In Brief: For the first time, clinicians successfully treat an unborn child with Pompe disease, a rare autosomal recessive metabolic disorder
an unborn child with Pompe disease, a rare autosomal recessive metabolic disorder.
The disease is caused by deficiency of the lysosomal acid α-glucosidase enzyme, which leads to glycogen aggregates in tissues and is especially damaging to cardiac and skeletal muscle. Although newborn screening allows ERT with recombinant α-glucosidase to start soon after birth, which improves outcomes, in the severe infantile onset form of the disease, the damage begins in utero.
Brasil Últimas Notícias, Brasil Manchetes
Similar News:Você também pode ler notícias semelhantes a esta que coletamos de outras fontes de notícias.
Parkinson’s disease drug hunters think outside the α-synuclein box - Nature BiotechnologyRecent trial failures have called into question the central role of α-synuclein in Parkinson’s disease pathology. Although many continue to target α-synuclein aggregates in the brain, others are paying attention to the endolysosomal pathway, mitochondria and even glucose metabolism.
Consulte Mais informação »
How to grow (almost) anything: a hybrid distance learning model for global laboratory-based synthetic biology education - Nature BiotechnologyA pilot program for synthetic biology education via a scalable distributed network model of distance-based laboratory learning can be accessible globally across disciplines and backgrounds.
Consulte Mais informação »
WSJ News Exclusive | Amgen in Advanced Talks to Buy Horizon TherapeuticsAmgen is in advanced talks to buy drugmaker Horizon Therapeutics, people familiar with the matter say, in a deal likely to be valued at well over $20 billion
Consulte Mais informação »
Antigen-independent activation enhances the efficacy of 4-1BB-costimulated CD22 CAR T cells - Nature MedicineA bedside-to-bench analysis identifies single-chain variable fragment linker length as an important component of chimeric antigen receptor (CAR) structure and suggests that, in contrast to CD28-based CAR T cells, tonic signaling can be beneficial for 4-1BB-based CAR T cell function.
Consulte Mais informação »
Safety and efficacy of avapritinib in advanced systemic mastocytosis: the phase 1 EXPLORER trial - Nature MedicinePresented at ASH21: In the phase 1 EXPLORER trial, avapritinib, a selective KIT inhibitor, was generally well tolerated and elicited durable clinical and molecular responses in patients with advanced systemic mastocytosis MPNsm ASH22
Consulte Mais informação »
Explainer: U.N. nature summit puts industry on alert to disclose moreIndustry executives have joined activists and negotiators from nearly 200 countries at this month's U.N. nature summit in Montreal, where negotiations on a global pact to protect nature could lead to tougher disclosure requirements for businesses.
Consulte Mais informação »