For the first time in Europe hundreds of rare disease (RD) experts team up to actively share
and jointly analyse existing patient’s data. Solve-RD is a Horizon 2020-supported EU …

Alpha-synuclein (aSyn) is the major protein component of Lewy bodies and Lewy neurites,
the typical pathological hallmarks in Parkinson's disease (PD) and Dementia with Lewy …

Spinocerebellar ataxia type 3 is the most common autosomal dominant inherited ataxia
worldwide, caused by a CAG repeat expansion in the Ataxin-3 gene resulting in a polyglutamine …

MLL rearrangements play a crucial role in leukemogenesis and comprise a poor prognosis.
Therefore, new treatment strategies are urgently needed. We used the CRISPR/Cas9 …

MLL rearranged (MLLr) leukemias are associated with a poor prognosis and a limited response
to conventional therapies. Moreover, chemotherapies result in severe side effects with …

Onset and progression of neurodegenerative disorders, including synucleinopathies such
as Parkinson's disease, have been associated with various environmental factors. A highly …

Accumulation of alpha‐synuclein protein aggregates is the hallmark neuropathologic feature
of synucleinopathies such as Parkinson’s disease. Rare point mutations and multiplications …

Elevated alpha-synuclein (SNCA) gene expression is associated with transcriptional
deregulation and increased risk of Parkinson's disease, which may be partially ameliorated by …

Mixed lineage leukemia (MLL)(KMT2A) rearrangements (KMT2A r) play a crucial role in
leukemogenesis. Dependent on age, major differences exist regarding disease frequency, main …

Dystonia is a neurological movement disorder characterized by sustained or intermittent
involuntary muscle contractions. Loss-of-function mutations in the GNAL gene have been …