Assist. Prof. Dr. Xavier Altafaj | Cognitive Development | Best Researcher Award

University of Barcelona, Spain

Xavier Altafaj, PhD (b. Nov 16, 1974, Barcelona , is a neuroscientist and biomedical researcher with deep expertise in glutamatergic neurotransmission . A committed leader in translational research, he currently serves as Principal Investigator of the “Glutamatergic Receptors in Health and Disease” team and Lecturer under the Serra Húnter program at the University of Barcelona . With over two decades of international research spanning France , Belgium , and Spain, Dr. Altafaj has contributed to understanding synaptic function and pathologies in neurodevelopmental and neurodegenerative disorders . He is an active voice in European neuroscience, having collaborated in multiple EU networks and initiatives. His impactful work includes advancing treatments for rare pediatric diseases and conditions like GRIN-related encephalopathies and autism spectrum disorders . Through his scientific leadership and public engagement, he bridges basic research with clinical applications and patient advocacy, reflecting a career marked by innovation, mentorship, and societal relevance .

Profile

Scopus

Scholar

🎓Education 

Dr. Altafaj holds a PhD in Biological Sciences from the University of Barcelona (2002) , where he previously earned his B.Sc. in Biological Sciences (1997) alongside another B.Sc. from Université Libre de Bruxelles . His academic training reflects a strong international dimension, including early specialization in developmental genetics during an Erasmus fellowship in Belgium (1996–97) . His doctoral research at the Department of Molecular Genetics (IRO, Barcelona) involved collaborations with prominent institutions including the Cajal Institute in Madrid and ESPCI in Paris, combining molecular biology, pharmacology, and physiology . Supported by multiple European fellowships , his education laid the groundwork for his lifelong interest in synaptic signaling and ion channel pathophysiology. Dr. Altafaj’s cross-border scientific foundation shaped his capacity to lead innovative research that addresses complex neurobiological questions, from genetic mechanisms to therapeutic approaches for brain disorders , setting the stage for his later roles in translational neuroscience research and teaching .

🧪Professional Experience 

Dr. Altafaj is currently Principal Investigator (since 2011) and Serra Húnter Lecturer (since 2020) at the University of Barcelona’s Faculty of Medicine . From 2011–2020, he led the “Glutamatergic Receptors in Health and Disease” group at IDIBELL as a “Miguel Servet” Researcher . Prior to that, he was Principal Investigator (2008–2010) and Postdoc (2007) at CRG’s Gene Therapy team in Barcelona . His early postdoctoral research (2002–2006) took place in France at Inserm U-607/CEA-Grenoble, investigating calcium channel pathologies . As a PhD student (1997–2002), he trained in molecular genetics in Barcelona with various national and international collaborations. His research has spanned gene therapy, neurodevelopment, and synaptic disorders. Across academic and clinical research centers, Dr. Altafaj has consistently focused on molecular neurobiology and translational science. He’s an active member of European networks and regularly mentors graduate students, making him a pillar in biomedical research and education across Europe .

🏅 Awards & Honors 

Dr. Altafaj has earned prestigious competitive funding and honors across Europe, including multiple tenured “Miguel Servet” investigator positions (2008–2017) , and awards from Down Syndrome foundations for innovative gene therapy work . His projects have attracted major grants from institutions like the Instituto de Salud Carlos III, La Marató TV3, and European ERA-NET NEURON, totaling over €1.5 million in funding . He received early recognition with the Alfred Jost Award (2004, Serono)  and held numerous postdoctoral fellowships (Beatriu de Pinós, AFM, EU CORDIS) . Recent accolades include charity-funded studies for GRIN disorder stratification (GRI-Italia, Grinpatías), and collaborative grants on autism and rare encephalopathies . His leadership in research networks (MINECO, AGAUR) and role as PI in over 20 funded projects showcase his impact in translational neuroscience. These distinctions highlight his success in bridging clinical needs with basic research and improving therapeutic strategies for neurogenetic disorders .

🔬 Research Focus 

Dr. Altafaj’s research explores glutamatergic receptors (particularly NMDA) in health and disease, with an emphasis on synaptopathies, neurodevelopmental disorders, and rare encephalopathies such as GRIN-related syndromes . His lab investigates how mutations in genes like GRIN2B and CNTNAP2 disrupt synaptic signaling and contribute to conditions like autism, epilepsy, and intellectual disability . Using patient-derived models, proteomics, and pharmacological tools, his group develops personalized medicine strategies and functional stratification of variants . Ongoing work includes translational studies on l-serine and spermidine treatments, contributing to experimental therapies for pediatric patients . He also delves into the interaction between glutamate receptors and neuroinflammatory pathways, relevant in diseases like Alzheimer’s . His multidisciplinary approach merges genetics, molecular biology, and neuropharmacology, often in collaboration with clinicians and European consortia . Dr. Altafaj aims to bridge molecular mechanisms with clinical interventions, advancing therapeutic innovation and patient-centered research in neurology and psychiatry .

✅ Conclusion: 

Dr. Xavier Altafaj is a highly suitable candidate for a Best Researcher Award, especially in fields like translational neuroscience, molecular neurogenetics, or rare disease research. His long-term leadership, groundbreaking work on glutamatergic signaling, and consistent research funding validate his excellence in academia and applied health sciences. While there is room to amplify his global visibility and innovation footprint, his current record already reflects the high standards expected of award recipients.

Publication

• Title: Neurodevelopmental delay, motor abnormalities, and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down’s syndrome
  Authors: X. Altafaj, M. Dierssen, C. Baamonde, E. Martí, J. Visa, J. Guimerà, M. Oset, et al.
  Year: 2001
  Citations: 503

• Title: Dyrk1A expression pattern supports specific roles of this kinase in the adult central nervous system
  Authors: E. Martí, X. Altafaj, M. Dierssen, S. de la Luna, V. Fotaki, M. Alvarez, et al.
  Year: 2003
  Citations: 174

• Title: Interaction between the dihydropyridine receptor Ca2+ channel β-subunit and ryanodine receptor type 1 strengthens excitation-contraction coupling
  Authors: W. Cheng, X. Altafaj, M. Ronjat, R. Coronado
  Year: 2005
  Citations: 119

• Title: DYRK1A autophosphorylation on serine residue 520 modulates its kinase activity via 14-3-3 binding
  Authors: M. Alvarez, X. Altafaj, S. Aranda, S. de la Luna
  Year: 2007
  Citations: 107

• Title: Transduction of the scorpion toxin maurocalcine into cells: evidence that the toxin crosses the plasma membrane
  Authors: E. Estève, K. Mabrouk, A. Dupuis, S. Smida-Rezgui, X. Altafaj, D. Grunwald, et al.
  Year: 2005
  Citations: 103

• Title: Motor phenotypic alterations in TgDyrk1a transgenic mice implicate DYRK1A in Down syndrome motor dysfunction
  Authors: M. M. de Lagrán, X. Altafaj, X. Gallego, E. Martí, X. Estivill, I. Sahún, C. Fillat, et al.
  Year: 2004
  Citations: 102

• Title: Cloning and characterization of DYRK1B, a novel member of the DYRK family of protein kinases
  Authors: S. Leder, Y. Weber, X. Altafaj, X. Estivill, H. G. Joost, W. Becker
  Year: 1999
  Citations: 97

• Title: Normalization of Dyrk1A expression by AAV2/1-shDyrk1A attenuates hippocampal-dependent defects in the Ts65Dn mouse model of Down syndrome
  Authors: X. Altafaj, E. D. Martín, J. Ortiz-Abalia, A. Valderrama, C. Lao-Peregrín, et al.
  Year: 2013
  Citations: 96

• Title: Targeting Dyrk1A with AAVshRNA attenuates motor alterations in TgDyrk1A, a mouse model of Down syndrome
  Authors: J. Ortiz-Abalia, I. Sahún, X. Altafaj, N. Andreu, X. Estivill, M. Dierssen, C. Fillat
  Year: 2008
  Citations: 91

• Title: Glutamate receptor mutations in psychiatric and neurodevelopmental disorders
  Authors: D. Soto, X. Altafaj, C. Sindreu, À. Bayés
  Year: 2014
  Citations: 89