Genetics Working Party

Genetics WP - October 2021

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Dear ESID members,

The ESID Genetics WP plans, together with the molecular testing working group (WG) of ERN RITA, to organize a 2-day mini-symposium: “From high throughput sequencing to diagnosis”, in Spring 2022 at the Imagine Institute (Necker Hospital, Paris, France). We will have the possibility of a hybrid meeting: we will be more than happy to welcome you either online or in person.

We will discuss exciting advances in genetics and the challenges we are facing as a patient-oriented and inborn error of immunity (IEI)-oriented society: how to improve patients’ genetic diagnostics, for whom personalized and successful therapeutic approaches are based on their molecular diagnosis. To address these challenges and educate young researchers and clinicians working in the field of IEI, the course will focus primarily on:

- Novel sequencing techniques, molecular approaches and data analysis tools to solve patients’ diagnosis; different innovative methods such as (single cell) RNA seq, WGS, long read sequencing, and their implication in clinical practice will be discussed.

- Tools and strategies appropriate for IEI: among others, how to evaluate mosaicism, copy number variations (CNV), digenic inheritance, or epigenetic regulation; how to explore clinical relevance of genes and variants with the use of Clinical Genome Resource (ClinGen) and the Human Phenotype Ontology (HPO) as sources of validated and standardized genetic data and vocabulary of phenotypic abnormalities, and the development of artificial intelligence (AI) in IEI discovery.

- The importance of functional validation of the genetic findings: which strategies can be followed to prove that a DNA variant is indeed disease-causing and has molecular, cellular, and clinical implications, and presentation and discussion of unsolved cases. Development of guidelines for variant identification and functional validation.

-  The patients’ perspective and involve patient societies such as the RITA patient advisory group (RIPAG) and the international patient organization for primary immunodeficiencies (IPOPI): how to engage patients in the design of research to reduce non-compliance, the impact of identifying genetic information on patients and their families, or the use and gathering of genetic data.


The workshop will involve long-standing experts as well as young clinicians and researchers using next-generation sequencing in their daily research or practice.


At the ESID GWP we are fully committed to our patients, community, and goals:

Connect and support the collaborative work between clinicians, geneticists, & researchers

Facilitate access to information for patients’ genetic evaluation

Improve the diagnosis of known and novel IEI and genetic counseling for patients

Paving the way for the development of adapted immuno-therapeutical strategies and better patients’ support and care

…and we expect YOU to join us to achieve them!

If interested, please contact the ESID GWP chair/steering committee of the Genetics WP