Genetics Working Party
Genetics WP - Newsletter December 2017
by Kaan Boztug
Dear colleagues and friends,
With the end of the another succesful year approaching, I am pleased to give you a short update of the ESID Working Party Genetics.
Due to the expanding technological advances of genetics and genomics tools, used to identify underlying cause of the monogenic PID etiologies, we have introduced changes to ESID Working Party Genetics (WPG) by forming several expert steering committees that will tackle various evolving topcis in the field. The most important challenges we will be dealing with are: the development of novel NGS technologies, expanding and reorganizing the immunodeficiency-related HPO (Human Phenotype Ontology) terms and incorporating it in datasharing platforms and ESID registry. Moreover, a special diagnostics-focused steering commeetee was formed with the core task to deliver their experiences in PID diagnostic strategies by providing specific diagnostic guidelines and evaluating country-based laws in financial reimbursement of genetic examinations through health insurances.
A group of NGS experts from the Norwegian Sequencing Center and and the Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases have formed a steering commetee to share technological skills in respect of new sequencing platforms, developing pipelines for identifiying copy-number variations in the patients and establishing epiginome profiling in the PID patients. An important joint-effort was made towards organizing a multidisciplinary steering group composed of bioinformaticians, clinicians and scientists working together to optimize HPO terminology that can be applicable to any datasharing platform and that will greatly facilitate a cross-comparison of patient’s phenotypes between different hospitals and research centers. These activities will be done in synergy with the ERN RITA. The importance of datasharing platforms was discussed on this years ESID conference in Glasgow with a positive feedback from the PID field community, which gives us an additional bust that ESID WP Genetics is on the right path.
In the course of 2018, the ESID WP Genetics will focus on keeping up and spearheading the above-mentioned activites to navigate the WP Genetics efforts. The next Working Party meeting will take place in the in late sprin/early summer 2018, and we will be very happy to report to you the progress and focus of our activities soon after – should you not have done yet but have additional ideas that you would like to contribute to this effort, please do not hesitate to get in touch with me ( .
I am looking forward to many fruitful collaborations and discussions!
With kind regards to the ESID community,
Chairman ESID Working Party Genetics