Projects

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Study of SPTAN1 pathomechanisms: the spectrin complex as a central hub in rare neurological and neuromuscular diseases. University of Antwerp

Jonathan Baets
Translational Neurosciences (TNW)
Next Generation Sequencing technologies have accumulated genetic causes for Mendelian diseases, often without full insight into the cellular function of the gene involved. Conversely, patients with rare neurogenetic diseases are often lacking a genetic etiology. SPTAN1 (?-II-spectrin), a major cytoskeletal protein, is exemplary in this with a notably wide phenotypic spectrum but surprisingly little understanding of its molecular and cellular ...

TOWARDS TRIAL READINESS IN HEREDITARY NEUROMUSCULAR DISEASES: Developing accurate, feasible and non-invasive outcome measures. KU Leuven

Kristl Claeys
Laboratory for Muscle Diseases and Neuropathies, Processing Speech and Images (PSI), Laboratory for Cognitive Neurology, Laboratory for Molecular Neurobiomarker Research

Trial readiness in neuromuscular disease is a hot topic. With new genetic therapies emerging for rare muscle diseases - which have been untreatable since their discovery in the past century - now more than ever there is a dire need to be able to conduct clinical trials in an objective and reproducible manner.

In my doctorate I’ll be focusing on automated volumetric analysis of 6 point Dixon MRI images of complete individual muscles, ...

A preclinical study to treat neuromuscular disease caused by mutations in the small heat check protein HSPB8. University of Antwerp

Vincent Timmerman
Peripheral Neuropathies Group
Patients with autosomal dominant distal hereditary motor neuropathy (dHMN) develop progressive motor impairments, weakness and wasting of lower limb muscles. We identified mutations in the small heat shock protein HSPB8 as one of the underlying genetic causes for this disease. More recently, distal myopathy was also found to be associated with mutations in HSPB8. So far, no treatment is available to delay or cure patients with mutations in ...

Clinical and molecular characterization of a novel congenital disease; the role of PREPL in regulated secretion and neuromuscular transmission KU Leuven

John Creemers
Department of Human Genetics

PREPL (PRolyl EndoPeptidase-Like) is deleted in a recessive metabolic disorder characterized by muscle weakness and growth hormone deficiency. Based on the homology with PREP (PRolyl EndoPeptidase) PREPL was predicted to encode an oligopeptidase. Although activity of the catalytic machinery has been demonstrated, no peptide substrates have been identified so far. Recently, we have achieved a breakthrough in determining the physiological ...

Genomics of inherited neuromuscular disorders and beyond: towards the development of novel biomarkers and therapies. University of Antwerp

Peter De Jonghe
Department of Biomedical Sciences - other, Neurogenetics Group
Neuromuscular disorders (NMD) form a large and diverse group of usually genetic diseases affecting spinal cord, peripheral nerve, neuromuscular junction and muscle. Most NMD are 'rare disorders' affecting less than 1 in 2000 individuals but the estimated total of 5000-7000 rare disorders affect 30 million Europeans. Most NMD are chronic, debilitating and often life-threatening resulting in tremendous disease burden for patients and society. The ...

Neuromuscular disorders: from the omics-age towards novel therapies. University of Antwerp

Jonathan Baets
Translational Neurosciences (TNW)
Neuromuscular disorders (NMD) are diverse, usually inheriteddisorders that are chronically debilitating with tremendous societalimpact. We will focus on Hereditary Motor Neuropathies (HMN) andInherited/ Idiopathic Muscle Diseases (IMD). The unmet needs are"missing heritability" and lack of patho-mechanistic understandingand effective therapies. First, we will identify novel genetic causes ofHMN/IMD through advanced genetic studies in large ...

The role of PREPL in regulated secretion and neuromuscular transmission. KU Leuven

John Creemers
Laboratory for Biochemical Neuroendocrinology, Department of Human Genetics
The Hypotonia-Cystinuria syndrome is caused by deletions of the Prolyl Endopeptidase-like (PREPL)</> and SLC3A1</> genes on chromosome 2p21. This recessive metabolic syndrome is characterized by cystinuria, neonatalhypotonia and growth hormone deficiency. Since it is well established that inactivating mutations or deletions in the SLC3A1</> gene cause isolated cystinuria, all other symptoms can be attributed to the deletion ...

Cellular and molecular mechanisms of VEGF at the level of the neuromuscular junction: implications for the treatment of ALS. KU Leuven

Peter Carmeliet
Laboratory of Angiogenesis and Vascular Metabolism (VIB-KU Leuven), Department of Human Genetics
Neurodegenerative disorders (Alzheimer, Parkinson and Amytrophic lateral sclerosis (ALS)) form a group of diseases in which a selected cell population progressively dies, resulting in functional loss. Patients, suffering from any neurodegenerative disorder, have physical, mental and social disabilities and often die at young age since there is no pro-regenerative effective therapy available. Therefore, for all of these disorders, development of ...

3D SUper-Resolution to cryo-Electron MIcroscopy to study nanoscale subcellular dynamics and structure that alter in Neurodegenerative Diseases - 3SURE MIND KU Leuven

Wim Annaert
Laboratory of Membrane Trafficking (VIB-KU Leuven), Research Group Molecular Neurobiology (VIB-KU Leuven), Laboratory of Cellular Transport Systems, Animal Physiology and Neurobiology

The VIB BioImaging Core is expanding its infrastructure to
create a workflow to zoom in on molecular processes that
underlie neurodegenerative diseases. The infrastructure
includes a new super-resolution microscope, which can
visualize processes inside the cell using light microscopy at
a much higher resolution than what is currently available.
The microscope also integrates a laser that can mark areas
in ...