Type 1 diabetes is caused by insulin deficiency resulting from immune-mediated destruction of pancreatic beta cells. Its cause is multifactorial, with complex genetic factors and a strong influence of certain HLA types that probably indicates T-cell-mediated disease.1 Despite attempts to halt the autoimmune destruction of the pancreatic islet at disease onset with immunotherapeutic approaches, 1 recovery of pancreatic beta-cell function remains a challenge because type 1 diabetes is not reversible, even early in the disease.

Correspondence from The New England Journal of Medicine — STAT1 Gain of Function, Type 1 Diabetes, and Reversal with JAK Inhibition.

Circa 2017 😀

As the most common subtype of Leber congenital amaurosis (LCA), LCA10 is a severe retinal dystrophy caused by mutations in the CEP290 gene. The most frequent mutation found in patients with LCA10 is a deep intronic mutation in CEP290 that generates a cryptic splice donor site. The large size of the CEP290 gene prevents its use in adeno-associated virus (AAV)-mediated gene augmentation therapy. Here, we show that targeted genomic deletion using the clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 system represents a promising therapeutic approach for the treatment of patients with LCA10 bearing the CEP290 splice mutation. We generated a cellular model of LCA10 by introducing the CEP290 splice mutation into 293FT cells and we showed that guide RNA pairs coupled with SpCas9 were highly efficient at removing the intronic splice mutation and restoring the expression of wild-type CEP290. In addition, we demonstrated that a dual AAV system could effectively delete an intronic fragment of the Cep290 gene in the mouse retina. To minimize the immune response to prolonged expression of SpCas9, we developed a self-limiting CRISPR/Cas9 system that minimizes the duration of SpCas9 expression. These results support further studies to determine the therapeutic potential of CRISPR/Cas9-based strategies for the treatment of patients with LCA10.

Keywords: CEP290; CRISPR/Cas9; LCA10.

Copyright © 2017 The American Society of Gene and Cell Therapy. Published by Elsevier Inc. All rights reserved.

University of Notre Dame researchers have discovered another way tumor cells transfer genetic material to other cells in their microenvironment, causing cancer to spread.

In their latest study, published in Cell Reports, Crislyn D’Souza-Schorey, the Morris Pollard Professor in the Department of Biological Sciences, and collaborators discovered that DNA “cargo” is transported in small informational sacs called extracellular microvesicles. Their study is a continuation of work her lab has undertaken to further understand the sharing of information between cells.

“We’ve shown that DNA present in these microvesicles is related to metastasis, so now we have a great platform to assess for genetic aberrations,” said D’Souza-Schorey, who is also affiliated with the Berthiaume Institute for Precision Health, the Boler-Parseghian Center for Rare and Neglected Diseases and the Harper Cancer Research Institute.

Scientists at La Jolla Institute for Immunology (LJI) have found that people with Parkinson’s disease have a clear “genetic signature” of the disease in their memory T cells. The scientists hope that targeting these genes may open the door to new Parkinson’s treatments and diagnostics.

For many decades, evolutionary biologists assumed that the changes in DNA, known as mutations, occur irrespective of any consequences for the organism. A team led by Professor Detlef Weigel, Director at the Max Planck Institute …