A genome-wide association study (GWAS) from The University of Queensland has linked blood cell traits (BCTs) and neurological and psychiatric disorders (NPDs), providing a tool to improve patient treatments or repurposing different drugs. The researchers also found a cause-effect relationship between Parkinson's and platelet distribution width. In their study, published Jan. 25, 2023, in Cell Genomics, the scientists observed the genetic overlap between common NPDs and 29 BCTs, including functional genes, regulatory elements and new genetic correlations linked to hematological data and for these diseases.
An analysis of more than 1,000 small molecules has identified dozens of compounds that could be effective to treat Marfan syndrome (MFS), an inherited disorder affecting connective tissue, primarily in the heart and blood vessels, the skeleton, and the eyes. In particular, the researchers from Cambridge University found that glycogen synthase kinase-3β (GSK-3β) could be a target to develop new therapies based on its inhibition.
A new epigenetic editing technique has restored the functionality of neurons in Rett syndrome (RTT), a rare neurodevelopmental disease associated with a mutation of the MECP2 gene on the X chromosome. The origin of this disorder is a heterozygous mutation of the MECP2 (methyl CpG-binding protein 2) gene. Homozygosity is lethal and as it is associated with the X chromosome; Rett mostly affects girls, inhibiting the development of their motor skills and communication.
Immunotherapy, a treatment that increases the survival of cancer patients to the point of remission of the disease, can also have the opposite effect. In some patients, immune checkpoint blockade accelerates cancer. Now, researchers at the University of Michigan Medical School have discovered that the answer to this hyperprogressive disease (HPD) lies in the interconnection of the molecular pathways of interferon signaling (IFNγ), fibroblast growth factor 2 (FGF2) and the β-catenin protein.
By combining drug sensitivity with genomic profiling of tumor cells, a study from St. Jude Children's Research Hospital with more than 800 patients has shown a wide diversity in drug sensitivity for pediatric acute lymphoblastic leukemia (ALL) and defined six patterns of response to treatment. “This work provides a framework for ‘functional precision medicine’,” corresponding author Jun Yang, vice chair of the Department of Pharmacy and Pharmaceutical Sciences at St. Jude Children's Research Hospital, told BioWorld.
In animal models, the experimental compound IkT-148009, an inhibitor of Abelson’s tyrosine kinase (c-Abl), prevented the accumulation of the misfolded protein α-synuclein, which is associated with Parkinson’s disease (PD). Treatment with the inhibitor prevented neurodegeneration.
Los Angeles is one of the most diverse cities in the U.S. This diversity is evident at University of California, Los Angeles (UCLA), a university that attracts students (37,000) and workers (22,090) from 118 countries. It is enough to go for a walk on campus or its surroundings to believe that one is at a United Nations convention. Researchers at the UCLA ATLAS Community Health Initiative has been capturing that diversity in a genomic biobank whose data will help to understand, anonymously, the genetic basis of certain diseases. With them, scientists will be able to design the best treatments for these patients.
After comparing the response to the two types of vaccines for the respiratory syncytial virus (RSV) based on its fusion protein (F), prefusion (pre-F) versus postfusion (post-F) vaccines, scientists at the National Institutes of Health (NIH) and Astrazeneca plc have demonstrated that targeting the pre-F protein led to better protection. No more bets on RSV immunization based on the post-F protein of the virus. Laboratories can now bet all on red for the pre-F technology.
A multiomic analysis of the HIV reservoir has characterized the phenotypic and epigenetic heterogenicity of the virus-infected memory CD4+ T-cell population in people living with HIV taking antiretroviral therapy (ART-PLWH). This is the step towards an ex vivo single-cell atlas for these cells, which could help to design new strategies to eliminate the reservoir.
Obesity and chronic inflammation in the liver trigger the most severe form of nonalcoholic fatty liver disease (NAFLD), steatohepatitis. Scientists at the University of Texas (UT) have shown how damaged hepatocytes accumulated in the liver after a vicious cycle of cytokine expression induced shedding of a critical liver receptor.
