Award 2025

Qihui Zhou

Qihui Zhou, Group Leader, German Center for neurodegenerative diseases (DZNE), Munich, Germany. Cause and consequence of γδT17 cell recruitment in C9orf72 ALS.

Qihui Zhou obtained her PhD with highest distinction (summa cum laude) from the Ludwig-Maximilian-University to study microRNAs regulating human regulatory T cell function, providing insights into immune dysregulation in disease. With consistent interest in translational research, she joined the lab of Prof. Dieter Edbauer at DZNE to devote herself to ALS research. She made important contributions to understanding the disease pathological mechanism of C9orf72 ALS – a most common genetic cause of ALS driven by the GGGGCC hexanucleotide repeat expansion. The Zhou team integrates T-cell–focused mechanistic immunology and the development of an active vaccine now advancing toward clinical translation. Her work was recognized by many awards, including the ERC Starting Grant, the ENCALS young investigator award, Ono Pharm rising star, among others. She and her team will try to unravel the cause and consequence of γδT17 cell recruitment in C9orf72 ALS.

Dr. Patrick Lüningschrör

Patrick Lüningschrör, Department of Biochemistry I – Cell Biochemistry, Bielefeld University, Germany. Perisynaptic Schwann cells – the missing link in the pathophysiology of Amyotrophic Lateral Sclerosis.

Patrick Lüningschrör obtained his PhD in 2012 at Bielefeld University in the lab of Christian Kaltschmidt. As a postdoctoral fellow, he joined the lab of Michael Sendtner at the Institute of Clinical Neurobiology, University Hospital Würzburg. In 2019, he started his independent research group at the same Institute. As of 2026, Dr. Lüningschrör will join the newly established Department of Cell Biochemistry at Bielefeld University as a Senior Scientist with Markus Damme as head.

The work of Dr. Lüningschrör’s group focuses on presynaptic autophagy and its contribution to the pathophysiology of motor neuron disease. The main goal of his team is to unravel how motor neuron activity is linked to protein turnover and how a disruption of this connection contributes to motor neuron degeneration. Understanding how secretory autophagy drives non-cell-autonomous effects in ALS represents another central theme of the group. The research projects utilize a variety of experimental approaches, ranging from mouse models to iPSC-derived motor neurons and neuromuscular co-culture systems.

The project funded here aims to shed light on ALS-related, cell-intrinsic pathophysiological changes in perisynaptic Schwann cells and their contribution to non-cell-autonomous motor neuron dysfunction and degeneration.

Award 2024

Prof. Sabine Liebscher

Prof. Sabine Liebscher, Professor for Systems Neurobiology, Medical University of Innsbruck, Innsbruck, Austria & Group leader, Institute of Clinical Neuroimmunology, Medical University of Munich, LMU, Munich, Germany. Deciphering the causes and consequences of noradrenaline deficiency in ALS on cortical circuits and disease progression.

Sabine Liebscher obtained her MD from the Technical University of Dresden, Germany before joining the Lab of Paul Greengard, New York, USA in 2007. She then pursued her PhD at the Ludwig-Maximilians University Munich (lab of Christian Haass) and the Max Planck Institute of Neurobiology (lab of Tobias Bonhoeffer) in Munich, Germany. In 2014 she became a Clinicial Scientist group leader at the University hospital Munich, Germany and started her own independent group in 2017 (Emmy Noether group leader) at the same institution in 2017. In 2023 she was appointed as W2 Professor for Cellular Neurophysiology at the University of Cologne, Cologne, Germany and as of 2025 Sabine Liebscher is a professor and the director of the Institute of Systems Neurobiology at the Medical University of Innsbruck, Austria.

The Liebscher lab investigates circuit mechanisms of ALS to understand how molecular alterations, such as for instance ER stress or cytoplasmic aggregates, affect individual neurons and glia cells and entire neural circuits to drive neurodegenerative processes and cause symptoms typical of ALS/FTD. To this end, the work relies strongly on in vivo two-photon imaging in behaving mice complemented by tracking of behavior, transcriptomic and proteomic analyses and cell-type specific genetic manipulations in rodent models of the disease. Together with neuropathologists and clinicians we validate our findings in human tissue and set out to improve diagnostic and therapeutic approaches in ALS/FTD. In the here funded project, we will together with the lab of Caroline Rouaux, unravel the role of the recently observed noradrenergic deficit in ALS for circuit function and its underlying cell-type specific molecular alterations.

Dr. Caroline ROUAUX

Dr. Caroline ROUAUX, Inserm Research Director, Leader of the ALS/FTD team, Strasbourg translational neuroscience and psychiatry (STEP, Inserm U1329), Centre de Recherche en Biomédecine de Strasbourg (CRBS), Université de Strasbourg, Strasbourg, France. Deciphering the causes and consequences of noradrenaline deficiency in ALS on cortical circuits and disease progression
Caroline ROUAUX’s work has always been devoted to amyotrophic lateral sclerosis (ALS) research. During her PhD in Strasbourg, she studied epigenetic regulations of motoneuron (MN, or lower motor neurons) survival, and tested neuroprotection by HDAC inhibitors. As a postdoc in the Arlotta lab at Harvard University, she then unravelled the mechanisms of corticospinal neuron (CSN, or upper motoneurons) generation, and developed in vivo neuronal programming and reprogramming strategies. In 2013, Caroline obtained a tenured position at Inserm and soon after a prestigious ERC Starting Grant and established herself as an independent PI in Strasbourg University. The research projects of her team directly question the contribution of the cerebral cortex to the onset and progression of ALS, by combining complementary technical approaches such as genetics, transcriptomics, molecular biology and electrophysiology, employed both on volunteer ALS patients and control individuals, as well as on preclinical models of the disease.

Professor Magdalini Polymenidou

Professor Magdalini Polymenidou, Department of Quantitative Biomedicine, University of Zurich, Switzerland. Stabilizing Physiological TDP-43 Oligomerization to Reverse Neurodegeneration

Magdalini Polymenidou is Associate Professor of Biomedicine at the Department of Quantitative Biomedicine of the University of Zurich (UZH). She joined UZH as an Assistant Professor in 2013 and since then, her research team studies the molecular mechanisms of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Her team combines structural and biochemical analyses with cellular assays and animal models to identify new therapeutic targets from ALS and FTD. Her work was recognized by many awards, including the ERC Consolidator Grant, the NIBR Global Scholars Award, the Georg-Friedrich Götz Prize, and the EMBO Young Investigator Award, among others.

Originally trained as a pharmacist in Aristotle University of Thessaloniki (Greece), she did her PhD on prion diseases in the laboratory of Adriano Aguzzi at the University Hospital of Zurich (Switzerland). Polymenidou’s early work showed that induction of protective anti-PrP immune responses in wild-type mice is practically impossible due to the tightly regulated mechanism of tolerance against the cellular prion protein or PrPC. She also studied the result of repeated cytidyl-guanyl oligodeoxynucleotides (CpG-ODN) treatment, which was proposed to be effective for prion diseases. She demonstrated the toxic effects of long-term CpG-ODN treatment and identified the molecular determinants of these consequences. Polymenidou developed a panel of monoclonal antibodies directed against a variety of epitopes on the prion protein, which enabled the definition of a novel molecular classification of human prion diseases.

As a postdoctoral fellow in the group of Don Cleveland at the University of California in San Diego (USA), she used genome-wide approaches to understand the function of the RNA-binding proteins TDP-43 and FUS, which play key roles in the pathogenesis of ALS and FTD. She made important contributions to our understanding of TDP-43 pathophysiology including the initial identification of its RNA targets in the normal brain, a study that signified a major first step in understanding its normal function, whose perturbation is a key step in disease. Since 2013, her independent research team studies the molecular mechanisms of ALS and FTD combining structural and biochemical analyses with cellular assays and animal models aiming to identify new therapeutic targets for these diseases. The Polymenidou team explored the neuropathological heterogeneity of TDP-43 and provided evidence for the existence of “TDP-43 strains”. Her lab solved the high-resolution structure of the N-terminal domain (NTD) of TDP-43 and showed that NTDs from neighboring TDP-43 molecules interact to form physiological self-oligomeric structures in cells. The formation of these physiological oligomers is necessary for the normal splicing regulation by TDP-43. Importantly, the study demonstrated that this physiological TDP-43 oligomerization antagonizes its pathological aggregation. The team has also developed tools to detect and quantify physiological oligomerization and aggregation in cells. In recent work, the team has developed iNets, a highly reproducible and long-lasting human neural culture model that effectively simulates neurodegeneration, and identified NPTX2 as a novel crucial player in TDP-43 proteinopathies.

Award 2023

Dr.Jeehye PARK

Jeehye PARK, Genetics and Genome Biology Program, The Hospital for Sick Children & Associate Professor, Department of Molecular Genetics University of Toronto, Ontario, Canada. Investigation of the role of disease-associated microglia (DAM) in ALS pathogenesis.

Dr. Jeehye Park is a Senior Scientist in the Genetics and Genome Biology Program at Sick Kids Research Institute and an Associate Professor in the Department of Molecular Genetics at University of Toronto. She is a Canada Research Chair (Tier 2) in Molecular Genetics & Neurodegenerative Diseases.

Dr. Park received PhD from Dr. Jongkyeong Chung lab at Korea Advanced Institute of Science and Technology (South Korea), where she studied the molecular mechanism of Parkinson’s disease. She completed postdoctoral training in Dr. Huda Zoghbi lab at Baylor College of Medicine (Houston, USA) and studied spinocerebellar ataxia type 1.

Park lab currently focuses on studying the molecular mechanism of a neurodegenerative disease, amyotrophic lateral sclerosis (ALS), utilizing a multi-disciplinary approach including biochemistry, molecular cell biology and fly and mouse genetics to ultimately improve understanding of the disease and develop therapeutic strategies. Recently, Park lab established an ALS model, MATR3 S85C knock-in mice, that closely mimics the human disease genotype and phenotype, offering enhanced disease relevance compared to existing models in the ALS field and providing an unprecedented opportunity to study the early-stage development and progression of ALS. Using this mouse model, they will 1) identify the early disease events in the disease process, 2) determine the role of disease-associated microglia (DAM) during early disease progression and 3) determine how the ALS-linked mutation alters MATR3 function and properties to cause neurodegeneration. Their findings will uncover the early disease process, which may change the view of how ALS develop and progress. Defining the key early events will facilitate the development of early prevention and intervention strategies for ALS.

Prof. Steven Boeynaems

Steven Boeynaems, Assistant Professor in Molecular & Human Genetics, Baylor College of Medicine – Texas Children’s Hospital, Texas, USA. Dissecting the role of lipoprotein and Toll-like receptors in ALS innate immune signaling
Steven Boeynaems obtained a B.Sc. and M.Sc. degree in Bioengineering at KU Leuven, before receiving his Ph.D. in Biomedical Sciences in 2017 working in the Ludo Van Den Bosch lab at KU Leuven and the Flemish Institute for Biotechnology (VIB) in Belgium. He joined the Aaron Gitler lab at the Genetics Department of Stanford University as an EMBO Long-Term Fellow for his postdoctoral work. In 2022, Steven became an Assistant Professor at the Department of Molecular and Human Genetics at Baylor College of Medicine and an Investigator at the Jan and Dan Duncan Neurological Research Institute at the Texas Children’s Hospital in Houston. He is a CPRIT scholar, and a member of the Therapeutic Innovation Center, the Dan L Duncan Comprehensive Cancer Center, and the Center for Alzheimer’s and Neurodegenerative Disease.

In the Boeynaems lab, we aim to understand how cells and organisms sense and respond to cellular stress, which remains a poorly understood area of cell biology. Over the years, this has led us to study a variety of stress paradigms in physiology and disease with an emphasis on the role of tandem repeats, intrinsically disordered proteins, and biomolecular condensates. Our goal is to create biosynthetic and -mimetic tools for synthetic biology, and to translate fundamental biological insights into novel therapeutic approaches for human diseases. We have specifically focused our attention on a spectrum of neurodegenerative diseases that centers on amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Our work has contributed deep insights into the role of condensates in the development of the hallmark protein aggregation pathology, we have implicated nucleocytoplasmic and axonal transport defects in ALS disease etiology, and we have identified new genetic risk factors and promising targets for therapeutic modulation.

Steven Boeynaems obtained a B.Sc. and M.Sc. degree in Bioengineering at KU Leuven, before receiving his Ph.D. in Biomedical Sciences in 2017 working in the Ludo Van Den Bosch lab at KU Leuven and the Flemish Institute for Biotechnology (VIB) in Belgium. He joined the Aaron Gitler lab at the Genetics Department of Stanford University as an EMBO Long-Term Fellow for his postdoctoral work. In 2022, Steven became an Assistant Professor at the Department of Molecular and Human Genetics at Baylor College of Medicine and an Investigator at the Jan and Dan Duncan Neurological Research Institute at the Texas Children’s Hospital in Houston. He is a CPRIT scholar, and a member of the Therapeutic Innovation Center, the Dan L Duncan Comprehensive Cancer Center, and the Center for Alzheimer’s and Neurodegenerative Disease.

In the Boeynaems lab, we aim to understand how cells and organisms sense and respond to cellular stress, which remains a poorly understood area of cell biology. Over the years, this has led us to study a variety of stress paradigms in physiology and disease with an emphasis on the role of tandem repeats, intrinsically disordered proteins, and biomolecular condensates. Our goal is to create biosynthetic and -mimetic tools for synthetic biology, and to translate fundamental biological insights into novel therapeutic approaches for human diseases. We have specifically focused our attention on a spectrum of neurodegenerative diseases that centers on amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Our work has contributed deep insights into the role of condensates in the development of the hallmark protein aggregation pathology, we have implicated nucleocytoplasmic and axonal transport defects in ALS disease etiology, and we have identified new genetic risk factors and promising targets for therapeutic modulation.

Award 2022

Dr Alan Yu

Chien-Hsiung (Alan) Yu, PhD, Laboratory Head, The Florey Institute of Neuroscience and Mental Health, Melbourne, Australia. Mapping immune-mediated neurodegenerative cascades to elucidate the causes of ALS

Dr Alan Yu is Head of the Neuroinflammation Laboratory at The Florey Institute of Neuroscience and Mental Health. He received his PhD from The University of Queensland Diamantina Institute (UQDI) in 2015, for studying the inner workings of the innate immune systems upon bacterial infection under co-supervision of Prof. Antje Blumenthal and Prof. Ian Frazer. In 2016, he proposed to investigate the biology behind neurodegenerative processes through the lens of innate immunology, earned a highly prestigious 5-year WEHI Centenary Fellowship and started his postdoctoral training in the laboratory of Prof. Seth Masters.

During this time at WEHI, Dr Yu’s research into the toxicity of TDP-43 has led to a shift in thinking on how this central ALS player (1) causes mitochondrial DNA (mtDNA) release into the cytoplasm (2) via the mitochondrial permeability transition pore (mPTP), (3) activates the cGAS/STING-related inflammatory responses that eventually leads to neurodegeneration. Excitingly, his team found that the blockade of STING reduced neurodegeneration in vivo, and in patient iPSC-derived motor neurons. This highlights the underappreciated importance of the innate immune system in ALS.

Dr Yu was strategically recruited to the Florey Institute in late 2021. Dr Yu aspires to establish an interdisciplinary research program that brings expertise in biomedical/clinical sciences, computational biology and an entirely novel spatial multi-omics technology via partnership with world-class leaders to transform the way we perceive the cause(s) and pathogenesis of ALS, with clinical impacts.

Dr Yu has received grants from the NHMRC (Ideas Grant and Investigator Grant), a Medicine/Science Grant from the CASS Foundation, and has been nominated by the WEHI Director for 2021 Australian Museum Eureka Prize for Outstanding ECR, based on his achievements in ALS research.

Dr. David Brenner

David Brenner (MD) Neurology Department, Ulm University and Alberto Catanese (PhD) Junior Faculty, Anatomy and Cell Biology Institute, Ulm University, Germany. Deciphering amyotrophic lateral sclerosis linked to NEK1 mutations.

Dr. Brenner studied medicine at the Ruprecht-Karls-Universität Heidelberg. In his MD thesis at the German Cancer Research Center Heidelberg he examined the pathogenic role of the CD95 system in circulating myeloid cells in a mouse model for Parkinson’s disease in the group of Prof. Dr. Ana Martin-Villalba. He obtained postdoctoral training at Prof. Jochen Weishaupt’s lab in Ulm and Mannheim. During this period, he contributed to the identification of the ALS genes NEK1 and KIF5A, and studied the downstream effects of haploinsufficiency of TBK1 in transgenic mouse models.

He completed his neurological specialization at the Neurological University Hospital of Ulm headed by Prof. Albert Ludolph. After a stay at the Neurological University Hospital of Mannheim he recently returned to Ulm as a senior physician to start his own research group. A major focus of his research is to eludicate the molecular mechanisms behind ALS associated with mutations in the NEK1 and TBK1 genes.  He is supported by the Frick Foundation, the German society for neuromuscular diseases and the Thyssen Foundation.

Dr. Alberto Catanese

Dr. Alberto Catanese is a life scientist who developed strong expertise in iPSC-derived models of neurodegeneration. After his undergraduate studies in Italy, he moved to Germany where he obtained his PhD in Molecular Medicine in 2019. Since 2021, he leads a Junior Research Group at the University of Ulm within the Institute of Anatomy and Cell Biology led by Prof. Dr. Böckers. The main goal of his investigation is to elucidate the pathological features and pathomechanisms commonly shared by ALS patients independently from the underlying genetic causes of the disease.
His research combines 2D neuronal cultures, cerebral and spinal organoids from hiPSCs with multi-omics approaches to uncover the pathologic alterations that drive neurodegeneration, with particular focus on synaptic aberrations and catabolic dysfunctions. Besides the Frick Foundation, his research receives support from the German Research Foundation (Deutsche Forschungsgemeinschaft) and the Else Kröner-Fresenius Foundation.

Both scientists recently teamed-up with the goal to identify the molecular mechanisms underlying ALS linked to mutations in the NEK1 gene (NEK1-ALS). To that end they use multi-omic and hypothesis-driven differential analyses of isogenic and patient-derived iPSC-derived motor neurons bearing NEK1 loss-of-function and missense variants followed by validation in CNS autopsy tissue from NEK1-ALS patients (cooperation with the University of Umea). The project will provide important mechanistic insights into NEK1-ALS with the potential to impact genetic counselling of variants of uncertain significance and fuel the identification of specific biomarkers and pharmacological targets for future clinical trials for NEK1-ALS.

Award 2021

Dr. Lewandowski

Sebastian LEWANDOWSKI, PhD Karolinska Institute, Department of Clinical Neuroscience,Center for Molecular Medicine, Stockholm, Sweden. Asymptomatic ALS – role of perivascular fibroblast cells in immune infiltration.

Sebastian Lewandowski received his undergraduate degree from the University of Gdansk and obtained his PhD in molecular biology from the Nencki Institute of Experimental Biology in Warsaw. He performed his postdoctoral training at laboratory of Prof. Ulf Eriksson at the Karolinska Institute. Dr Lewandowski is a member of the Swedish Medical Association, Swedish Society for Neuroscience and a steering group member of the junior faculty at the Karolinska Institute. In addition to the support from the Frick Foundation his group is supported by the Ulla-Carin Lindquist Foundation for ALS, Swedish Research Council and the Olle Engkvist Foundation.

Dr. Lewandowski’s research aims to explain the interdependence between the neuronal and vascular cells. His recent work has shown that brain vascular fibroblasts are activated before the onset of neuroinflammation and neurodegeneration in ALS (Månberg et al Nature Medicine 2021). This early induction of brain fibroblast cells can remodel the structure and function of cerebral blood vessels with dramatic consequences for the stressed neurons in ALS. Activated vascular cells also provide a novel source of prognostic biomarkers to improve the prediction of life expectancy at ALS diagnosis. In the long term, the inclusion of vascular injury biomarkers could improve the design and interpretation of ALS clinical trials. His future studies aim to identify novel mechanisms of neurovascular co-dependence in ALS with goals to refine our understanding of ALS etiology, clinical prognosis and therapy.

Dr. Daniel Mordes

Daniel Mordes MD, PhD, Assistant Professor, Dept. Pathology, Institute for Neurodegenerative Diseases, UCSF, San Francisco, CA. A proteogenomic approach to investigate selective autophagy in ALS
Daniel Mordes is Assistant Professor in the Department of Pathology and an investigator in the Institute for Neurodegenerative Diseases at the University of California, San Francisco. Dr. Mordes completed clinical training in neuropathology at Massachusetts General Hospital, and then performed post-doctoral studies in the laboratory of Professor Kevin Eggan at Harvard University. In the Eggan lab, he studied how loss-of-function and gain-of-function mechanisms associated with a hexanucleotide repeat expansion in C9ORF72 contribute to ALS in mouse and human stem cell-derived models and patient nervous system tissue samples. Working with collaborators at the Mayo Clinic and Univ. Penn., he found specific gene expression changes in the brains of C9ORF72-ALS/FTD patients that were consistent with the activation of a HSF1-associated transcriptional response and a disruption of protein homeostasis. These studies also provided candidate biomarkers for ALS. He took his M.D. and Ph.D. in Biochemistry from Vanderbilt University School of Medicine, where his dissertation studies focused on understanding how key protein kinases are activated in the DNA damage response, which is disrupted in cancer and neurodegeneration. He has served as a clinical neuropathology fellow for the Massachusetts Alzheimer’s Disease Research Center and as a neuropathologist for the Harvard Brain Tissue Resource Center.

His recent research efforts have involved the characterization of the cellular effects of dipeptide repeat proteins associated with the C9ORF72 repeat expansion. Additionally, his lab is focused on understanding how perturbations in autophagy-associated pathways, which act to maintain protein homeostasis, can lead to familial forms of ALS. With the Frick Foundation, he aims to develop new models for these types of ALS using human stem cell lines. Overall, the goal of his lab is to investigate the pathogenesis of neurodegenerative diseases to facilitate the development of targeted therapies. His research has also been recognized by awards from the ALS Association, the Multiple System Atrophy Coalition, and the National Institute of Neurological Disorders and Stroke.

Award 2020

Drs. Kevin P. Kenna

Drs. Kevin P. Kenna, Assistant Prof., Univ. Medical Center, Utrecht, NL & James Mills, Principal research fellow, Department of Clinical and Experimental Epilepsy, UCL, London, United Kingdom & Dept Neuropathology, Academic Medical Center, Amsterdam : Integrating genetics & neuropathology to identify causal RNA dysregulations in ALS

Dr Kevin Kenna is an assistant professor at the University Medical Centre Utrecht (Netherlands). He received his PhD from Trinity College Dublin (Ireland) in 2015, for analyses of rare genetic variation across genes, networks and biological pathways implicated in amyotrophic lateral sclerosis (ALS). He conducted his postdoctoral training at the University of Massachusetts Medical school, in the laboratory of Prof John Landers.

During this time, Dr Kenna worked to develop methods for the integration and analysis of large exome sequencing datasets (>20,000 ALS patients/ healthy controls). Through rare variant analyses of >1,100 familial ALS exomes, Dr Kenna’s work led to the discovery of TUBA4A, NEK1 and KIF5A as novel ALS susceptibility genes. These findings were substantiated using additional exome, GWAS and genome sequencing datasets which revealed that patients can carry a range of higher frequency low impact risk variants (< 2 fold risk increase) as well as ultra rare high impact mutations that associate with specific clinical subtypes of ALS. The work also provided new insights into the contributions of cytoskeletal defects, neuronal transport, DNA damage and cilia function in ALS.

As a group leader, Dr Kenna continues to work on using genomic technologies to guide translational research and informative genetic testing in ALS. His group combines advanced computational techniques with genetic methods and multi-omic profiling of human post mortem tissue and stem cell models. In particular, Dr Kenna is focused on extending his work to the 98.5% of human genetic variants with effects in the non-coding genome. He does this in close collaboration with project MinE, the Dutch ALS centre and additional collaborators in Europe and the US.

Dr Kenna has received a vidi award from ZonMW, compute grants from NWO and additional funding awards from the Dutch ALS foundation (ALS Stichting).

Dr. James Mills

Dr James Mills is a principal research fellow who holds a dual posting at the University College London (United Kingdom) and the Amsterdam University Medical Centre (Netherlands). He received his PhD in 2016 from the University of New South Wales (Australia) for his research that focused on the role of non-coding RNAs (previously classified as “junk” RNA) in the evolution of the brain in the context of neurodegenerative diseases.
Here, his work led to the identification of the non-coding RNA, OLMALINC, as a key player in oligodendrocyte maturation in the human brain. On completion of his PhD he commenced a post-doctoral position at the Amsterdam University Medical Centre under the supervision of Prof Eleonora Aronica. Here, he worked on integrating different levels of transcriptomic data, with a specific focus on regulation of the protein-coding transcriptome by non-coding RNA. This led to the identification of several microRNAs (a class of non-coding RNA) as crucial regulators of important disease related pathways in epilepsy associated diseases.

In his current positions, Dr Mills leads computational biology teams that focus on utilising and integrating multi-omic approaches, including whole genome sequencing, transcriptomics, and DNA-methylation, to elucidate pathogenic mechanisms in complex diseases such amyotrophic lateral sclerosis, Parkinson’s disease and epilepsy. He continues to investigate regulation of the protein-coding transcriptome via non-coding RNA, as well as expanding his research lines to investigate structural variation in the human genome and gene expression changes at the level of a single cell.

Dr Mills has received grants from the Netherlands Parkinson Foundation (Stitching Parkinson’s fonds), the Top Sector for Knowledge and Innovation, and Amsterdam Neuroscience.

Dr. Bradley Smith

Maurice Wohl Clinical Neuroscience Institute, Kings College London, Camberwell, London, UK. “Identifying ALS associated molecular and cellular changes in an Annexin A11 mutant knock-in mouse Model.”

Dr.Smith is a Senior Research Fellow at the Maurice Wohl Clinical Neuroscience Institute in Camberwell, London. He obtained a PhD in 2007 studying the neurogenetics of ALS in the laboratory of Professor Chris Shaw. From 2010 as a Postdoctoral Researcher in Professor Shaw’s lab he led the UK arm of the Familial ALS Exome Sequencing Consortium and identified mutations in TUBA4A and most recently in the calcium and phospholipid binding gene Annexin A11.

Dr Smith identified that one specific N-terminal Annexin A11 mutation, D40G was over-represented in familial cases, had a common founder and formed abundant, ubiquitous Annexin A11–positive protein aggregates in spinal cord motor neurons and hippocampal neuronal axons in post-mortem tissue from a D40G carrier. Since 2015, with Fellowship funding from the Medical Research Foundation (MRF), the Van Geest Foundation and grant funding from the Motor Neurone Disease Association (MNDA), he has been studying Annexin A11 specific disease mechanisms by developing and characterising Zebrafish over-expression and CRISPR-Cas9 models at Kings College. Dr Smith’s lab also continues to conduct novel ALS gene hunting studies in familial and sporadic Caucasian and Middle Eastern ALS populations. At present, Dr Smith is investigating a CRISPR-Cas9 mouse mutant knock-in model of Annexin A11 to assess conserved and translational disease mechanisms gained from Zebrafish studies. Furthermore, he is focussed on vesicle and organelle trafficking mediated by Annexin A11, identifying neuronal specific pathways associated with Annexin A11 and clarifying the role the protein plays at an endogenous level in RNA biology of motor neurons. An aim of this study will be identifying early cellular and molecular specific disease signatures associated with the replicated N-terminal Annexin A11 D40G mutation.