Genetics Working Party
Genetics WP - Newsletter March 2015
by Kaan Boztug
As being the new chairman of the ESID Working Party Genetics, I am pleased to introduce myself. I work with a dual appointment as Principal Investigator at the CeMM Research Center for Molecular Medicine of the Austrian Academy and the Department of Paediatrics and Adolescent Medicine of the Medical University of Vienna. My research group is focused on the identification of known and novel genetic aetiologies and the relevant pathophysiologic mechanisms underlying primary immunodeficiencies, with a focus on diseases with predominant autoimmunity/autoinflammation and neutrophil defects.
With the majority of PIDs caused by monogenetic defects, the ESID community has had a long-standing history of performing superbly in (i) identifying the underlying genetic etiologies for different molecularly defined PIDs and (ii) using that genetic knowledge to study molecular pathomechanisms explaining the immunological and clinical phenotype to (iii) classify diseases, perform natural course of disease studies and characterize the phenotypic range of the various PIDs to (iv) use that knowledge to devise the need for therapeutic intervention and develop more specific („targeted“) therapies for defined disease entities (e.g. gene therapy, off-label use of established drugs such as rapamycin for activating PIK3CD mutations and many more).
The entire field of genetics and genomics has been transformed in recent years by the advent of novel sequencing technologies, in particular so-termed „next generation“ DNA sequencing technologies. Various ESID working groups have been particularly successful in recent years to use these technologies to more efficiently identify novel and known disease entities. Nonetheless, there are several challenges the ESID community is facing and which the ESID Working Party Genetics will tackle in the upcoming term of office which are specified in the aims section.
Specifically, the missions which I would like towards as head of ESID Working Party Genetics are:
- To enhance basic knowledge on sequencing technologies amongst more clinically oriented researchers or physicians primarily taking care of such disease
- To enhance basic knowledge on bioinformatic processing of NGS data to enable a large community to handle and interpret such data along with proficient bioinformaticians
- To enable access to NGS sequencing facilities for groups from countries with fewer ecomomic resources
- To work towards implementation of NGS-based approaches for diagnostic use for identification of PIDs (within the different legal framework in different countries)
- To create concepts which allow for secure data sharing of data on known genetic defects and novel genetic defects (or even patients which have been sequenced without a clearly identified causative mutation) across participating European centers (possibly allowing for data sharing with non-European Centers in a second step)
- To collaborate closely with the ESID Registry and the Clincal Working Party to link phenotypic and immunological data with genetic data to enable larger collaborative studies
To work towards these aims, the Working Party Genetics will not only set up even closer ties with the other ESID Working Parties, but also organize a Working Party meeting this Spring/Summer to define action items to work towards the aims outlined above to ensure that the Working Party will fulfil its mission to realize the full potential of genome-based medicine approaches for PIDs. We are looking forward to everyone’s contributions during these exciting times for genetics and genomics!
With kind regards to the ESID community,
ESID Working Party Genetics Chairman