A program in which new researchers from the health sector in Cantabria present the progress of their research.

On May 10 we will have the presentations of Camilo Palazuelos Calderón and Amaya Llorente Mecieces, within the Progress Reports Valdecilla program. The session will be held in the Innovation and User Experience Laboratory – Linnux at 14:00 hours, being broadcast live through the Zoom platform.

 

The ARCEUS project: Artificial intelligence for the early detection of intra-abdominal infection after colorectal surgery.

SPEAKER: Camilo Palazuelos Calderón

Camilo Palazuelos is Assistant Professor (Languages and Computer Systems area) at the Department of Mathematics, Statistics and Computer Science of the University of Cantabria. He holds a PhD in Science and Technology (2019), a master’s degree in Mathematics and Computer Science (2013) and an engineering degree in Computer Science (2012) from the University of Cantabria. He has visited several European research groups, such as the Distributed Sensor Systems Group (Philips Research Europe), the Oxford Centre for Industrial and Applied Mathematics (University of Oxford) and the Biomarkers and Susceptibility Unit (Catalan Institute of Oncology). His research focuses on the representation of knowledge with uncertainty and its integration and impact on clinical decision making, especially in surgery. He is the principal investigator of the regional ARCEUS project, which aims to develop an intelligent system capable of early and safe discharge of colorectal surgery patients. Camilo has published more than 30 journal articles, book chapters and conference contributions and has participated in national and international research projects.

 

Role of BCMA in Multiple Myeloma: mechanisms and drug resistance

SPEAKER: Amaya Llorente Mecieces

Amaya Llorente has a degree in Biochemistry from the University of Castilla La Mancha and a Master in Neurosciences from the University of Salamanca. In 2022 she joined the group of hematological neoplasms and hematopoietic progenitor transplantation to perform her doctoral thesis. During this year she has worked on the study of Multiple Myeloma, specifically the role of BCMA and its implication in the biology and treatments of this disease, under the supervision of Dr. Patricia Maiso Castellanos and Dr. Enrique María Ocio.

 

The session will be given in hybrid format, in person at the Linnux laboratory (free entrance until full capacity is reached) and online through the Zoom platform. To attend the virtual session, it is necessary to register through the following access link:

https://us06web.zoom.us/meeting/register/tZcsc-usrzktHNBA5kBmxBgurfKHZgv_u7Eu

The session will start at 14:00h. Each speaker’s talk will last about 20 minutes followed by a short discussion and agape.

If you have any questions or doubts, please contact proyectos1@idival.org and gesval4@idival.org

Progress Reports Valdecilla

A program in which new researchers from the health sector in Cantabria present the progress of their research. On May 10 we will have the presentations of Camilo Palazuelos Calderón and Amaya Llorente Mecieces, within the Progress Reports Valdecilla program. The session will be held in the Innovation and User Experience Laboratory – Linnux at […]


These donations are destined to study Alzheimer’s markers to detect people at high risk of suffering from this disease in the future.

IDIVAL has received one more year the visit of Oscar Negrete and Fernando Cerro from the association ‘Unidos por un Reto’ to make a donation of 800€ that will be destined to Alzheimer’s research. This amount comes from the proceeds of the VII Night Trail and the IX Night Walk organized by this association, held in Cicero on April 7, 2023 and in which more than 700 people participated.

“An initiative with immense value”, as highlighted by Eloy Rodriguez, head of the Cognitive Impairment Unit of the Marqués de Valdecilla University Hospital (HUMV) and Galo Peralta, Director of Management of IDIVAL, who collected the donation. They both highlighted the importance of this type of projects that combine sport, research and solidarity, that raise awareness in society of health research and that contribute to promote the work of research personnel.

The donation will contribute to continue the study, led by Dr. Eloy Rodriguez, focused on detecting people at high risk of developing Alzheimer’s disease in the future. So far, the `Cohorte Valdecilla’ group has investigated the validity of two plasma markers called beta-amyloid 1-42 and p-tau181 and in the coming months another marker called NfL will be included.

Dr. Eloy Rodriguez explains that they intend “to study how these plasma markers relate to the current reference. If the correlation is good, they will try to determine cut-off points for the general population and thus be able to use them in the future to detect these people at risk by means of a blood test instead of a lumbar puncture”.

Association involved in the research

United for a Challenge’ is an association promoted by Óscar Negrete, a cycling enthusiast since childhood, who has not stopped pedaling and breaking records to raise money for a charitable cause: “to investigate the causes of Alzheimer’s disease”.

Since his father was diagnosed with this disease, Oscar has wanted to pay tribute to the man who was his mentor both in cycling and in his life. Therefore, through the initiative ‘United for a challenge’, he collaborates continuously with the IDIVAL Foundation supporting research in this area.

 

 

 


A forum organized by IDIVAL and given by world renowned experts who will present advances in the field of rare diseases.

 

The next module of the International Forum on Precision Medicine will begin next Monday, May 8, and will review the different lines of research in the field of rare diseases.

A forum mainly focused on the review of some of the methods of analysis and functional validation of genetic variants, personalized advances, therapeutic targets in the treatment of these diseases, and national and international organizational strategies aimed at a more accurate and individualized diagnosis of these diseases. This program aims to update this acquired knowledge, thanks to top level speakers, leaders in their respective fields, both nationally and internationally.

The program is coordinated by Dr. José A. Riancho Moral, Head of Section of the Internal Medicine Department of the Marqués de Valdecilla University Hospital and endorsed by the ITEMAS Platform, the Spanish Society of Clinical Pharmacology, the Biobanks and Biomodels Platform of the Carlos III Health Institute and the CIBERER.

A meeting aimed at clinical, research and support staff who wish to learn from experts about aspects related to research and precision medicine in the field of rare diseases in adults.

The course, taught in online format, will be held from May 8 to 17 from Monday to Thursday from 16:00 to 18:00 hours.

It is pending accreditation by the Commission for Continuing Education of healthcare professionals. A diploma will be provided to all attendees who meet 80% attendance.

 

Registration link: https://us06web.zoom.us/meeting/register/tZwkdu2pqz4vHdBCLd-BYOBUJJ22mJVmaZt1

TRIPTIC rare diseases

 

 

 

Forum Rare Diseases in Adults

A forum organized by IDIVAL and given by world renowned experts who will present advances in the field of rare diseases.   The next module of the International Forum on Precision Medicine will begin next Monday, May 8, and will review the different lines of research in the field of rare diseases. A forum mainly […]


The results open the possibility of using 5 genes identified as markers that correlate with the severity of the disease in the brain.

The `Neurodegenerative Diseases´ group of the Marqués de Valdecilla Health Research Institute (IDIVAL) led by Dr. Jon Infante Ceberio has participated in a european multicenter study with the aim of identifying genes with relevant changes in the progression of the rare neurodegenerative disease called autosomal dominant cerebellar ataxia (SCA3), also known as Azores disease, Machado disease or Machado-Joseph disease.

The research reveals a set of 5 genes that undergo important changes in their expression in stages prior to the clinical development of the disease and correlate with its severity. These results open up the possibility of using these genes as markers for early detection of this disorder, monitoring its progression and analyzing how it responds to treatments.

Today there are no specific treatments to slow or halt the progression of SCA3, but rather care is focused on combating movement-related symptoms that affect motor coordination and balance. Therefore, the identification of accurate, reliable and easily accessible biomarkers is one of the necessary requirements for the development of clinical trials with the greatest guarantee of success.

In the study, published in the journal Brain, a blood analysis of the RNA molecules present or transcriptome was carried out in a group of patients with SCA3 at different evolutionary stages of the disease and in control subjects. Similarly, these analyses were performed on brain samples and the set of candidate genes obtained was replicated in an independent sample of SCA3 patients and healthy controls.

Finally, a set of 5 genes were identified in blood and brain that undergo important changes in their expression in presymptomatic stages of the disease and correlate with the severity of ataxia, which will have to be confirmed in future studies in order to be applied to the clinic.

Participation in consortia and networks

The responsible research group is also part of the Centers, Services and Reference Units (CSUR) of Hereditary Ataxias and Paraplegias of the Marqués de Valdecilla University Hospital (HUMV) accredited by the National Health System (NHS), as well as of the European Network of Rare Neurological Diseases (ERN-RND). Likewise, for more than two decades, they have been integrated in a european consortium that seeks to define the natural history of autosomal dominant cerebellar ataxias, as well as to build cohorts prepared for the implementation of clinical trials.

Several european projects (EUROSCA, RISCA, ESMI) have been funded in the framework of this consortium with the participation of HUMV and IDIVAL. The current project is part of the European Spinocerebellar ataxia type3/Machado-Joseph disease initiative (ESMI), EU Joint Programme – Neurodegenerative Disease Research (JPND).

Reference: Raposo M, Hübener-Schmid J, Ferreira AF, Vieira Melo AR, Vasconcelos J, Pires P, Kay T, Garcia-Moreno H, Giunti P, Santana MM, Pereira de Almeida L, Infante J, van de Warrenburg BP, de Vries JJ, Faber J, Klockgether T, Casadei N, Admard J, Schöls L; European Spinocerebellar ataxia type 3/Machado-Joseph disease Initiative (ESMI) study group; Riess O, Lima M. Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3. Brain. 2023 Apr 18

Blood test could detect and monitor rare neurodegenerative disease SCA3

The results open the possibility of using 5 genes identified as markers that correlate with the severity of the disease in the brain. The `Neurodegenerative Diseases´ group of the Marqués de Valdecilla Health Research Institute (IDIVAL) led by Dr. Jon Infante Ceberio has participated in a european multicenter study with the aim of identifying genes […]




The research team from IDIVAL, HUMV and Sierrallana Hospital indicates that the results could help to prescribe the appropriate treatment and prevent complications.

Identifying the causes of the decrease in the concentration of phosphorus in the blood was the main objective of the study carried out by the research team belonging to the Marqués de Valdecilla Health Research Institute (IDIVAL), as well as to the Internal Medicine, Pediatrics, Clinical Analysis and Biochemistry, Genetics and Endocrinology Services of the Marqués de Valdecilla University Hospital (HUMV), and the Rheumatology and Clinical Analysis and Biochemistry Services of the Sierrallana Hospital.

Phosphorus is an element that plays an important role in the functioning of bone, muscle and other body tissues and until now, the origin of low blood levels, hypophosphatemia, was not completely defined. The findings of this study show the importance of considering the genetic causes in patients with this type of alterations since an accurate diagnosis could help to prescribe the appropriate treatment and prevent complications.

This project is one of the largest of its kind to date. In the research, the team reviewed more than 800,000 analytical results and more than 1,200 medical records, which led to the identification of 109 patients with persistent phosphorus depletion. After biochemical and hormonal studies, molecular analysis of DNA extracted from blood showed that there was a genetic alteration in 14 of these patients. In most cases the alteration was in genes that regulate the absorption of phosphorus in the intestine or its elimination by the kidney, but in some cases it was in other genes that were not known to be related to phosphorus levels in the blood.

 

Reference:  Puente-Ruiz N, Docio P, Unzueta MTG, Lavín BA, Maiztegi A, Vega AI, Piedra M, Riancho-Zarrabeitia L, Mateos F, Gonzalez-Lamuño D, Valero C, Riancho JA. Uncovering genetic causes of hypophosphatemia. J Intern Med. 2023 Mar 31.

New study reveals genetic causes of patients with reduced phosphorus levels

The research team from IDIVAL, HUMV and Sierrallana Hospital indicates that the results could help to prescribe the appropriate treatment and prevent complications. Identifying the causes of the decrease in the concentration of phosphorus in the blood was the main objective of the study carried out by the research team belonging to the Marqués de […]