Comment: Whole exome sequencing finds genes associated with autoimmune platelet disorder in children

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Published: 5 Dec 2015
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Dr Wendy Stock - University of Chicago, Chicago, USA

Dr Stock talks to ecancertv at ASH 2015 about the results of a study that looked for genes that may be involved in the development of chronic immune thrombocytopenia (ITP) in children using whole exome sequencing.

Historically, chronic ITP has not been thought of as a genetic or inherited disease but the study’s findings, presented by Dr Jenny M. Despotovic - Texas Children’s Cancer and Hematology Centers, Houston, USA, showed that genetic anomalies can be found in children with the disorder. These anomalies included changes in the gene encoding interferon-alpha 17, which is involved in the activation of regulatory T cells and TGF-β signalling.

The hope is that the findings will help researchers understand ITP biology better to enable the identification and stratification of patients and improve treatment by avoiding unnecessary toxicity.

Read the news story and watch the press conference for more information.

ASH 2015

Comment: Whole exome sequencing finds genes associated with autoimmune platelet disorder in children

Dr Wendy Stock - University of Chicago, Chicago, USA


Jenny Despotovic was giving a very interesting talk there in which she used whole exome sequencing. What was she finding and why do you think her results are important?

It was fascinating because we’ve never known the basis for auto-immune phenomena, particularly this one which is auto-immune thrombocytopenia. What she found in her study was that using this whole exome genome sequencing approach she found specific variants within the genome in children with the chronic form of immune thrombocytopenia who had specific variants in genes that, interestingly, regulate immune response. Because this is a disease of aberrant or overactive immune response she found that these children with chronic ITP had predisposition genes that deregulate the immune system and maybe are the basis for the resistance, first, potentially for the development of the disease but also for the fact that these patients were particularly resistant to the current therapies because these genes predispose to constant immune activation potentially.

So you feel that the fact that this throws light on the understanding of the biology of ITP might be one of the big take-homes from this?

It’s very fascinating that, as maybe suspected but never shown previously, the immune system plays a tremendous role in the development of these diseases but now we have evidence that it’s actually potentially an inherited predisposition to the aberrant immune activation that both, maybe, causes the disease but also results in the constant recurring nature of the disease in a small subset of children.

Do you think this could give clinicians some insight into preventing platelet destruction?

Yes, I think potentially it could because some of the genes that she identified with variations that result in aberrant activation can be potentially modulated with immunosuppressive agents.