When the year ends it is a good time to look back and review the challenges achieved in the last twelve months. More than 1,300 scientific articles, of which 550 are led by IDIBELL, show that there many objectives have been achieved, but there are also many questions that remain to be answered.

We work from the four IDIBELL research areas (Cancer, Regenerative Medicine, Neuroscience and Translational Medicine) to improve people’s quality of life. Laboratory and clinic go hand in hand to be able to learn about the real problems of patients, and to be able to transfer new knowledge quickly to day-to-day clinical practice. Below, we present what is just a selection of the challenges achieved in 2021. You can find more information in the news section of the institutional website.

Cancer

A study with the participation of Dr. Josep Maria Piulats, from the Cancer Immunotherapy research group, published in the prestigious The New England Journal of Medicine has presented a new drug to treat metastatic uveal melanoma. This is a very aggressive cancer that unfortunately causes death in less than a year in one of every two patients. This drug, a modulator of the immune system to recognize and attack tumor cells, has been shown to increase the overall survival of this disease and is already being used in clinical practice.

Also, in relation to the balance between the immune system and cancer, the infiltration of immune cells within tumors helps their elimination. In this sense, a study published in Nature with the participation of the Breast Cancer research group has shown that breast cancer cells create collagen shields to protect themselves from the immune system. In addition, the work also shows that blocking the formation of these barriers using specific antibodies can significantly inhibit tumor growth.

Regenerative Medicine

A research team from IDIBELL in collaboration with the Center for Genomic Regulation has successfully promoted the formation of pancreatic beta cells in mice. The results have been possible thanks to the identification of a fundamental gene for the regulation of the number of insulin-producing cells during the embryonic development of the pancreas. The findings, published in the journal Genes and Development, may drive future treatments for the disease.

To balance gene expression between XX females and XY males, one of the female’s X chromosomes is inactivated. The Stem Cell Aging research group has found that this inactivation is impaired in aging bone marrow stem cells. The study, published in Stem Cell Reports, also suggests that impaired inactivation of the female X chromosome could be related to a group of blood cell cancers.

Neurosciences

A genetic study of more than half a million patients with participation from the Psychiatry and Mental Health group has identified two new variants related to the risk of suicide attempt. In addition, for the first time, one of the identified variants is not related to psychiatric disorders and would be contributing to it through other factors such as smoking, insomnia, or the propensity to take risks. These discoveries help to clarify the biological mechanisms associated with suicide and may help to prevent it in the future.

Photopharmacology is based on the development of light-sensitive drugs that allow us to activate them where and when we decide, and with the necessary intensity. The Neuropharmacology and Pain research group has devised two treatments based on this innovative technology: a non-additive derivative of morphine and a new treatment for psoriasis.

An investigation in which the Neurological and Neurogenetic Diseases group has participated has developed automated voice markers to identify early affectations of amyotrophic lateral sclerosis. To carry out this project, the voices of patients from the Functional Unit for Motoneuron Disease of the Bellvitge University Hospital were recorded for six months in order to have enough data to later develop models that would allow early detection of swallowing and speech problems.

Translational medicine

A natural compound with antioxidant properties, L-ergothioneine, has been designated as an orphan drug for the treatment of cystinuria by the European Medicines Agency (EMA). Studies carried out by the Human Molecular Genetics research group have shown in a murine model of this rare disease that L-ergothioneine could prevent the formation of cystine stones in the kidney and urinary tract characteristic of this pathology or delay its appearance.

COVID-19

In the time that we have been living with COVID-19, we have seen that it can cause a wide variety of symptoms: while there are people who overcome the coronavirus infection with mild symptoms, there are others whose associated complications force them to be admitted to the hospital under surveillance. Factors such as advanced age, being male, or suffering from certain chronic respiratory or cardiac pathologies seem to be determining factors in suffering a worse evolution of the infection and presenting serious complications. However, many other factors remain to be discovered to explain why certain younger people without these risk factors can suffer a very serious COVID-19.

Getting to accurately predict how patients will evolve could help to carry out early interventions, optimize vaccination programs and ultimately use more effective personalized strategies.

Several studies carried out at IDIBELL have focused on the immune response to the virus as a determining factor to predict its evolution. On the one hand, the sequencing of the TLR7 gene in 14 young men with no medical history who had suffered from severe COVID-19 has revealed the presence in two of them of genetic variants that affect the immune response. Also, IDIBELL researchers verified that the presence of a high number of repetitions of a specific amino acid in the testosterone receptor is related to a worse clinical course of COVID-19. On the other hand, during the description of epigenetic factors that were associated with a worse prognosis, it was seen that these modifications occur mainly in genes associated with an excessive inflammatory response.