Photo of the micro-talks of the previous edition.

Reus, September 23, 2024. Researchers from the Pere Virgili Health Research Institute (IISPV), the Universitat Rovira i Virgili (URV) and other research centres in the Tarragona region (Institut Català de Recerca Química -ICIQ-, the Catalan Institute of Classical Archaeology -ICAC- and the Catalan Institute of Human Paleoecology and Social Evolution -IPHES-) will take part in the “microxerrades de la ciència” (scientific micro-talks) “Research for Change” on Thursday 26th September at 6pm at firaReusEvents in Reus.

This initiative, promoted by the IISPV with the collaboration of all these institutions and the City Council of Reus (Department of Economic Promotion, Innovation and Knowledge and Reus Economic Development -Redessa-), aims to disseminate science to the public. The presentations scheduled (each lasting 10 minutes) are as follows:

The importance of childhood nutrition in the prevention of obesity”, by Verónica Luque, researcher at the Pediatric, Nutrition and development Research Unit (PEDINUR) of the IISPV and the URV.

“The role of psychology in public health”, by Carlos Gómez Martínez, pre-doctoral researcher in the Food, Nutrition, Development and Mental Health Research Group (ANUT-DSM) of the IISPV.

Pros and cons of storing information in the cloud”, by German Telmo Eizaguirre, PhD student in the Cloud Computing Research Group Cloudlab at the URV.

Transforming waste into polymers for a more sustainable future”, by Marc Palà, pre-doctoral researcher in the Sustainable Polymers Research Group (SUSPOL) at the URV.

Sarcopenia, an obstacle to healthy ageing”, by María de la Sierra Besora Moreno, postdoctoral researcher in the Functional Nutrition, Oxidation and Cardiovascular Disease Research Group (NFOC-SALUD) of the IISPV and the URV.

Human fossils in Italy: Altamura and other stories”, by Costantino Buzi, researcher at the Catalan Institute of Human Paleoecology and Social Evolution (IPHES).

Life behind the clock or the clock behind life”, by Aleix Ribas, researcher at the Diabetes and Associated Metabolic Diseases Research Group (DIAMET) of the lISPV.

Rapid diagnosis as a tool to fight antibiotic resistance”, by Beatriz Prieto Simón, ICREA researcher and group leader at the Catalan Institute for Chemical Research (ICIQ).

Creativity and leadership to improve the lifestyles of the elderly and young people in rural environments”, by Claudia Jiménez ten Hoevel, pre-doctoral researcher at the NFOC-SALUD of the IISPV and the URV.

Admission is free and open to all citizens.

Dr Sonia Fernández-Veledo, head of the Diabetes and Associated Metabolic Diseases (DIAMET) research group at the IISPV

Dr Sonia Fernández-Veledo, head of the Diabetes and Associated Metabolic Diseases (DIAMET) research group at the IISPV and coordinator of the Metabolic Diseases and Nutrition research area at the same institute, has recently been appointed deputy scientific director of CIBERDEM (Centre for Biomedical Research Network on Diabetes and Associated Metabolic Diseases).

CIBERDEM brings together 29 research groups from all over Spain that are leading studies and projects in the field of diabetes and related diseases. CIBERDEM brings together research groups with different profiles and skills (both clinical and basic), made up of professionals from hospitals, research centres and universities. The research is therefore fundamentally multidisciplinary, collaborative and diverse, with the aim of contributing to improving the health of people with diabetes.

Reus, 21 June 2024. In general, genetics plays a very important role in the development of mental illnesses. In the case of schizophrenia or bipolar disorder, for example, it is estimated that 80% of the factors involved are genetic, with the remaining 20% having to do with the environment in which we live. The World Health Organization (WHO) warns that one in four people will suffer from a psychiatric disorder during their lifetime.

The Research Group on Genetics and Environment in Psychiatry (GAP) of the Pere Virgili Health Research Institute (IISPV) and the Pere Mata University Hospital has been studying the genetics of mental illness for more than three decades and has now received a grant of almost 1,700,000 euros from the Carlos III Health Institute (Spanish Ministry of Science and Innovation) to continue this line of research. This financial boost will allow them to launch the project, known as CESPED, which aims to develop a new clinical screening protocol to better detect and personalise a type of alteration consisting of the loss or gain of genetic material, which is often the cause of psychiatric diagnoses.

The screening protocol that this team of researchers will use will include parameters that have not previously been considered by psychiatric professionals and that are related to this change. This protocol will also be based on other medical conditions, such as whether the person suffers from heart problems, has a deficient immune system or whether the level of calcium in the blood is higher than normal. In addition, the shape of the face and the composition of its elements will be taken into account, as unusual facial features (eyes that are too far apart or a deformed lip or ear) could indicate the presence of this disorder. Finally, an inexpensive genetic test will be added to the screening tool. With all this data, researchers will be able to assess the likelihood that the patient is a carrier of a loss or gain of genetic material.

It is estimated that about 4% of people with a severe psychiatric diagnosis carry one of these genetic variants that explain their illness. If the risk is high, the research team will recommend that the patient be assessed in a clinical genetics unit and facilitate referral to this service.

In the future, this genetic information will allow psychiatrists to diagnose and treat some of the most common disorders, such as autism spectrum disorders, ADHD (attention deficit hyperactivity disorder), bipolar disorder, schizophrenia and other psychoses, earlier, more effectively and in a more personalized way.

The research team that will carry out this study is coordinated by Dra. Elisabet Vilella, director of Research at the Institut Pere Mata University Hospital and Deputy Director of the IISPV and is made up of 17 research groups from hospitals all over Spain. Twelve of these groups are part of the prestigious mental health research network CIBERSAM, funded by the Instituto de Salud Carlos III. In addition, the Clinical Genetics Unit of the clinical laboratory of the Catalan Institute of Health Camp de Tarragona and Terres de l’Ebre (located at the Joan XXIII University Hospital) has been added to the study, which will participate in the project intervening in diagnosis and genetic counseling, and developing continuous training for mental health professionals in order to facilitate the identification of possible cases. In addition, it will identify cases that deserve to be referred to the respective clinical genetics units for advice.

The Clinical Genetics Unit

The Clinical Genetics Unit of the Joan XXIII University Hospital begins its first steps in 2019 to respond to the needs of patients with minority diseases and to the demand of healthcare professionals to advance in the field of diseases with genetic basis and personalized medicine. During those years, this multidisciplinary unit, made up of people with different professional profiles, has been consolidating and is presented in society practically at the same time as this important collaboration with the Pere Mata Institute.

This scientific collaboration between mental health teams and the Clinical Genetics Unit may highlight the future need for multidisciplinary teams to detect, identify and follow up people with genetic variants implicated in their psychiatric diagnosis.

Image of intestinal recession in a Crohn’s patient.

Tarragona, June 20, 2024. 0.4% of the population in Spain (about 300,000 people) suffers from Crohn’s disease, according to the Confederation of Associations of Crohn’s and Ulcerative Colitis Patients of Spain (ACCU). Every year 3,500 cases are diagnosed. It may seem like an unrepresentative percentage, but the consequences for the health of these patients are enormous: it is a chronic disease; In many cases, it completely limits the life of those who suffer from it and 50% must undergo surgery in the first 10 years of receiving the diagnosis to undergo an intestinal resection, a very aggressive surgical intervention that involves removing the damaged piece of intestine. . On the other hand, it is one of the main causes of school absenteeism (an average of 3 months) and depression among the adolescent population.

Crohn’s is part of the so-called inflammatory bowel diseases (like ulcerative colitis). It causes severe abdominal pain, diarrhea, fatigue, nausea, bleeding, etc., which also ends up impacting the emotional health of those who suffer from it.

The study of this disease is therefore essential to contribute to improving the quality of life of these people. In this sense, the Inflammatory Bowel Diseases Research Group (IBODI) of the IISPV, the Joan XXIII University Hospital of Tarragona and the URV, has led research that has made a revolutionary discovery possible: it has identified, for the first time, the genes that are altered in the stem cells of the fat or adipose tissue that borders the damaged intestine of these patients. This alteration causes the natural functions of these cells to be disabled, thus weakening the intestine and promoting inflammation. Adipose tissue therefore has a key function for the good health of this organ, since it protects it from adverse conditions such as those described previously.

Specifically, the IBODI research group, led by Dr. Carolina Serena, has identified 2 altered genes that play an important role in Crohn’s disease: MAB21L2 and CACNA1H. The MAB21L2 gene is directly associated with patients who suffer from the disease (it is more active in their adipose tissue), and CACNA1H is more linked to patients who had previously suffered flares, but who have managed to stabilize and not have more relapses (they have it in a state of remission). This finding has been made in collaboration with the High Content Genomics and Bioinformatics Unit of the Germans Trias i Pujol Institute, the Colorectal Surgery Unit of the Valle Hebron Hospital in Barcelona and the Diabetes and Associated Metabolic Diseases Research Group (DIAMET) of the IISPV.

Another of the significant discoveries of this IISPV study refers to these latter patients: it has been found that the stem cells of their adipose tissue retain the memory of inflammation. In this sense, Dr. Carolina Serena explains: “If we can better understand how adipose tissue stem cells are affected by inflammation and how they maintain this inflammatory memory, we could develop more effective therapies that not only treat the symptoms, but “They also stop the progression of the disease and improve the quality of life of patients.”

Cutting-edge technology

For this study, cutting-edge technologies in the field of research have been used, such as so-called omics, thanks to which it has been possible to obtain a huge volume of information with very precise data. These advanced tools make it possible to study diseases with very careful results with samples of patients that are not too large: for this research, for example, 30 people (healthy and with the disease) have been evaluated.

Bibliographic reference: Article: D. Monfort-Ferré, A. Boronat-Toscano, J.F. Sanchez-Herrero, A. Caro A, M. Menacho, I. Vañó-Segarra, M. Martí, B. Espina, R. Pluvinet, L. Cabrinety, C. Abadía, M. Ejarque, C. Nuñez-Roa, E .Maymo-Masip, L. Sumoy, J. Vendrell, S. Fernandez-Veledo, C. Serena (AC). Genome-wide DNA methylome and transcriptome profiling reveals key genes involved in dysregulation of adipose-stem cells in Crohn’s disease. Journal of Crohn’s and Colitis. https://doi.org/10.1093/ecco-jcc/jjae072.

Section of a pancreas with different fluorescent colors to visualize hormone-producing cells, with beta cells in green.

Tarragona, June 17, 2024. In Spain, 25% of the population either has diabetes or is in a previous or initial state of the disease, according to data from the Di@bet.es study, led by CIBERDEM and financed by the Institute of Health Carlos III. Type 2 diabetes is the most common form of this disease (it accounts for 90-95% of diagnosed cases). On the one hand, it is characterized by a resistance to insulin (the hormone that regulates sugar or glucose levels in the blood), and, on the other, because the beta cells of the pancreas have difficulty producing it. This causes an imbalance in our body that, if not controlled, can cause diverse and severe health problems.

To understand and treat diabetes, studying the beta cells of the pancreas is essential. When we eat, glucose levels increase, and to compensate, these cells release the hormone insulin, which facilitates the transport of sugars into metabolic tissues (muscles, liver and adipose tissue) by sending a signal to them. These sugars are stored in these tissues so our body can use them as energy reserves when necessary. In the case of people with type 2 diabetes, insulin resistance causes the body’s cells to be unable to use it properly, leaving glucose circulating in the blood and causing this decompensation.

The Diabetes and Associated Metabolic Diseases Research Group (DIAMET) has made a discovery that represents a turning point in the approach to the disease: these researchers have found a new mechanism that could help improve the secretion of insulin and that, therefore, would favor blood sugar control in people with diabetes. This mechanism involves a substance called succinate and its receptor (known as SUCNR1), which is found in the beta cells of the pancreas.

The work has been carried out in collaboration with prestigious national institutions (UB-IDIBELL and UMH-IDiBE, among others) and international institutions (Harvard University and the National Research Council of Italy, for instance).

What is succinate?

Succinate is a natural compound present in our cells that plays an important role in energy metabolism. Traditionally, it has been associated with situations of cellular stress, such as those that occur in obese patients. This discovery shows that succinate can act as a beneficial signal that helps beta cells in the pancreas to release or secrete insulin, thereby regulating blood glucose levels.

“We discovered that the level of the SUCNR1 receptor increases in conditions of high blood sugar and metabolic deterioration, such as in obesity and diabetes. When succinate binds to this receptor, a process is activated that enhances insulin secretion. This is especially important after eating, when blood sugar levels are higher and the body needs more insulin to process this sugar,” explains Dr. Joan Sabadell-Basallote, for this DIAMET study (group led by Dr. Sonia Fernàndez-Veledo and Dr. Joan Vendrell).

This discovery opens the door to new strategies to treat diabetes, focusing on this mechanism to improve insulin secretion and help keep blood sugar levels under control. This discovery represents hope for people fighting this chronic disease.

The Diabetes and Associated Metabolic Diseases Research Group (DIAMET)

Type 2 diabetes and obesity

This type of diabetes is closely related to obesity, as excess body fat contributes to insulin resistance. As a person gains weight, their cells become less sensitive to insulin, forcing the pancreas to produce more of it to maintain normal blood sugar levels. Over time, this constant effort can deplete the beta cells, reducing their ability to produce insulin, which contributes to the onset of type 2 diabetes.

The number of people diagnosed with type 2 diabetes is increasing year after year worldwide: according to the International Diabetes Federation, around 500 million adults suffer from it and in 20 years this number is expected to exceed 700 million. This increase is attributed to factors such as the population aging, the rising obesity rates, and sedentary lifestyles.

Bibliografic reference: Sabadell-Basallote J, Astiarraga B, Castaño C, Ejarque M, Repollés-de-Dalmau M, Quesada I, Blanco J, Nuñez-Roa C, Rodríguez-Peña MM, Martínez L, De Jesus DF, Marroqui L, Bosch R, Montanya E, Sureda FX, Tura A, Mari A, Kulkarni RN, Vendrell J, Fernández-Veledo S. SUCNR1 regulates insulin secretion and glucose elevates the succinate response in people with prediabetes. J Clin Invest. 2024 May 7:e173214. doi: 10.1172/JCI173214. Epub ahead of print. PMID: 38713514.

It is the result of a study by the IISPV and the Institut Pere Mata University Hospital, and, if the results are corroborated with other patient samples, this discovery could represent an innovation in the approach to this disorder.

he Genetics and Environment in Psychiatry Research Group (GAP) of the Pere Virgili Health Research Institute (IISPV) and the Institut Pere Mata University Hospital (HUIPM).

Reus, May 28, 2024. 1 percent of the adult population in Europe and the United States suffers from schizophrenia (400,000 people are diagnosed in Spain), according to data from the Mental Health Network Biomedical Research Center (CIBERSAM). It is one of the most socially misunderstood mental disorders and, although it is known that it is caused by a combination of various genetic and environmental factors, there are still many unknowns and unanswered questions. Schizophrenia greatly impairs the quality of life of both those who suffer from it and their families and those closest to them.

The Genetics and Environment in Psychiatry Research Group (GAP) of the Pere Virgili Health Research Institute (IISPV) and the Institut Pere Mata University Hospital (HUIPM) has been studying the genetics of this disorder for nearly 3 decades. A recent study by these researchers has made possible a finding in this field that could mean a turning point in its approach. These are alterations in the DNA of the mitochondria, a molecule that plays a primary role in supplying energy to the cells of our body. This genetic component has until now been little studied in mental illnesses, so this discovery highlights the importance of paying attention to it and taking it into account when looking for new treatments and preventive therapies.

Human mitochondrial DNA is a small molecule found within the mitochondria. Mitochondria are responsible for supplying energy to the cells of our body. This mitochondrial function is especially relevant in the case of neurons (brain cells). The high activity of the brain (which, in addition to mental functions, controls the rest of the body: it is fully operational 24 hours a day, even when we sleep) means that this organ requires a lot of energy to function correctly: it consumes almost a quarter of the glucose and oxygen we generate. It is for this reason that mitochondria and this type of DNA are found in abundance.

To carry out this study, published in the prestigious journal Psychiatry Research, 80 postmosterm samples (provided by the University of the Basque Country) were analyzed, both from people with schizophrenia and from others who had not been diagnosed with any mental disorder. It has been found that 35% of people who had a diagnosis of schizophrenia had some alteration of their mitochondrial DNA, while this percentage was significantly lower among people without any mental disorder (10%).

“These discoveries suggest that this alteration in mitochondrial DNA could be one of the genetic factors that play a role in the development of the disease (along with other genetic and environmental factors). To fully corroborate it, it is necessary that the results of this study be validated with other research and larger samples,” explains Dr. Lourdes Martorell, one of the researchers from the GAP group who, together with Dr. Gerard Muntané, has led the investigation. In order to carry out this work, the collaboration of Drs. Javier Meana and Luis Callado from the University of the Basque Country, who, like the GAP research group, is also a member of CIBERSAM and the Rovira i Virgili University (URV).

Previous studies in the field of mitochondrial genetics have led the GAP research group to suggest very innovative therapeutic ways to treat the symptoms of this mental disorder: “We have seen that it could be very helpful to complement the diet of these patients with vitamin supplements and minerals. This, together with physical exercise, could contribute to significantly improving their quality of life,” adds Dr. Martorell. This team of researchers is evaluating the impact of these proposals on patients with schizophrenia and autism through the VITACTIVA’T project.

See other press releases from GAP group studies

Bibliographic reference: High number of mitochondrial DNA alterations in postmortem brain tissue of schizophrenia patients compared to healthy controls. Bengisu K. Bulduk, Juan Tortajada, Alba Valiente Palleja, Luis F. Callado, Helena Torrell, Isabel Vilella, J. Javier Meana, Gerard Muntané, Lourdes Martorell. Psychiatry Research 2024. doi: 10.1016/j.psychres.2024.115928.

• It is the result of a study (called Bipogent) led by the IISPV and the Institut Pere Mata University Hospital, in which patients with this disorder and people without any mental illness, from health centers throughout Catalonia, have participated

The GAP research group, from the IISPV and the Pere Mata Hospital.
The research group of the Hospital Clínic Barcelona.
The research group FIDMAG-Hermanas Hospitalarias (CIBERSAM)

A study led by the Pere Virgili Health Research Institute (IISPV) with professionals from the Pere Mata Institut University Hospital and the Rovira i Virgili University (URV), among others, has made it possible to identify an epigenetic alteration ( in the DDR1 gene) that occurs when adverse conditions are experienced in childhood or adolescence (such as physical abuse, emotional abuse, or neglect of basic care) and the person feels constantly subjected to a state of stress. Although these epigenetic alterations (chemical modifications of the chain of our DNA) are inherent in the transformation that our organism undergoes throughout life, they occur more frequently when we experience situations such as those previously described.

Studies like these are crucial since it had previously been established that one of the triggers of mental illnesses such as bipolar disorder is the wear and tear that involves going through experiences of this type. The identification of this epigenetic alteration adds to similar findings made by researchers around the world, which may represent a turning point in understanding the triggers of the disease and the approach that is taken.

The progress achieved with this study lies in the fact that it can contribute to the fact that in the future (if the results end up being contrasted with other research and more diverse samples), thanks to a simple blood test in the patient with bipolar disorder, can determine the severity of this alteration (analyzing the DDR1 gene) and that, therefore, treatments can be improved considerably, being more personalized and effective.

This study (known as Bipogent) has been made possible by a team of researchers and researchers from the IISPV and the Pere Mata University Hospital (part of the CERCA network of research centers in Catalonia) led by Dr. Elisabet Vilella (she is responsible for the Research Group on Genetics and Environment in Psychiatry, known as GAP, for its acronym) with the collaboration of two research groups from the Centro de

Biomedical Research in Mental Health Network (CIBERSAM): the group led by Dra. Edith Pomarol-Clotet (FIDMAG-Germanes Hospitalárias) and another led by Dr. Eduard Vieta (Hospital Clínic de Barcelona). To carry it out, 128 adults with a diagnosis of bipolar disorder and 141 people without any mental illness participated. They were followed up with clinical and psychological assessments and with the analysis of blood samples: “Without the good disposition and generosity of these participants, the study would not have been possible”, says Dra. Villa.

What is the DDR1 gene and its relationship to bipolar disorder

DDR1 is a gene that performs its function in one of the most important cells in the brain: oligodendrocytes. They are the cells responsible for covering neurons with myelin, a layer composed of lipids that helps information be transmitted more quickly and effectively.

Genes, a key role in bipolar disorder

Previous studies have shown that in 60-85% of cases, the appearance of this disorder (which is estimated to affect 2% of the population) is due to genetic factors, making it a disease with a high risk of being inherited. However, other variables, such as those related to the environment, also play an important role.

The results of this study have been published in the journal Molecular Psychiatry, one of the most prestigious in the field of psychiatry.

Bibliographic reference: Garcia-Ruiz, B., Jiménez, E., Aranda, S. et al. Associations of altered leukocyte DDR1 promoter methylation and childhood trauma with bipolar disorder and suicidal behavior in euthymic patients. Mol Psychiatry (2024). https://doi.org/10.1038/s41380-024-02522-8

Left to right: Dr. Elisabet Vilella, Dr. Selena Aranda, and Dr. Gerard Muntané.

A study led by the Pere Virgili Institute of Health Research (IISPV), the Hospital Universitari Institut Pere Mata and the Center for Biomedical Research in Mental Health Network (CIBERSAM) shows that patients with schizophrenia and bipolar disorder have altered oligodendroglial cells (specifically, the expression levels of the discoidin domain receptor 1 or DDR1 gene, for its acronym in English). Until now, research into these diseases has focused on the study of neurons, which are the most abundant cells in our brain and about which we now have more information. Therefore, this finding opens a new scientific avenue, which could contribute to a greater understanding of the development of these mental illnesses, their cause and treatments.

Oligodendroglial cells are the third most abundant type of cell in the brain. They can be found in 3 distinct stages of maturation: precursor oligodendrocytes (most immature stage), pre-echelinizing oligodendocytes (intermediate stage), and myelinating oligodendocytes (most mature stage). The latter are responsible for coating neurons with myelin, a layer composed of lipids that acts in the same way that plastic covers electrical wires. Myelin allows information to be transmitted more quickly and efficiently in our brain. This process is vital for the proper functioning of this organ.

The results of this study were based on the analysis of 1721 postmortem brain tissue samples from patients diagnosed with schizophrenia and bipolar disorder, and from people without any psychiatric illness. These samples have been provided by psychENCODE, a repository of postmortem brain tissues, from donors in the United States. They have demonstrated alterations in DDR1 expression levels. Specifically, (compared to people without psychiatric disorders), patients with schizophrenia and bipolar disorder have lower levels of DDR1 expression in precursor oligodendrocytes and higher levels of DDR1 expression in pre-echelinizing oligodendrocytes.

If these results are corroborated, oligodendroglial cells could be considered a new therapeutic target for the treatment of schizophrenia and bipolar disorder. However, these findings should continue to be contrasted in future research aimed at understanding how alterations in DDR1 expression levels in oligodendroglial cells affect patients’ symptoms. In addition, studies in animal models and people will be necessary for treatments to finally be developed to restore the proper functioning of DDR1 and oligodendroglial cells, which will take years of study. “Our goal is to continue investigating the role of DDR1 in the different stages of maturation of oligodendroglial cells and its impact on patients’ symptoms, in order to be able to develop personalized treatments in the future,” explains Dr. Selena Aranda, a researcher in the Genetics and Environment in Psychiatry Group (GAP), which carried out this study. led by Dr. Elisabet Vilella.

Study That Would Revolutionize Schizophrenia and Bipolar Disorder

Schizophrenia and bipolar disorder are two of the most common serious psychiatric disorders. Most of the drug treatments currently available are aimed at improving neuronal functioning. However, these treatments are not effective for all patients and in most cases cause adverse effects. Finding new therapeutic targets and improving current treatments is key to improving the quality of life of patients and reducing the costs that this type of disease entails for the public health system.

The results of this study have recently been published in Translational Psychiatry, a prestigious journal in the field of psychiatry.

Bibliographic reference. Aranda, S., Muntané, G. & Vilella, E. Coexpression network analysis of the adult brain sheds light on the pathogenic mechanism of DDR1 in schizophrenia and bipolar disorder. Transl Psychiatry 14, 112 (2024). https://doi.org/10.1038/s41398-024-02823-0

Researchers from the ELISAH project met up in Milan.

Over 11 European health and research partners, among which is the IISPV, are collaborating to promote breast cancer prevention in the ELISAH project (European Linkage of Initiative from Science to Action in Health). The international consortium has received funding from the European Commission to decrease the impact of breast cancer by addressing modifiable risk factors of the disease.

Breast cancer remains a significant global health challenge. In 2020, regardless of gender, breast cancer ranked as the first most frequently diagnosed cancer worldwide, accounting for 11.9% of cases. During that year, there were over 2,2 million new cases reported worldwide in 2020, and more than half a million cases in Europe alone, resulting in 684,996 deaths. Only 5– 10% of all breast cancer cases are caused by genetic disorders, while the remaining 90–95% are linked to environmental and lifestyle factors.

For this reason, the ELISAH European project focuses on collectively studying environmental pollution, the built environment, unhealthy nutrition, lack of physical activity, and alcohol and tobacco use.

The consortium brings together a diverse group of experts, including epidemiologists, clinicians, statisticians, public health professionals, psychologists, physicians, and engineers. This collaboration is tailored to address the multifaceted nature of breast cancer, recognizing the strong interrelationships between risk factors.

The 3-year project aims to deliver well-informed policies and medical interventions in line with the principles outlined in Europe’s Beating Cancer Plan. Structured into two distinct phases, ELISAH begins with a thorough analysis of national cancer plans, breast cancer rates, and the distribution of risk factors.

The second phase involves designing innovative interventions and actions to overcome current limitations in breast cancer prevention. This includes a web-based platform for lifestyle changes, targeted initiatives to raise awareness of risk factors, and screenings in specified regions.

A multidisciplinary consortium

The ELISAH project is funded by the European Commission (Call EU4H-2022-PJ-3), and has a budget of almost 1 million euros. Coordinated by the Istituto Nazionale dei Tumori (Italy), the consortium is also composed by the Institut d’Investigació Sanitària Pere Virgili – IISPV; Institut Català d’Oncologia Girona Biomedical Research Institute-IDIBGI; Ethniko Kai Kapodistriako Panepistimio Athinon (Greece); Utility Non-Profit Enterprise Ivano-Frankivsk Central City Clinical Hospital (Ukraine); Azienda Ospedaliera Universitaria Policlinico Paolo Giaccone Di Palermo (Italy); Salute Donna Onlus (Italy); Cittadini Per L’Aria Onlus (Italy); Carpathian Institute Of Analytics – FrankoLytics (Ukraine); Universita Degli Studi Di Brescia (Italy); and the Universita Degli Studi Di Perugia (Italy). Last week, representatives of all institutions held the first consortium meeting in Milan, Italy.

It is the result of a study led by the IISPV, the Hospital Institut Pere Mata and CIBERSAM, which has made it possible to identify genetic variants involved in the cognitive impairment experienced by these people and that also significantly affect their personal and social relationships

Dr. Esteban Sepúlveda, Dr. Elisabet Vilella and Dr. Selena Aranda, from the GAP Research Group.

A study led by the Pere Virgili Institute of Health Research (IISPV), the Hospital Institut Pere Mata and the Center for Biomedical Research in Mental Health Network (CIBERSAM) will contribute to improving the quality of life of people with bipolar disorder as it has made it possible to identify genetic variants of the discoidin domain receptor 1 (DDR1) gene related to their cognitive abilities and psychosocial function patients. Cognitive abilities are the mental processes that have to do with memory, concentration, and information processing. A deterioration of these in turn implies that the psychosocial function of patients is affected, understood as the set of skills of the person to carry out routine tasks and relate at a social level.

The results of this study could contribute to the detection of patients who are more likely to suffer from cognitive and psychosocial impairment. This would help to intervene from the beginning, avoid severe complications, allow more personalized and effective treatments to be administered (thus reducing the costs that this type of disease entails for the public health system) and ultimately improve the quality of life of patients. To do this, it is necessary that genetic diagnosis is used as a support tool in the mental health environment (it currently happens very rarely).

Before implementing this type of clinical trial in health centers, however, the results of this study must continue to be contrasted in future research involving more patients and with more varied profiles. To carry out this study, 3,035 samples were analysed, provided by CIBERSAM. “The team’s goal is that the genetic variants identified in the DDR1 gene, along with genetic variants identified in other studies, are used as an early detection tool in our health systems so that people with bipolar disorder have a better quality of life,” explains Dr. Selena Aranda Castel, researcher at the Genetics and Environment in Psychiatry Group (GAP) at IISPV, in charge of the research (led by Dr. Elisabet Vilella).

The DDR1 Gene and Its Relationship to Bipolar Disorder

DDR1 is a gene that works in one of the most important cells in the brain: oligodendrocytes. They are the cells responsible for coating neurons with myelin, a layer composed of lipids that helps information be transmitted more quickly and efficiently.

Bipolar disorder is one of the leading causes of disability in the world, affecting 2% of the population; However, most of the treatments available to treat some of the difficulties that patients encounter (such as cognitive decline) are few or ineffective. One of the factors that contributes to the low efficacy of treatments is that, in most cases, patients do not receive them on time, a fact that ends up affecting their quality of life.

The results of this study were recently published in the journal Molecular Psychiatry, one of the best in the field of psychiatry.

In this research are involved 9 research groups from CIBERSAM (in parentheses the researchers who lead them): Institut d’Investigació Sanitària Pere Virgili (IISPV) (Dra. Elisabet Vilella); Hospital Universitario de Álava (Dra. Ana González-Pinto); Fundación para la Investigación y Docencia Maria Angustias Jiménez (FIDMAG) (Dra. Edith Pomarol); Universidad de Oviedo (Dra. Pilar Alejandra Sáiz); Hospital Universitario de Bellvitge (Dr. José Manuel Menchón); Consorcio Mar Parc de Salut de Barcelona (Dr. Víctor Pérez); Hospital Gregorio Marañón (Dr. Celso Arango); Universidad de Valencia (Dr. Juan Salvador Nacher) and Hospital Clínic de Barcelona (Dr. Eduard Vieta)

Bibliografic reference: Aranda S, Jiménez E, Canales-Rodríguez EJ, Verdolini N, Alonso S, Sepúlveda E, Julià A, Marsal S, Bobes J, Sáiz PA, García-Portilla P, Menchón JM, Crespo JM, González-Pinto A, Pérez V, Arango C, Sierra P, Sanjuán J, Pomarol-Clotet E, Vieta E, Vilella E. Processing speed mediates the relationship between DDR1 and psychosocial functioning in euthymic patients with bipolar disorder presenting psychotic symptoms. Mol Psychiatry. 2024 Feb 19. doi: 10.1038/s41380-024-02480-1. Epub ahead of print. PMID: 38374360