergo genetic testing have been the voluntary choices of individuals. Both the Council of Europe and the US law (Genetic Information and Non-Discrimination Act, GINA) uphold this standpoint.

The European Society of Human Genetics (ESHG) defends the principle that employees should be employed on the basis of their skills and expertise, and not on their future health risks. This Bill has apparently been integrated into the activities related to the revision of the Affordable Care Act, otherwise known as Obama Care. Transparency is needed on the potential decision to discontinue the GINA. The genetic and health information of individuals needs protection,” said Professor Martina Cornel, chair of the ESHG Public and Professional Policy Committee.

Genetic Association Course With Application to the Analysis of Sequence and Genotype Data

June 26-30, 2017
Max Delbrück Center (MDC) for Molecular Medicine
Berlin, Germany

The eight Annual Berlin Genetic Association Course will be held at the MDC in Berlin from June 26-30, 2017. The goal of the course is to teach course participants both theory and application of methods for population based association analysis, with a concentration on the analysis of exome and whole genome sequence and genotype data.Emphasis in this course is on strategies for genetic mapping of complex human traits. It will include theory as well as practical exercises. The exercises will be carried out using a variety of computer programs (PLINK, GenABEL, MACH, UNPHASED, EIGENSTRAT, Variant Association Tools (VAT), SEQPower and R, etc.). Topics covered include: Association analysis of qualitative and quantitative traits; single marker and haplotype analysis; analysis of whole genome association study data; complex trait rare variant association analysis of next generation sequence data; data quality control for genotype and next generation sequence data; haplotype reconstruction; controlling population admixture (genomic control, principal components analysis, etc); imputing genotype data from sequence and genotype data; detecting gene x gene and gene x environmental interactions; power and sample size estimation for both genotype and rare variant data; permutation (estimating empirical p-values); and false discovery rate (FDR). The organizers and instructors for the course are Suzanne Leal (Baylor College of Medicine) and Michael Nothnagel (University of Cologne).For additional information, a course schedule and application form please visit the course website.  https://statgen.research.bcm.edu/index.php/Genassoc2017Application Deadline May 1, 2017

Complex Trait Analysis of Next Generation Sequence Data

March 6-10, 2017
Max Delbrück Center (MDC) for Molecular Medicine Berlin, Germany
The Complex Trait Analysis of Next Generation Sequence Data course will be held at the MDC in Berlin from March 6-10, 2017. The goal of the course is to teach the course participants both the theory and application of methods to analyze next generation sequence (NGS) data for human complex traits. Attendees will learn how to design studies, call variants from NGS data, analysis of population-, trio- and family-based sequence data and evaluation of variant functionality. Analyses will include performing complex trait rare variant association analysis for population and trio data. Exercises will be carried out using a variety of computer programs (GATK, IGV, Polyphen2, PSEQ, SEQPower, and Variant Association Tools (VAT)). TOPICS will be include: sequence alignment, calling variants from NGS data, quality control of NGS data, association testing framework for quantitative and qualitative traits, rare variant association methods, estimating power and sample size for rare variant association studies, imputation of rare variants and their analysis, detecting putative causal variants for complex traits and evaluating variant functionality.
The instructors for the course are Suzanne Leal (Baylor College of Medicine) and Michael Nothnagel (University of Cologne).
Application Deadline January 5, 2017

For additional information, the schedule and application form - please visit the course website:  https://statgen.research.bcm.edu/index.php/ComplexNGS2017

Core Management Workshop; Dublin. November 9-10.


A few spaces are still available for the Core Management Workshop, 9-10th November 2016. Trinity College Dublin, Ireland
The Cytometry Society of Ireland is hosting the Core Management Workshop on November 9-10th  2016. This workshop is intended for Shared Resource Lab Scientists and Core Managers from diverse disciplines (microscopy, flow cytometry, genomics, proteomics, comparative medicine etc.) to  come together and discuss common concerns: managing successful facilities, training and education, funding, charging, scheduling, collaborations, as well as discuss research and technology innovations in different fields. 

Speakers include: 
·         Jonni Moore, University of Pennsylvania, US
·         Rachael Walker, Babraham Institute, Cambridge, UK
·         Derek Davies The Francis Crick Institute, London, UK
·         Ian Brewis, Cardiff University, UK
·         Gill Marmelstein, Trinity College Dublin, Ireland
·         Michael Kapinsky, Beckman Coulter
·         Andrew Filby, Newcastle University, UK
·         Lorenzo Pastrana, International Iberian Nanotechnology Laboratory, Braga, Portugal
·         Emmanuel Reynaud, University College Dublin, Ireland
·         Matthias Wilms, University College Dublin, Ireland
·         John Tigges, Beth Israel Medical Center, Harvard University, Boston, US

The workshop is limited to 50 delegates

For registration: https://cmw-dublin.eventbrite.co.uk       
  


Dublin Visitor Information: http://www.visitdublin.com/home


For any questions contact: alfonso.blanco@ucd.ie