The second of the modules of the International Forum on Precision Medicine will begin on 28 February, focusing on clinical genomics. The forum is fully supported by the ITEMAS platform and the Biobanks and Biomodels platform of the Carlos III Health Institute and the Spanish Society of Clinical Pharmacology.

This course aims to address genomics from different disciplines and specialties of medicine: oncology, Alzheimer's, cardiology, pharmacology, ophthalmology, among others.

A programme with top-level speakers, internationally renowned experts in their respective fields of medicine. In the field of genetic and legal medicine, the participation of Dr. Ángel Carracedo, Coordinator of the Genomic Medicine Group of the University of Santiago de Compostela and of the Genomic Medicine programme (ISCIII IMPACT call) should be highlighted. Dr. Carracedo is a world leader in citations in the area of Forensic Medicine and is among the most cited authors in Molecular Biology with an average of over 2,000 citations/year. A leading researcher in the field of genetics and forensic medicine with numerous awards throughout his professional career, he will be in charge of opening the first debate of this forum.

The course is coordinated by Dr. José Luis Fernandez Luna, Coordinator of Genetics at the Marqués de Valdecilla University Hospital and Dr. Adrián Llerena, Professor of Clinical Pharmacology at the University of Extremadura; Director of the Institute of Biosanitary Research of Extremadura INUBE, University Hospital of Badajoz and President of the SEFF. Santiago García Blanco, Director General of Gigital Transformation and User Relations of the Regional Ministry of Health, will welcome and open this second module of the Precision Medicine Forum.  

The programme includes 10 sessions of debate and open dialogue with the attendees. The course is completely free of charge and is aimed at clinical, research and support staff with an interest in the field of genomics who would like to learn more about aspects related to research and precision medicine. 

The duration of the course is 20 hours from Monday to Thursday from 16:00 to 18:00, taught through the Zoom platform. The programme is endorsed by the CIEN Foundation and the CIBERER and is sponsored by Novartis and AMGEN.

Registration link:

https://aplicacionesidival.idival.org/ConvocatoriasPropias/es/Convocatorias/VerConvocatoria?Id=886

If you have any doubts or queries about this module or the general programme, please contact us by e-mail: proyectos1@idival.org

Brochure (pdf)

Additive manufacturing, also known as 3D printing, is a disruptive technology with a promising potential in the health sector.

The technology has not yet been fully integrated in hospitals and the health care sector. There are different reasons for this. Some of the barriers are the lack of knowledge and skills on the use of the technology, as well as a complex value chain requiring the cooperation of actors from different backgrounds. The ALADDIN project aims to tackle the gap in knowledge and help create a better cooperation among stakeholders, contributing to the integration of additive manufacturing in the health sector. 

ALADDIN is an ERASMUS + project that brings together six European organisations developing an innovative training programme on additive manufacturing in hospitals, targeting not only health professional working in hospitals, such as doctors, surgeons, and biotechnologists, but also engineering students with a future in the health sector.

By training these two key groups the project will ensure a better coordination and understanding between both sectors, an increase in the quality of the healthcare systems and competitivity of the additive manufacturing industry. Achieving the full incorporation of the technology in the health sector. ALADDIN will develop until September 2022 a training methodology, a teaching guide, training contents customised for each target group and an e-Learning platform.

In October 2021, the Exploitation and Sustainability Plan of the ALADDIN project was achieved. This plan reflects the project partners’ vision of the project results, potential and impact. It sets the targets and procedures for ensuring that the project’s results will be exploited after the project’s end. The plan also specifies the guidelines for the exploitation and transfer of the project’s results outside the original project consortium and duration.

The beginning of 2022 saw the development of the training methodologies. The teaching guide and the training contents are almost achieved. The ‘Train the trainers’ activities took then place in January and February 2022. The trainers are ready to pilot test the training contents.

Once completed with the results of the pilots, the training guide and the e-learning platform will be released and be made available to trainers.

Three multiplier events will take place in 2022 in the countries of the project (Spain, Belgium and Ireland) to present the training courses and guarantee that the project reaches the target groups.

From a motor point of view, Parkinson's disease has traditionally been classified into different clinical phenotypes, which may be associated with a different prognosis of the disease. Tremor-predominant subtypes have been associated with more favourable prognoses than non-tremor subtypes.

IDIVAL's neurodegenerative diseases group has been participating in the COPPADIS study since 2016. This study consists of a multicentre project involving 35 Spanish centres, based on the prospective follow-up of a large cohort of patients with Parkinson's disease for 5 years. The aim of this study is to deepen the knowledge of the different clinical, molecular, genetic and neuroimaging aspects that characterise Parkinson's disease, and to identify those factors that may influence clinical progression or the appearance of complications.

A study has recently been published in the Journal of Parkinson's Disease in which changes in motor phenotype over the course of disease progression were analysed. Patients were classified into 3 groups based on motor phenotype at baseline and 2-year follow-up: tremor-dominant (TD), postural instability and gait difficulty (PIGD) and indeterminate. A total of 511 patients with Parkinson's disease were included. At initial assessment, 47.4% corresponded to the tremor phenotype, 36.6% to PIGD, and 16% had an indeterminate phenotype. Up to 38% of patients changed their phenotype between baseline and 2-year assessment, most frequently from a tremor to an indeterminate phenotype (8.4%), and from tremor to PIGD (6.7%). Factors associated with a change from a tremorphic phenotype to another motor subtype were  A worse cognitive status (OR = 0.966) and less autonomy for activities of daily living (OR = 0.937) at V0 and a greater increase in the globalNMS burden (OR = 1.011) from V0 to V2 were associated with changing from TD to another phenotype after 2-year follow-up.

This paper concludes that the motor phenotype of Parkinson's disease changes with disease progression, increasing the percentage of cases with non-tremorphic subtypes. In addition, patients who switched from the tremor subtype to the PIGD phenotype had significantly increased non-motor symptom burden.

Reference: Santos García D, Canfield H, de Deus Fonticoba T, Cores Bartolomé C, Naya Ríos L, García Roca L, Martínez Miró C, Jesús S, Aguilar M, Pastor P, Cosgaya M, García Caldentey J, Caballol N, Legarda I, Hernández Vara J, Cabo I, López Manzanares L, González Aramburu I, Ávila Rivera MA, Gómez Mayordomo V, Nogueira V, Puente V, Dotor J, Borrué C, Solano Vila B, Álvarez Sauco M, Vela L, Escalante S, Cubo E, Carrillo Padilla F, Martínez Castrillo JC, Sánchez Alonso P, Alonso Losada MG, López Ariztegui N, Gastón I, Kulisevsky J, Blázquez Estrada M, Seijo M, Rúiz Martínez J, Valero C, Kurtis M, de Fábregues O, González Ardura J, Alonso Redondo R, Ordás C, López Díaz LM, McAfee D, Martinez-Martin P, Mir P; COPPADIS Study Group. Parkinson's Disease Motor Subtypes Change with the Progression of the Disease: Results from the COPPADIS Cohort at 2-Year Follow-Up. J Parkinsons Dis. 2021 Dec 21. doi: 10.3233/JPD-213004. Epub ahead of print. PMID: 34957949.