... neurological disorder, provides the foundation to decipher the brain region-specific disease mechanism in vitro . Organoid PCH2a Apoptosis Cerebellum Differentiation Rare disease PCH-Familie e.V. Gemeinnützige Hertie-Stiftung http://dx.doi.org/10.13039/501100003493...

... with weaker effects may survive for a long time, thereby enhancing the prevalence of some rare diseases. These are predominantly autosomal recessive diseases but can also be autosomal dominant traits with late-onset or mild phenotypes. Cultural practices, such as endogamy and consanguinity, in these isolated...

... of outcome measures to evaluate future therapeutic interventions. Spermine synthase Spermine Neurological functions Rare disease Pathogenesis Mouse model Richard King Mellon Foundation http://dx.doi.org/10.13039/100000915 AFM-Téléthon http://dx.doi.org/10.13039/100013465...

...Thomas A. Fox; Claire Booth ABSTRACT Effective gene therapy approaches have been developed for many rare diseases, including inborn errors of immunity and metabolism, haemoglobinopathies and inherited blindness. Despite successful pre-clinical and clinical results, these gene therapies...

... this rare disease in the future. Fig. 5. Structural modeling of human DPH1/DPH2 in interaction with DPH3. DPH1 residues H132 C137 and Y152 are placed between the DPH3 Fe and DPH1 FeS. These residues may act as electron transfer stepping stones between Fe in DPH3 and DPH1 as an explanation...

... Europeans ( Fig. 3 ) ( Karczewski et al., 2020 ). Nowadays, new diseases and pathogenic variants are actively discovered worldwide, largely due to improved genetic and diagnostic tools. Detailed documentation of clinical manifestations of rare diseases has facilitated accurate identification...

...’. Disease modelling Muscular dystrophy Neuromuscular disease Rare disease Translational research Maaike van Putten Annemieke Aartsma-Rus James J. Dowling Neuromuscular diseases (NMDs) are a broad and heterogeneous collection of disorders that involve...

... to characterize the disorder and test novel therapeutic strategies. STIM1 Calcium signaling Mouse model Rare disease Store-operated calcium entry Fondazione Telethon 10.13039/501100002426 GGP19110 High concentrations of calcium ions are present in intracellular organelles...

...Julija Hmeljak; Monica J. Justice ABSTRACT Individual rare diseases may affect only a few people, making them difficult to recognize, diagnose or treat by studying humans alone. Instead, model organisms help to validate genetic associations, understand functional pathways and develop therapeutic...

... disease associated with extreme pain after light exposure. Liver dysfunction Mouse model Photosensitivity Protoporphyrin IX (PPIX) Rare disease Splicing defect Erythropoietic protoporphyria (EPP; MIM 177000) is a rare hereditary disorder of heme biosynthesis. Its most frequent cause...