The FDA has cleared the most expensive drug yet, Novartis’ gene therapy drug Zolgensma, for introduction to the market. Zolgensma, created to combat spinal muscular atrophy, has been priced at $2.125 million, or $425,000 annually over five years.
Disruptive science can have a significant impact outside of our own domains of research and into our personal lives. Keeping abreast of these developments can help prepare and inspire.
Researchers at the Fred Hutchinson Cancer Research Center have proposed gold nanoparticles as a new way to deliver CRISPR Cas-12a to cells. These nanoparticles can be filled with the necessary CRISPR components to edit genes cleanly, with between 10% and 20% of targeted cells successfully edited during lab studies. No toxic side effects were found from the process.
Researchers from the Australian National University have discovered two rare genetic mutations linked to Lupus, the first time a cause of the disease has been determined. Before this study, it was believed the two mutations, BLK and BANK1, had little role in human autoimmunity and related diseases.
GEDMatch, the DNA database which made news recently for its instrumental role in solving cold criminal cases in the US, has blocked law enforcement from accessing information for the millions of people on its system.
uBiome, a Silicon Valley startup providing tests focussing on the microbiome and its importance to health, is under investigation after an FBI raid on its offices over how it was allegedly billing its customers. The company has received significant criticism recently for handling of the cofounders’ relationship and alleged corner-cutting during its scientific work.
A drug developed in part by Indiana University School of Medicine to alleviate the symptoms of X-linked hypophosphatemia (XLH), a disease which softens bones, has proven significantly more effective than conventional therapies.
In potentially the first large-scale systematic analysis of thousands of cancer gene fusions, UK scientists have announced that one of the fusions could be a novel drug target for a number of cancers. CRISR editing was used to determine the most important gene fusions for cancer cell survival, before anticancer compounds were tested on them to see which might be repurposed to specifically target the fusions.
Cambridge University scientists have created the first living organism with fully synthetic DNA radically altered from its original state. The strain of E coli was given a smaller set of genetic instructions than its counterparts, proving life can continue with such a restricted code.
UK Biobank has released a vast tranche of genetic data to health researchers around the world, offering an unprecedented resource to enhance understanding of human biology and aid in therapeutic discovery. This follows a brief exclusive research period for Regeneron and GSK. Additional tranches of data will be released over the next two years.
Yale University researchers have discovered a potential new biomarker for identifying individuals with increased risk of prostate cancer metastasis. The findings announced that mitochondrial protein syntaphilin is vital in determining the balance between tumour cell proliferation and tumour cell invasion, and is expressed significantly at the invasive tumour edge in prostate cancer.
Gene therapy can make heart cells regenerate after a heart attack, King’s College London researchers have found. The study, published in Nature, stated that a small piece of genetic material called microRNA-199 delivered into a pig’s heart after myocardial infarction resulted in almost total cardiac recovery a month later.
Swiss scientists have found a potential new way to block metastasis, with promising results demonstrated in mice. The researchers have found a “barrier”, built by the Activin B protein and a receptor called ALK7, the combo of which prevents tumours from spreading through the body.
When the MDM2 gene acts with a specific protein found in cancer cells’ mitochondria, it can lead to cancer cell death. The study which discovered this fact, published by Mount Sinai researchers in Molecular Cell journal, could open new treatment opportunities for cancer patients in the future.
The ATDC gene has been identified as necessary for the development of pancreatic cancer. Deleting the gene in pancreatic cells led to “one of the most profound blocks of tumour formation ever observed in a well-known mice model engineered to develop pancreatic ductal adenocarcinoma”.
Two molecules which switch off CRISPR could be used to make gene editing therapies safer in the future. Harvard University’s Amit Choudhary and his colleagues said the molecules could stop CRISPR making unintended changes to DNA, potentially harming the individual.