Some rare skin diseases not only reduce the quality of life of patients, but also can be devastating conditions, leading to amputations or death. At the 31st annual congress of the European Society of Gene and Cell Therapy (ESGCT), held last week in Rome, different laboratories showcased their approaches to editing mutations related to this group of diseases.
Variants in several subunits of the Mediator protein complex are responsible for MEDopathies, which present variable clinical manifestations and modes of inheritance. Researchers from Université de Paris Cité have investigated the role of MED16, a subunit of the evolutionary-conserved Mediator complex, in MEDopathies.
By adapting computational methods for dealing with large volumes of data, and slimming down that data, researchers at the Icahn School of Medicine at Mount Sinai have discovered previously unknown genetic associations with 19 rare diseases, and validated three of those associations.
By adapting computational methods for dealing with large volumes of data, and slimming down that data, researchers at the Icahn School of Medicine at Mount Sinai have discovered previously unknown genetic associations with 19 rare diseases, and validated three of those associations.
In a study published in the online edition of Proceedings of the National Academy of Sciences on Jan. 23, 2023, a team of scientists from Frederick National Laboratory for Cancer Research and the University of California, San Francisco (UCSF) described how neurofibromin 1 (NF1) missense mutations act in a dominant negative manner through dimerization with wild-type neurofibromin.
An analysis of more than 1,000 small molecules has identified dozens of compounds that could be effective to treat Marfan syndrome (MFS), an inherited disorder affecting connective tissue, primarily in the heart and blood vessels, the skeleton, and the eyes. In particular, the researchers from Cambridge University found that glycogen synthase kinase-3β (GSK-3β) could be a target to develop new therapies based on its inhibition.
A new epigenetic editing technique has restored the functionality of neurons in Rett syndrome (RTT), a rare neurodevelopmental disease associated with a mutation of the MECP2 gene on the X chromosome. The origin of this disorder is a heterozygous mutation of the MECP2 (methyl CpG-binding protein 2) gene. Homozygosity is lethal and as it is associated with the X chromosome; Rett mostly affects girls, inhibiting the development of their motor skills and communication.
Nacuity Pharmaceuticals Inc. and Arctic Therapeutics LLC have entered into an exclusive licensing agreement and strategic partnership for the development and commercialization of NPI-001 (N-acetylcysteine amide, NACA) in Iceland for the treatment of hereditary cystatin C amyloid angiopathy (HCCAA).
Brightinsight Inc. and UCB SA struck a deal to jointly develop a digital disease management solution for patients with rare diseases. The companies will start with a mobile app for myasthenia gravis (MG) built on Brightinsight’s platform. UCB joins CSL Behring, Novo Nordisk A/S, Sanofi SA and Roche AG in partnering with Brightinsight on digital disease management.
The ultra-rare skin disease X-linked hypohidrotic ectodermal dysplasia (XLHED) can be a heavy burden for children, affecting structures in the skin including sweat glands, respiratory glands, and hair as well as teeth. Though lacking a specific treatment to date, a pivotal clinical trial planned by the Geneva-based nonprofit Esperare Foundation and Pierre Fabre SA could now help bring one about.
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