Advances in Gaucher Disease: A Model for Rare Lysosomal Disorders

Dear Colleagues,

We are excited to invite you to be part of our new Topic entitled: "Advances in Gaucher Disease: A Model for Rare Lysosomal Disorders". Gaucher disease is truly a remarkable model for rare diseases. It was among the first genetic disorders to demonstrate genotype–phenotype relationships using PCR-based methodology, and the first lysosomal storage disorder (LSD) to benefit from the orphan drug law three decades ago, and to have different therapeutic options. Although rare world-wide (1:50,000–100,000), it has a high prevenance among Ashkenazi Jews, and most of the patients with the so called "adult type" or type 1 live a normal lifespan, thereby allowing long term assessments as well as larger cohorts of patients compared to lethal disorders at a young age. There are also diverse animal models from different mice through drosophila fruit flies to zebra fish and human derived iPSCs, providing endless research opportunities. Gaucher disease was the very first lysosomal storage disease to have a safe and effective intravenous enzyme replacement therapy, to get market approval for oral substrate reduction therapy, and in addition, there are several additional treatment modalities such as pharmacological chaperones different gene therapy approaches. Still, there are many unmet needs and unresolved challenges, including the lack of treatment for the neuronopathic forms, the high cost of therapies leaving many untreated patients in poor countries, and the associations with common diseases such as various malignancies and neurodegenerative disorders, particularly Parkinson’s disease. With regard to the latter, we may be able in the near future to leverage the knowledge from Gaucher disease to the development of innovative therapies for these most common disorders, making the research of Gaucher disease all the more important. We are looking forward to receiving your contributions, and to what we believe might be an excellent up-to-date issue on all aspects of Gaucher disease, from basic science to clinical observations and therapies.

Prof. Dr. Ari Zimran
Prof. Dr. Shoshana Revel-Vilk
Prof. Dr. Edward I. Ginns
Topic Editors