ISHG 2018 - Call for abstracts!


We are now accepting abstracts for the 2018 Irish Society of Human Genetics conference to be held at Croke Park, Dublin on Friday, 21st September.  The abstract submission form can be downloaded here.  


The closing date for abstracts is Friday 8th June 2018.

I am also delighted to announce our plenary speakers for the conference; John Greally from Albert Einstein College, New York and Eamonn Sheridan of the University of Leeds.



Save the date!


The 2018 ISHG Conference will take place in Croke Park, Dublin, on Friday the 21st of September. 

Further details will follow shortly.

2017 ISHG Conference Programme

Dear Colleagues

The programme for the 2017 ISHG meeting to be held at Croke Park on Friday September 15th is available here.

A reminder that early bird rates are available up to 28th August.

Gianpiero Cavalleri
Secretary, ISHG

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:
• Standard rate (after 28th August): 60 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):
• Standard rate (after 28th August): 115 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

ISHG (post 28/08)
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.