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VII International ALS meeting in Spain: 30 years learning about ALS: new scenarios and challenges

Life and Matter Sciences Session Wednesday, 4 October 2023, 16:00 hours Madrid

General information:

Venue: Fundación Ramón Areces - salón de actos. Calle Vitruvio, 5. 28006. Madrid.

Free admission. Necessary previous online registration. Limited capacity.

Organized by:

Fundación Ramón Areces y Fundación Luzón

Multimedia

VII Encuentro Internacional de la ELA en España (VO)

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VII Encuentro Internacional de la ELA en España 30 años de aprendizaje sobre la ELA Inglés

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Description
Programme
Speaker/s

2023 es el 30 aniversario del descubrimiento del gen SOD1 como causante de ELA familiar. Si bien es cierto que en 2018 la temática de la Jornada Areces fue la genética, desde entonces la situación ha cambiado mucho. Nos encontramos en otro escenario terapéutico con nuevos genes descritos y con ensayos clínicos que comienzan a emplear terapias génicas. Además, en la actualidad, la epigenética y la metagenómica están en el día a día de discusiones científicas. Por lo tanto, en este VII Encuentro Internacional de la ELA en España que organizamos conjuntamente las fundaciones Luzón y Ramón Areces, hablaremos de genes y polimorfismos, de biomarcadores y epigenética, de avances genéticos en el diagnóstico, tratamiento y modelos animales desde esta nueva perspectiva y exponiendo los retos a los que nos enfrentamos en la actualidad.

Wednesday, 4 October

15:30 h.

Attendees check-in

16:00 h.

Opening Ceremony

Raimundo Pérez-Hernández y Torra
Director General. Fundación Ramón Areces.

María José Arregui Galán
Presidenta ejecutiva. Fundación Luzón.

16:10 h.

Short talk 1: Genes

Jan Veldink
Utrecht University, Project Mine team.

In this session we will talk about genes and polymorphisms that determine both familiar and sporadic ALS. This is the main objective of the ambitious Project Mine, so its evolution, approach, and future development will be discussed.

16:30 h.

Short talk 2: Biomarkers

Michael Benatar (online speaker)
The University of Miami.

Biomarkers are an essential tool for therapy development in ALS. They might facilitate early diagnosis, and early access to treatment. Moreover, they can add prognostic value and potentially serve as response biomarkers, making clinical trials more efficient. These issues will be discussed, with a special focus on the management of presymptomatic family members of patients with ALS.

16:45 h.

Short talk 3: Epigenetics

Axel Freischmidt
Ulm University.

The sequence in which our genetic material is written, the words, is the focus of genetics. But another fundamental aspect of great relevance in the development of complex diseases is how these words are underlined, capitalized, given greater or lesser relevance with font size, or directly crossed out, and that is the focus of epigenetics. The different symptomatological characteristics between different patients, even within the same family, may be determined by the epigenetic characteristics of each individual, and even of each tissue. Its study will undoubtedly lead to a better understanding of the differences between patients, and to the development of better targeted and more personalized therapies.

17:05 h.

Q&A

17:15 h.

Break

17:30 h.

Round table: Genetic therapies in ALS, preclinical and clinical trials

Moderator:

Alberto García Redondo
Hospital Universitario 12 de Octubre, Madrid.

Participants:

Jan Veldink
Utrecht University, equipo Project Mine.

Michael Benatar
The University of Miami.

Axel Freischmidt
Ulm University.

Ana Cristina Calvo Royo
Universidad de Zaragoza.

Pol Andrés Benito
Hospital de Bellvitge. L'Hospitalet de Llobregat, Barcelona.

Juan Francisco Vázquez Costa
Hospital Universitario y Politécnico La Fe, Valencia.

After the analysis of the current situation of genetics in ALS in the previous talks, we will address challenges and future perspectives, and propose solutions in a round table discussion in which preclinical studies, diagnosis, treatment, and clinical trials will be discussed.

18:50 h.

Q&A

19:05 h.

Closing ceremony

Jan Veldink

The overall aim of his research is to understand genetic and environmental causes of ALS and related diseases, and to understand how one mutation can be manifested into several clinical outcomes.

He has been involved in developing technilogical innovations, like a custom reference panel that allowed the detection of rare genetic variations, and a tool to detect the C9orf72 repeat expansion in WGS data, or other large repeat expansion in other diseases. Currently, he is leading a large-scale international collaboration (Project MinE, www.projectmine.com).

This project is in the process of whole-genome sequencing 15,000 ALS cases, and 7,500 population-matched controls (with > 10,000 genomes completed already). Upon completion, the project will have standardized phenotype information, whole-genome sequence data, SNP-array data, and methylation data for every sample. He has also successfully implemented a shared international clinical database containing detailed core clinical data and data on environmental exposures and lifestyle factors on thousands of international samples.

Michael Benatar

Michael Benatar is a Professor of Neurology and of Public Health Sciences, Chief of Neuromuscular Division, and Vice Chair for Clinical and Translational Research in the Department of Neurology. He is the Walter Bradley Chair in ALS Research and the Executive Director of the ALS Center at the University of Miami.

He is internationally known for his pioneering work in defining the field of pre-symptomatic ALS, including discovery of the first biomarker of pre-symptomatic disease that has been critical to the design and initiation of the first pre-symptomatic ALS trial. He has also been a thought leader in challenging existing paradigms for pre-clinical therapeutic studies; shaping how we conceptualize and use biomarkers for therapy development and clinical trial design.

He leads the Pre-Symptomatic Familial ALS (Pre-fALS) study, which he initiated in 2007, and the CReATe Consortium, a 35-center network focused on therapy development for ALS and related disorders.

Axel Freischmidt

His research group focuses on the genetics, epigenetics and molecular mechanisms of amyotrophic lateral sclerosis (ALS). They use whole exome sequencing of ALS patients with a family history of ALS to identify new genes and variants associated with this disease.

In addition, he is interested in the downstream effects of such genetic mutations, and also in the functional consequences of epigenetic alterations to better understand the pathogenesis of ALS. His great work uncovered TBK1 as a novel gene causing ALS and frontotemporal dementia. In addition, his research group also focuses on the role of microRNAs in the development of ALS.

Ana Cristina Calvo Royo

Professor of the Department of Anatomy, Embryology, and Animal Genetics at the University of Zaragoza. Her line of work within the TERAGEN group, led by Dr. Osta, focuses mainly on the research of prognostic biomarkers both in animals and in ALS patient samples. In 2014, she coordinated as the main editor a special issue on biomarkers in ALS in the journal Biomed Research International.

Pol Andrés Benito

Researcher in the Neurological Diseases and Neurogenetics group at the Bellvitge Biomedical Research Institute, and Bellvitge University Hospital. His line of work within the group focuses on the study of new diagnostic and prognostic biomarkers of neurological diseases, as well as the study of the underlying molecular alterations in neurodegenerative diseases.

Juan Francisco Vázquez Costa

Coordinator of the Motor Neuron Diseases Unit at La Fe Hospital in Valencia, and Associate Professor of Neurology at the University of Valencia. In addition, he is a Principal Investigator of the Research Group on Neuromuscular Pathology and Ataxias (GIPNMA) of the Research Foundation at La Fe Hospital. He has participated as a researcher in more than 20 clinical trials of dementia and neuromuscular diseases, and as principal investigator in two clinical trials of ALS.

Alberto García Redondo

Principal Investigator of the ALS Research Laboratory of the Health Research Institute at the 12 de octubre University Hospital in Madrid. His team works together with the ALS Unit of the hospital, responsible for the monitoring, treatment, and support of ALS patients. His line of work is a national and international reference in the molecular diagnosis of ALS, frontotemporal dementia, and other neuromuscular pathologies.

In addition, he is an Associate Professor at the Department of Biochemistry and Molecular Biology, in his section of the Faculty of Pharmacy at the Complutense University of Madrid.