Meet the team

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Dr. Andres Caballerowww icon

Project lead, biocurator & developer

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Dr. Laura Crisponiwww icon

Geneticist, biocurator

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Dr. Xiao Pengwww icon

Geneticist, biocurator

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Prof. Michele Proiettiwww icon

Project lead & supervisor

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Contributors and collaborators

Alexandra Freeman

Bodo Grimbacher

Cristina Gloecker

David Fuchs

Elena Sindram

Gasper Markelj

Giulio Tessarini

Hanna Haberstroh

Jana Pachlopnik

Julia P. Silva

Jessica Rojas

Mate Krausz

Nele Viehmann

Nermeen Galal

Laura Battle Maso

Laura Gamez

Stefano Giardini

Stefano Volpi

Tiziana Lorenzini

Virginia Andreani

Our mission

This resource is intended to catalog all the research literature on the genetic basis of Inborn Errors of Immunity in a structured manner, and to summarize the genetic paradigms that we have learnt from our patients. We provide a sanity check about the assumptions we make when evaluating for genetic causes of a suspected IEI.

By linking genetic mechanisms to disease- and/or locus-specific considerations, we hope to provide a practical guide for providers that may help them strategize when performing genetic testing, interpreting genetic test results and/or providing genetic counseling.

Why GenIA?

"Where does a wise man hide a leaf?" asked Father Brown, G. K. Chesterton's fictional detective, in 1911. "In the forest."

It is becoming increasingly challenging to keep up with the ever-expanding gene space of inborn errors of immunity (IEIs) and the genetic paradigms these are introducing or reinforcing. With the monogenic IEIs, even very robust and highly suggestive clinical phenotypes may be associated with negative or equivocal clinical genetic testing. In these situations, we often find ourselves asking the question: "It is hiding in plain sight? Is it not there or did we just not find it?". Thus, a negative genetic testing report is often just the beginning of an iterative diagnostic process.

Some of the reasons we may fail to detect a disease-causing change are inherent to the limitations of current technology, while others may be knowledge-based. In terms of the latter, we have limited control over the pace at which new variants, genes and disorders are discovered. It is always gratifying when an IEI patient is able access and be brought to medical attention, receive molecular diagnosis, and then have their story shared with the greater biomedical community. However, there are likely many more individuals out there we may never meet or learn from.

Consulting service

Do you need advise? Do you have a specific research question or project?

Arrange a consultation with one of our genetic experts!

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