The Research Institute of the Hospital de la Santa Creu i Sant Pau and the Autonomous University of Barcelona have created the Joint Research Unit in Genomic Medicine UAB – IR Sant Pau with the aim of investigating the diagnosis, physiopathology and therapeutics of genetic diseases and tumour predisposition syndromes. The project is supported by the Fundació Privada del Hospital de la Santa Creu i Sant Pau.

In recent years there has been a great development, almost revolutionary, in all aspects related to medical applications of Genetics. Closely linked to technological advances in the field of mass sequencing, new genes involved in human diseases are discovered every day, opening the door to rapid and precise diagnosis and offering new therapeutic targets for drug discovery.

Each time there are new therapeutic strategies based on in-depth knowledge of the genetic causes of the disease. Therefore, an adequate genetic diagnosis is important, not only to provide good genetic counselling and clinical follow-up to patients and their families, but also to provide a personalized and accurate medicine based on genomic information of each patient. At the same time, revolutionary new therapies based on genetics, such as gene therapy, are already a reality in a growing number of pathologies.

The UAB has had a strategic vision in this field, being the only university in Spain that offers a degree in Genetics. Research in genomic medicine is also strategic for the IR-Sant Pau and much of this research is transferred to patients at the Hospital de Sant Pau through diagnostic improvements in its Genetics Service.

With the aim of continuing to strengthen this field of action, the UAB and IR Sant Pau agreed at the beginning of October to take a step forward and create the Joint Research Unit in Genomic Medicine UAB – IR Sant Pau. This unit will be made up of researchers and scientific equipment from both institutions and will focus on the field of research into genetic diseases and the transfer of genetic knowledge to a better diagnosis and treatment of this type of pathology.

The Mixed Unit will be located in new laboratories that, within the framework of this agreement, will be built inside the new building of the Research Institute of the Hospital de la Santa Creu i Sant Pau, located at Carrer Sant Quintí, 77-79 in Barcelona.

The Unit’s scientific director, Dr Jordi Surrallés, is a principal investigator at IR-Sant Pau and, at the same time, Professor of Genetics at the UAB. He will be in charge of the lines of research and will be responsible for the operation of the Mixed Unit. He joined the Sant Pau Research Institute on 15 October this year.

Research into rare diseases and cancer predisposition syndromes

Dr. Surrallés directs the Genomic Instability Syndromes and DNA Repair research group of the Sant Pau-IIB Sant Pau Research, which works in the field of human genetic diseases characterized by a high predisposition to cancer. Some of them are rare diseases (Fanconi anaemia, xeroderma pigmentosum, Bloom syndrome or ataxia telangietàsia) but others are relatively frequent among the population, such as hereditary breast or colon cancer.

Many of these syndromes are caused by mutations in people involved in DNA repair. These genes are important to prevent mutation accumulation and prevent tumor transformation. Dr. Surrallés’s team has discovered many people involved in these cancer genetic predisposition syndromes. Research on these syndromes is important to develop the mechanisms that protect us from cancer.

The group’s researchers also participate in various clinical assays on gene therapy and drug repositioning, and investigate the DNA repair gens involved in these syndromes as therapeutic targets against cancer in the general population. Some of these therapeutic investigations have led to the designation of orphan drugs by the European Medicines Agency.

The Neurosurgery Service of Sant Pau applies a new surgical technique that prevents bleeding during and after an intracranial biopsy. Through the same cannula with which the biopsy is performed, neurosurgeons introduce a thrombin gelatine matrix during bleeding favoring the formation of an intracranial clot. Thrombin grows in volume in such a way that it compresses the blood vessels and prevents bleeding. The new technique avoids complications in this surgical procedure such as neurological sequelae and/or major surgery such as a craniotomy.

This new process devised by the neurosurgeons of the Sant Pau has recently been published in the prestigious journal World Neurosurgery.

Researchers from the Networked Biomedical Research Centre for Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), the Sant Pau Research Institute (IIB Sant Pau) and the Autonomous University of Barcelona (UAB) have published an article in Haematologica , one of the international scientific journals with the greatest impact in the field of Hemato-Oncology. This article demonstrates the high selectivity of a protein-based nanomedicine, created by the researchers themselves, for the targeted delivery of a toxin in target tumour cells to induce their selective death, producing a potent anti-tumour effect in an LDCGB animal model. This nanoparticle can be developed as a nanofarmaceutical in order to introduce a new treatment that could be used in 40% of LDCGB patients who do not respond to current therapy, avoiding the adverse effects associated with conventional treatment.

Link to the publication

The team of researchers, led by members of CIBER-BBN, Dr. Isolda Casanova, Prof. Ramon Mangues and Doctoranda Aida Falgàs, from IIB Sant Pau, and Prof. Antonio Villaverde and Dr. Esther Vázquez from UAB, have demonstrated that this nanofarm acts only on positive CXCR4 lymphoma cells capable of disseminating and nesting in bone marrow and lymphatic nodes.

Disruptive technology

This selective effect of the nanofarmaceutical is due to the specific interaction between a routing peptide containing the protein nanoparticle carrying the toxin and the highly overexpressed CXCR4 cell receptor in lymphoma cells. This is the first time that the uptake of a protein nanoparticle in different organs of a haematological neoplasm has been quantified, observing surprisingly that 86% of the dose administered accumulates in cancer cells, a substantial improvement compared to other non-protein nanoparticles or other drug targeting systems such as drug-antibody conjugates, which only reach 1% of the dose in the tumour. Therefore, this is a disruptive technology that allows only lymphoma cells to be eliminated, blocking their dissemination to healthy organs with possible involvement in this type of neoplasm, while avoiding the adverse effects associated with conventional treatments.

It has been observed that the CXCR4 receptor is overexpressed in more than 20 different types of cancer, including hematological neoplasms such as acute myeloid leukemia or diffuse large B-cell lymphoma and solid tumors such as carcinomas of the breast, prostate, endometrium , ovary or head and neck among others, associated with poor prognosis. On this basis, this nanotoxin may be indicated in the treatment of different types of cancer, which places it as a very versatile nanomedicine that may be indicated in the treatment of numerous tumor types with high prevalence.

There are currently no drugs on the market that selectively eliminate the cells responsible for metastatic dissemination, so the development of this nanomedicine could have a high clinical impact after the necessary trials have been carried out to apply them in humans. The company Nanoligent SL, which has licensed the intellectual property of this new type of nanomedicine, aims to obtain public and private funding for its preclinical development and its study in clinical trials in DLBCL lymphomas, among other types of cancer.

Los proyectos liderados por los Dres. Pere Domingo, coordinador del Grupo de investigación en VIH y AIDS y jefe clínico de VIH de la Unidad de enfermedades infecciosas del Servicio de Medicina Interna, y Javier Briones, miembro del Grupo de investigación en Hematología Oncológica y Trasplante y jefe clínico de la actividad ambulatoria del Servicio de Hematología, ambos de Sant Pau, han recibido dos de las becas Gilead a la Investigación Biomédica.

Los proyectos concedidos:

• “Role of inter-organ signaling molècules in the fat-liver and gut-liver axes in non-alcoholic fatty liver disease in HIV-infected patients: contribution to the spectrum and progression of the disease”. Pere Domingo.

• “Non-invasive tumor immunoglobulin gene next generation sequencing from circulating tumor DNA in diffuse large β cell lymphoma: prognostic implications and assessment of tumor response?. Javier Briones.

Israel Fernández Cadenas, principal investigator of the Pharmacogenomics and Neurovascular Genetics group of the Sant Pau Hospital Research Institute, has been elected Vice-Chair of the International Stroke Genetics Consortium (ISGC). The ISGC was created in 2007 and is currently made up of more than 200 researchers representing 20 countries from five continents. It is the main international consortium for the genetic study of stroke. This consortium has resulted in studies published in journals such as the New England Journal of Medicine, Nature Genetics or Lancet Neurology. This is the first time that a state researcher has been appointed vice-president of this consortium.

International Stroke Genetics Consortium (ISGC)

The Cardiology, Cardiac Surgery and Vascular Surgery Service of the Hospital de la Santa Creu i Sant Pau have set up a transverse 3D printing platform with state-of-the-art equipment aimed at research, teaching and clinical application in support of highly complex procedures in the cardiovascular field. The platform is supported by the Cardiology Service, the Centre for Biomedical Research Network – Cardiovascular (CIBERCV) and the Sant Pau Research Institute – IIB Sant Pau.

This technology has already been applied to date for the treatment of 3 patients of the Vascular Surgery Service, 5 patients of the Surgery Service and 6 patients undergoing intervention procedures in complex structural heart diseases with excelenses results. The last case is a patient admitted in critical condition for a serious complication of an acute myocardial infarction with cardiac rupture. The impression of the heart provided a unique and very detailed information of the problem, which allowed the cardiac surgeons to individualize the type of surgery and satisfactorily repair the damaged heart achieving a favorable evolution of the patient.

Biomedical image analysis and 3D printing are revolutionizing the way complex medical procedures are understood and planned. The availability of three-dimensional anatomical information, prior to surgical procedures, allows a more precise and tangible knowledge of the pathology and customization of the surgery according to the anatomical characteristics of each patient. In this way, the surgeon can better explain to the patient the surgical procedure to be performed while making his task significantly easier, and can plan the approach and foresee possible difficulties that may be encountered. This technological advance is aimed at improving the results of the surgery and avoiding complications.

Yesterday, October 30, diplomas were awarded to the 96 cancer research teams, which will receive the 15 million euros raised by the Marathon TV3 and Catalonia Radio 2018. This year Sant Pau had the honour of making public thanks through Dr. Virtudes Céspedes, coordinator of the Gynaecological and Peritoneal Oncology research group of the Sant Pau Research Institute – IIB Sant Pau.

The following research groups (https://www.ccma.cat/tv3/marato/projectes-financats/2018/1630/), including two from Sant Pau, will receive grants:

– “Genomic indicators for the prediction of recurrence and metastasis in endometrial cancer”

Dr. María Virtudes Céspedes Navarro, Gynaecological and Peritoneal Oncology Research Group, Sant Pau Research Institute – IIB Sant Pau.

– “Humanized Nanomedicine selectively targeted to kill tumor cells CXCR4 + for the treatment of Acute Myeloid Leukemia”

Dr. Jordi Sierra, Oncological Hematology and Transplant Research Group. Hospital de la Santa Creu i Sant Pau- IRHSCSP Research Institute of the Hospital de la Santa Creu i Sant Pau.

The largest investment in research in the history of the Foundation

The 15 million euros raised in the 2018 edition of the Marathon allow the Foundation to make the largest annual investment in research in history. The 96 winning teams will work over the next three years to find more answers to cancer, a disease that, despite the great advances made in recent years, continues to have a very high incidence: one in two men and one in three women will have throughout their lives. The 43 awarded projects, in accordance with the decision of the Board of Trustees and at the proposal of the Scientific Advisory Committee, are the most highly rated of the 192 candidates submitted to the call for grants. The Catalan Agency for Healthcare Quality and Evaluation, Aqua, of the Department of Health, coordinated an international evaluation process in which 149 cancer experts assessed the work in terms of its quality and methodology, scientific, health and social relevance, and innovative value, among others. In 2024, the Foundation will announce the results obtained in the research work in a scientific symposium.

Luciana Martel, a fellow of the Pituitary Diseases research group at the Sant Pau-Sant Pau Research Institute-IIB, has received the prize for the best Neuroendocrinology paper presented at the Congress of the Spanish Society of Endocrinology and Nutrition (SEEM) that took place recently in Bilbao.

“MRI evaluation of skeletal muscle fat infiltration, associated with low functional performance in patients with Cushing syndrome in remission” is a work led by Elena Valassi, member of the same team of Diseases of the Pituitary, with collaboration of professionals from the Services of Neurology, Image Diagnosis, Rehabilitation of the Hospital de Sant Pau and also the Endocrinology Service of the Hebron Valley.

Dr. José Manuel Soria, from the Genomics of Complex Diseases Research Group of the Sant Pau Research Institute – IIB Sant Pau – has participated in a study that evaluates the physiological conditions necessary to remain at high altitudes with or without the help of supplementary oxygen, following the deaths of climbers trying to reach the summit of Everest (8,848 m) last spring. The work has recently been published in the prestigious journal Lancer Respiratory Medicine.

“Breathless and dying on Mount Everest”

The Regional Minister of Health, Alba Vergés, presented the Charter of Commitment for gender equality on 22 October during the closing ceremony of the first Gender Summit in Health Sciences at CaixaForum Girona. The document was signed by the directors and representatives of the 19 health research centres and institutes in Catalonia, including Dr Jordi Surrallés, director of the São Paulo Research Institute, and Miriam Ors, deputy director. See more The Charter includes 12 commitments to end gender inequality in the research system in Catalonia. It was agreed, among others, to tackle vertical and horizontal wage inequality by the same responsibility and professional level; to eliminate the obstacles that prevent women from advancing in their scientific careers; and to promote changes in organisational culture and professional structure to eliminate systemic barriers, stereotypes and inequalities. In addition, it has been decided to carry out a one-year work plan to accelerate women’s advancement and leadership in health research.

Gender scissors

The Minister of Health, Alba Vergés, highlighted “the Department’s firm commitment to promoting the gender perspective in health policies and at the same time promoting changes in health research in Catalonia”. Vergés stressed that the data presented “show the so-called gender scissors” which, among others, she explained is translated with “lack of female leadership of the centres; in which women have less possibilities to receive funding for research and fewer invitations to give lectures and participate in panels, while few relevant positions in the authorship of publications. Faced with this situation, the councillor pointed out that “this summit -” leader in the European sphere and the first with real data- must serve to provide solutions to the problem “and added that the first step is with the Charter of Commitment, signed. In this sense, Vergés underlined some of the commitments of this Charter, such as now, that of tackling horizontal and vertical wage inequality, and that of eliminating the obstacles encountered by women in the transition between the completion of a doctorate and a stable professional career. “We cannot and do not want to lose talent,” she said during her speech. Vergés also stressed the commitment to train researchers and support them to include the gender perspective in research and innovation, and concluded that “the knowledge produced will benefit the entire population and not just men, half of the population.

Precisely, the studies presented during the summit indicate that significant steps have been taken, but that the so-called “gender scissors” are maintained. One of the most worrying aspects is the lack of women in the leadership positions of the centres. Once they finish their doctorate, the professional careers of men and women diverge and they see their promotion and advancement in the research career slowed down. The numbers presented during the day indicate that of the 7,167 people who work in the research centers, 3,907 (that is, 55%) are women; but they have it more difficult to progress in the research career so that, among other reasons, they have less access to funding to carry out their research. For example, of the 46 ICREA grants (the most prestigious in science) in Catalonia, only 20% are awarded to women. In addition, women get less money than men when research projects are presented: specifically, 19,000 euros less for each project.

Another problem that has been put on the table during the summit is that women are less likely to occupy relevant positions in the authorship of publications of scientific articles. 44% of the principal researchers are women, but at the time of publication there is only 28% female leadership.

The summit, promoted by the Department of Health and the Catalan Agency for Health Quality and Assessment (AQUA) in collaboration with the “la Caixa” Foundation, also brought together renowned international experts in the implementation of the gender perspective in research and biomedicine.

Drs. José Julve and Israel Fernández-Cadenas, from the Sant Pau Research Institute of Sant Pau-IIB, will participate this Sunday 27 October in the microchairs of the Science Festival, which this year will be held at the Moll de la Fusta. Attached you will find the link to consult timetables and spaces.

José Julve, member of the Research Group on Metabolic Bases of Cardiovascular Risk
Microcharlas: “We help your microbiota prevent obesity and diabetes.”

Israel Fernández-Cadenas, coordinator of the Pharmacogenomics and Neurovascular Genetics Research Group
Microcharlas: “Genetics and data analysis to prevent diseases such as stroke”.

https://www.barcelona.cat/barcelonaciencia/ca/espais-activitat/10-microxerrades?edicio=3402&tid=3376

Once again this year, the city’s most outstanding buildings, at an architectural level, open their doors to the public at the 48H Barcelona Open House. This year the building of the São Paulo Research Institute joins this initiative and can be visited on Saturday 26 October, from 10:00 to 14:00 and from 15:00 to 19:00.

https://www.48hopenhousebarcelona.org/edifici/institut-de-recerca-de-lhospital-de-la-santa-creu-i-sant-pau/

Mitochondrial antioxidants have a beneficial effect on metabolic alterations associated with obesity such as weight gain and insulin resistance, and may have consequences on heart function, according to researchers from the CIBER Cardiovascular Diseases (CIBERCV) of different research groups such as “Mechanisms regulating cardiovascular remodeling” coordinated by Dra. Cristina Rodríguez from the Research Institute of the Hospital de Sant Pau- IIB Sant Pau; researchers from the Universidad Complutense de Madrid-Instituto de Investigación Sanitaria Gregorio Marañón; from the Instituto de Investigaciones Biomédicas de Barcelona (IIBB-CSIC) and from the Instituto de Biología y Genética Molecular (IBGM-CSIC / UV).

In this work col – elaborated, published in the FASEB Journal, the interest of developing antioxidant drugs aimed at blocking mitochondrial oxidative stress for the improvement of metabolic alterations observed in obese patients is emphasized. Therefore, the role of oxidative stress in metabolic alterations has been evaluated in rats, fed a diet high in fat or low for 7 weeks that were treated with MitoQ, a mitochondrial antioxidant, and also the mitochondrial protein profile of visceral adipose tissue of obese patients has been analyzed.

Link to the reference article:
The role of Mitochondrial oxidative stress in the Metabolic alteration in diet-induced Obesity in rats
Gemma Marín-Royo, Cristina Rodríguez, Aliaume Le Pape, Raquel Jurado-López, María Luaces, Alfonso Antequera, José Martínez-González, Francisco V Souza-Net, María Luisa Nieto, Ernesto Martínez-Martínez, Victoria Cachofeiro.

The Sant Pau Biomedical Research Institute (IIB Sant Pau) with the Complex Diseases Genomics Research Group, led by Dr. José Manuel Soria, organised the seminar “predictions of thrombosis in oncological patients” by Dr. Andrés Muñoz Martín, from the Digestive Cancer Unit of the Medical Oncology Service of the Gregorio Marañón General University Hospital. The conference will take place on 30 October at 3 p.m. in the multipurpose rooms.

More information seminar

Next Saturday 19 October, the weekly programme “La ciencia de la salud” on La 2 of TVE returns, from 1 p.m. to 2 p.m.. This first broadcast will be dedicated to Alzheimer’s disease with the participation of different Sant Pau professionals.

On Tuesday, October 22, the classic guitar concert will take place in the program of solidarity activities for the Precipit project, which will take place at 7 pm at the  Recinto Modernista de Sant Pau. Adjunto encontrará el programa con los siguientes conciertos. Attached you will find the program with the following concerts.

From the Directorate of the Institute, we inform you that the Research Institute of the Sant Pau-IIB Hospital of Sant Pau adheres to the CERCA and ACER Communiqué on the ruling of Catalan political and social leaders.

To view the press release, click here

The Huntington ‘s Disease Society of America has awarded the Human Biology Project Fellowship to neuropsychologist Saúl Martínez-Huerta, of the Parkinson’s Disease and Movement Disorders Research Group, led by Dr. Jaume Kulisevsky.

The project entitled “Neurobiological mechanisms subserving de differential expression and rate of progression of cognitive impairment in Huntington’s disease” will focus on studying over the next two years the mechanisms involved in cognitive heterogeneity manifested by people affected by this neurodegenerative disease.

The research aims to identify mechanisms that coexist with the primary cause of Huntington’s disease (the mutation in the HTT gene) and that favour faster cognitive deterioration and a higher rate of neuronal loss in brain areas previously considered little affected in the context of this disease.

Dr. Mar Gomis, from the Pharmacy Service of the Sant Pau Hospital and the Pharmacy Research Group of the IIB Sant Pau, has been coordinating a new comprehensive monitoring platform, MedPlan +, which can be applied to any pathology and is ideally aimed at a multi-morbid and polymedicated patient. This platform allows individualized and personalized monitoring of adherence, lifestyles and side effects in real time.

The emergence of new technologies in health has led to many experts talking about their benefits in disease control. On the other hand, the extension among the population of the use of smartphones offers a channel to patients as a tool to help them take medication, to promote self-management of comorbidities and encourage professional-patient interaction. In this sense, Medplant + provides support from the clinical team to the patient at the same time that it empowers him in the daily monitoring of his therapy and illness.

The platform is divided into different modules: an agenda that establishes the patient’s medication plan (with intake schedules, reminders and recommendations); self-monitoring program of comorbidities (such as tension or weight) in a personalized way. Also from the treatment module, it is possible to consult information on the medicine through a link with the medicine database (CIMA) of the Spanish Medicines Agency and visualize all the registers that have been introduced in the evolution module, where the patient will find graphs and tables that will allow him to better control his constants and biomesures. As a more advanced option, the module for interaction with healthcare professionals allows you to communicate with the healthcare team at any time of the day through the application’s own messaging service. In addition, the platform has a new videoconferencing system with an associated agenda to be able to carry out non-presential visits and informative brochures on health prevention within the advice module.

The platform has already demonstrated positive results in transplant patients, significantly improving therapeutic adherence thanks to the possibility of two-way interaction with the professional and the possibility of having a private health area on the mobile phone.