MEMBERS

 

The Stroke pharmacogenomics and genetics research group (STROKEMICS) is a research group located at the Sant Pau Institute of Research (IIB) and Sant Pau Hospital. The aims of the group is understand the biological mechanisms of stroke and other neurological diseases. We use Wide Omics techniques such as genetics (GWAS), epigenetics (EWAS), proteomics (PWAS) and transcriptomics (TWAS) to study stroke risk and stroke outcome in order to find potential new treatments that could be used in the clinical practise.
 
We are also interested in Gut Microbiome, integromics analysis, Long COVID and monogenic rare diseases associated with stroke or dementia such as CADASIL, CARASIL, Moya Moya, among others.
The group participates in several international consortia being members of the executive and scientific committees.
 
Currently, it is actively collaborating in  the International Stroke Genetics Consortium, CADISP consortium, Host COVID-19 Host Genetics Initiative. Apart from the international consortia, the research group has been the founder and currently coordinates a state consortium known as Genestroke that encompasses the work of about 15 hospitals and research centers in Spain.
 
 
Israel Fernández Cárdenas

IP: Israel Fernández

 

Israel Fernández Cadenas is a Biologist and Head of the Pharmacogenomics and Genetics Group of the IIB Sant Pau and Sant Pau Hospital. He is the founder and coordinator of the Spanish Stroke Genetics Consortium (www.genestroke.com) and is the current Chair of the International Stroke Genetics Consortium (2021-2023) (ISGC https://www.strokegenetics.org). The ISGC is a consortium focused in the study of troke genetics with more than 200 members and research groups from five continents.

Israel Fernández is the co-Chair of the Acute endophenotypes working group of the ISGC and co-Chair of the Global Alliance of Acute and long term Outcome an initiative of the ISGC to study the genetics of stroke outcomes. He is member of different consortiums as the CADISP, ICPC or the COVID-19 Host Genetics Initiative (https://www.covid19hg.org).

Jara Cárcel
Sayoa Alzate
Cristina Gallego
Laia Llucià

 

Jara Cárcel

L1: Genetics risk and post-stroke evolution

Jara Cárcel-Márquez is a PhD in Medicine, especialised in Genetics. She defended her thesis entitled “Study of genetic risk factors associated with ischemic stroke” at the beginning of 2023.

During her PhD thesis she performed a research stay in the computer department of Università degli Studi di Milano Statale in which she learnednovel algorithms to analyse genomic data and perform risk scores.

She is currently performing her postdoc stage studying the interaction of the 3D genome and the genetic risk factors associated with short term outcome after stroke.

 

Sayoa Alzate

L1: Genetics risk and post-stroke evolution

She obtained her Bachelor’s degree in Biomedical Science with special mention in biomedical research in July 2022 at the International University of Catalonia (UIC). Nowadays, she is finishing her MSc in Advanced Genetics at the Autonomous University of Barcelona (UAB) and she has just started a project from La Marató titled “COVID-19 cardiometabolic and immune proteomic biomarkers for clinical evaluation on infection, disease severity and post-pandemic health complications” with it aims to characterize the effect of the genetic variation associated with the results of COVID-19 in the levels of circulating proteins to identify severity biomarkers and the clinical trajectory that would allow the improvement of the COVID-19 patients.

 

 

Cristina Gallego

L2: Epigenetics and biological age

Dr. Cristina Gallego-Fabrega is a postdoctoral researcher leading the Epigenetics and Biological Age research line at the Stroke Pharmacogenomics and Genetics Lab. Her academic background is in Biotechnology with a master in Analysis of OMIC Data. Cristina’s main research resides in deciphering how different DNA methylation profiles relate to complex diseases, with special focus in stroke risk and pharmacological treatment. Cristina is also interested in to leverage bioinformatic tools and computational approaches for the analysis of ‘omic data, to decipher the biological mechanism that contribute to cerebrovascular diseases as well as new computational approaches to exploit already existing ‘omic data using new analytical methodologies.

Cristina is an active member of the Spanish Stroke Genetics Consortium, and the Internattional Stroke Genetics Consortium. In the latter she is a member of the Early Career Researchers working group and the Global Alliance for stroke Outcome. To date, Cristina Gallego has published total of 32 papers, eight of them as first author, three in magazines of the first decile and four in magazines of the first quartile.

 

 

Laia Llucià

L3: tPA Pharmacogenetics and post Ictus Impairment

She built her biology basis at the Autonomous University of Barcelona (2019, UAB). Afterward, she specialized in Human Diversity and Biomedical Applications through an MSc in Biological Anthropology (2020, University of Barcelona -UB). She is interested in cerebrovascular disease research, omits data analysis and statistics. That is why she is finishing an MSc in Bioinformatics and Biostatistics (Universitat Oberta Catalunya – UOC-UB).

She worked for two-and-a-half years as a research support technician in the Stroke Pharmacogenomics and Genetics Group studying basis for the variability in immune response in severe SARS-CoV-2 infection. In February 2022, she started a PhD in the same group relying on genetic and proteomics studies on ischemic stroke outcomes.

 

Elena Muiño
Miquel Lledós
Jesús Martín
Natalia Culell

 

Elena Muiño

L4: CADASIL-SVD

Elena Muiño is a specialist in neurology, and had the opportunity to stay at the Lariboisière Hospital
Lariboisière Hospital in Paris, a reference center for rare cerebrovascular diseases in France where the team identified NOTCH3 as the cause of CADASIL.
She got her a master’s degree in Bioinformatics and Biostatistics at the UOC and is part of the
Pharmacogenomics and neurovascular genetics since 2014.

With the Rio Hortega contract (2019), she is starting a consultation of small vessel disease of genetic origin at the Hospital de la Santa Creu i Sant Pau, where a multidisciplinary team collaborates in the diagnosis, genetic counselling and accompaniment of asymptomatic patients and family members.

 

Miquel Lledós

L5: Microbiota and stroke

Miquel received his Bachelor’s in Biology at the University of Barcelona (UB) in 2018. A year later, he obtained his Master’s degree in Genetics and Genomics also at the UB. He is currently a fourth-year PhD student in Genetics at the UB funded with a PFIS Predoctoral contract from the Institute of Health Carlos III.

His research focuses on studying the microbiota-gut-brain axis mechanisms related to the neurological evolution after a stroke.

 

Jesús Martín

L6: Lipids and stroke

Jesús M. Martín-Campos has a PhD in Biology, specialized in Genetics, and is a biologist specialized in clinical biochemistry. For more than 20 years he has been working on the definition of the genetic basis of dyslipidemia and the development of laboratory techniques to improve its genetic diagnosis.

For two years he has been developing a project to determine the role of lipids in the risk and prognosis of different types of stroke, the risk of stroke associated with different dyslipidemia, and the possible differential mechanisms with respect to coronary artery disease.

 

Natalia Cullell

L7: Anticoagulants and Epi-exosomes

Natalia Cullell graduated in Human Biology in 2014 from Pompeu UniversityFabra (Barcelona, Spain). Later, she completed a master’s degree in Pharmaceutical and biotech Industry.
She is currently completing a PhD program in Medicine at the University of Barcelona in the neuroscience Mútua group at the Fundació Docència i Recerca Mútua Terrassa and in collaboration with the pharmacogenomics and neurovascular genetics group at Sant Pau Research Institute under the supervision of Dr. Israel Fernández-Cadenas and Dr. Jerzy Krupinski.

Her main area of study is the genomics, epigenomics and pharmacogenetics of neurovascular diseases, using multi-omics approach. She has recently found a strong DNA methylation pattern associated with stroke risk and has identified for the first time the association of the DNA methylation with the stroke outcome. She has participated in more than 40 scientific publications and she currently has an H-Index of 15. Natalia Cullell actively participates in the Spanish Consortium for the study of the Genetics of Stroke (GENESTROKE) and the International Stroke Genetics Consortium.

 

Elena Muiño
Laia Marine
Laia Marine
Laia Marine

 

Garbiñe Ezcurra

She obteined her Medicine Degree in 2017 by the Autonomus University of Barcelona (UAB) and became a specialist in neurology with special interest in cerebrovascular diseases. Currently she works as a pre-doctoral researcher integrated into the group, combining medical care as a member of the Stroke Unit of the Hospital de la Santa Creu i Sant Pau and collaborating with the PREVICTUS project, whose objective is to study the genetic, proteomic and clinical factors involved in the complications of reperfusion treatment of ischemic stroke.

 

Laia Marine

She obtained her degree in Biomedical Sciences with special mention in biomedical research in July 2022 at the International University of Catalonia (UIC). He is currently completing a Master’s degree in Advanced Genetics at the Autonomous University of Barcelona (UAB).

She is in a project at the Hospital del Mar Research Institute whose objective is to address the effect of activation and overexpression of hematopoiesis-inducing genes in embryonic stem cells. In addition, she has recently joined the Stroke Pharmacogenomics and Genetics Research Group (STROKEMICS) and the International Stroke Genetics Consortium (ISGC) as convener.

 

 

Paula Villatoro

Paula obtained her Bachelor’s in Biochemistry and Microbiology by University del Valle of Guatemala. In 2022 she obtained her Master´s degree in Therapeutic Targets and Cell Signalling by University of Álcala de Henares, and did her Master’s final thesis in post-stroke neurogenesis and cognitive impairment at CNIC in Madrid, where her interest in neurovascular diseases began and where afterwards she worked as a research support assistant.

She is currently a PhD candidate in Medicine at the group, funded with a predoctoral contract from the Joan Oró grant. Her research focuses on CADASIL, specifically in transcriptomics and proteomics studies for the search for biomarkers and therapeutic targets.

 

Paula Boldo

Paula obtained her Bachelor’s degree in Biomedical Sciences with a mention in biomedical research in July 2023 at the International University of Catalonia (UIC). She did her degree practices in the epigenetics research line at the Stroke Pharmacogenomics and Genetics Lab.

Currently, she is finishing a Master’s degree in Omics Data Analysis at Vic’s University (UVic).Simultaneously, she has recently joined the Stroke Pharmacogenomics and Genetics Research Group in the genetic risk factors line to conduct her thesis, thanks to the funding from the Gen-X project, which is supported by the TV3 marathon.