Frick Foundation for ALS Research
Frick Foundation for ALS Research
FRICK FOUNDATION FOR ALS RESEARCH
Group 1: Sandra ALMEIDA, Dept. of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA. “Exploring the Therapeutic Benefits of Targeting SUPT4H1 in C90RF72-related ALS/FTD”

almeidaSandra Almeida is an Assistant Professor in the Department of Neurology at the University of Massachusetts Medical School. She received her PhD from the University of Coimbra, Portugal for her work studying the dysregulation of mitochondrial function in cellular and rodent models of neurodegeneration. While a postdoctoral fellow at the Gladstone Institute for Neurological Disease, University of California San Francisco and the University of Massachusetts Medical School, her research focused on reprogramming patient cells into induced pluripotent stem cells (iPSCs). Specifically, she generated multiple iPSC lines from frontotemporal dementia (FTD) and ALS/FTD patients carrying mutations such as progranulin, C9ORF72, TDP-43 and MAPT, as well as the respective heathy controls. She differentiated these iPSC lines into human neurons and using these models her studies have uncovered a number of molecular and cellular defects relevant to the human disease.

Currently, Dr. Almeida is working to further our understanding of the molecular mechanisms of ALS, FTD and related disorders. She uses patient-derived human neurons to understand how ALS/FTD mutations impact cellular physiology and lead to their pathogenic consequences. She is particularly interested in exploring and testing potential therapeutic interventions to halt or slow the progression of these and related diseases.

Dr. Almeida has received awards from the Association for Frontotemporal Degeneration and the Amyotrophic Lateral Sclerosis Association.

Group 2: Edor KABASHI, Institut du Cerveau et de la Moelle (ICM), Hôpital Pitié-Salpêtrière and Inserm, Paris, France and Nicolas CHARLET-BERGUERAND, Dept. Translational Medicine Medicine, Institute of Genetic & Molecular & Cellular Biology, IGBMC, Strasbourg, France. “Exploring the oligogenic properties of C90orf72 and ATXN2 intermediate repeats in ALS models of disease using transgenic models of disease.

kabashiEdor Kabashi completed his Bachelors degree from McGill University and continued his graduate studies at the Montreal Neurological Institute under the supervision of Dr. Heather Durham. Dr. Kabashi obtained his PhD in 2007 by defining the role that the ubiquitin-proteasome pathway play in ALS. During his post-doctoral training at the University of Montreal under the direction of Drs. Guy Rouleau and Pierre Drapeau, as the Tim Noel fellow awarded from the Canadian Institute of Health Research and ALS Canada, Dr. Kabashi was the lead author in the discovery of TDP-43 mutations in ALS, and has published a series of articles in high impact journals. He has been awarded Brain Star Awards from the Canadian Institute of Health Research and recently, the Young Investigator Awards from the European Consortium for the Cure of ALS and the Paulo Gontijo Institute.

Since 2011, Dr. Kabashi is a researcher at the National Institute of Health Research (Inserm) and leads an independent team at the Brain and Spinal Cord Institute (ICM) in Paris, France. His team was awarded the Inserm Avenir and recently obtained the European Research Council Consolidator grant. Dr. Kabashi has developed zebrafish models for the major ALS genes, including C9orf72, TDP-43 and FUS to study common pathogenic mechanisms. Using these vertebrate models of disease, the team aims to identify epistatic interactions and common pathogenic cascades amongst these genetic factors that cause motor neuron degeneration. By developing innovative screening protocols for bioactive compounds, the team hopes to identify novel therapeutic avenues for ALS patients.

Group 3: Nicolas CHARLET-BERGUERAND, Department of Translational Medicine at the Institute of Genetic and Molecular and Cellular Biology (IGBMC, Strasbourg, France).

Charlet-BerguerandNicolas Charlet-Berguerand is researcher in the Department of Translational Medicine at the Institute of Genetic and Molecular and Cellular Biology (IGBMC, Strasbourg, France). He obtained his PhD at the University of Paris VII in 2003, studying the alterations of RNA metabolisms in a genetic disease, Myotonic Dystrophy. In 2007, Dr. Charlet established an independent research team (Inserm Avenir) at IGBMC and obtained a European Research Council Starting grant in 2012. Researches in his group are dedicated to better understand how microsatellite repeat expansion located in the “non”-coding part of the genome (5’UTR, 3’UTR, introns, etc.) can lead to human genetic diseases. His researches are focusing to Myotonic Dystrophy (DM), a neuromuscular inherited disease caused by expanded CTG repeats located in the 3’UTR of the DMPK gene, Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) a neurodegenerative disease due to expanded CGG repeats in the 5’UTR of the FMR1 gene and Amyotrophic Lateral Sclerosis and Frontotemporal Dementia (ALS-FTD) due to GGGGCC expansion in the first intron of the C9ORF72 gene. These expanded repeats are transcribed and pathogenic by diverse mechanisms, such as down-expression of the host gene at the DNA level, sequestration of specific RNA-binding proteins at the RNA level and non-canonical translation into toxic proteins at the protein level. The project supported by the Frick Foundation aims to better understand the synergic toxicity between the decreased expression of C9ORF72 and the intermediate length of polyglutamine into the Ataxin-2 protein in novel ALS animal and cellular models. This is a close collaborative project with the group of Dr. Edor Kabashi (ICM, Paris) with focus on zebrafish (Kabashi’s lab) and mouse models (Charlet’s team).