28 February 2017 marks the tenth international ‘Rare Disease Day’. The day serves to raise awareness around the research taking place on rare diseases. Luxembourg is active in the field of rare diseases, specifically with a newly-launched project at the LIH, researching Good’s Syndrome, a rare disease with only a few hundred described cases worldwide.
Good’s Syndrome (GS), is a rare disease defined as an adult-onset immunodeficiency accompanied by a tumour in the thymus, a thymoma. The disease leaves patients very susceptible to many types of infections, mainly of the sinus and lungs. They also suffer from autoimmune syndromes and chronic diarrhoea. The survival rates are 70% 5 years after diagnosis and 33% 10 years after diagnosis, with severe infections being the main cause of death due to delayed diagnosis. The cause of the disease is currently unknown.
To better understand the disease, the FNR and LIH are supporting an exploratory research project, titled ‘Immunodeficiency with autoimmunity: unravelling the molecular origin of Good’s syndrome’ (GOODSYN). The project consortium is led by the Department of Infection and Immunity of the Luxembourg Institute of Health’s (LIH) Dr Jacques Zimmer, MD, PhD, and Prof Markus Ollert, MD.
The aim of the project is to carry out in-depth investigations on the white blood cells of GS patients to a degree never done before, as well as to identify genetic or epigenetic factors* that may be involved in the pathogenesis of the disease.
The project will help advance the understanding of the disease, and it is hoped it will help uncover what goes wrong on molecular and cellular levels in GS. The project will also generate important data beyond the GS context, regarding the knowledge of primary immunodeficiencies, susceptibility to pulmonary infections, and autoimmunity.
*modifications that affect what genes are turned into functional proteins, not modifications in the genes themselves.