Treatment of infantile-onset Pompe disease in a rat model with muscle-directed AAV gene therapy.

Objective: Pompe disease (PD) is caused by deficiency of the lysosomal enzyme acid α-glucosidase (GAA), leading to progressive glycogen accumulation and severe myopathy with progressive muscle weakness. In the Infantile-Onset PD (IOPD), death generally occurs <1 year of age. There is no cure for IOPD.

Toric Intraocular Lens versus Peripheral Corneal Relaxing Incisions for Astigmatism between 0.75 and 2.5 Diopters: 5-Years Outcomes.

Purpose: To compare 5-year outcomes of toric intraocular lens (tIOL) or peripheral corneal relaxing incision (PCRI) for correction of keratometric astigmatism (K) between 0.75 and 2.5 diopters (D).

Pathological modeling of glycogen storage disease type III with CRISPR/Cas9 edited human pluripotent stem cells.

Glycogen storage disease type III (GSDIII) is a rare genetic disease caused by mutations in the gene encoding the glycogen debranching enzyme (GDE). The deficiency of this enzyme, involved in cytosolic glycogen degradation, leads to pathological glycogen accumulation in liver, skeletal muscles and heart. Although the disease manifests with hypoglycemia and liver metabolism impairment, the progressive myopathy is the major disease burden in adult GSDIII patients, without any curative treatment currently available.

Illustrated State-of-the-Art Capsules of the ISTH 2022 Congress.

The ISTH London 2022 Congress is the first held (mostly) face-to-face again since the COVID-19 pandemic took the world by surprise in 2020. For 2 years we met virtually, but this year's in-person format will allow the ever-so-important and quintessential creativity and networking to flow again. What a pleasure and joy to be able to see everyone! Importantly, all conference proceedings are also streamed (and available recorded) online for those unable to travel on this occasion.