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Newly discovered role of AF1q in neuroblastoma
Researchers have identified that AF1q is highly expressed in neuroblastoma, and could be used to destabilise N-Myc.
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Genetic Analysis
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Potential new therapies for primary open-angle glaucoma
Researchers have gained a better understanding of the genes and biological processes that could influence POAG pathogenesis.
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SPOCD1 and C19ORF84: insights into severe male infertility
Researchers have discovered the role of two genes that protect mammalian germ cells, which could influence male fertility.
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Understanding how macrophages direct tissue regeneration
Distinct macrophage signatures that align specifically with regeneration could offer novel therapies to enhance wound healing.
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Advantages of using cfDNA sequencing for early detection of GDM
A deep learning model developed using circulating cell-free DNA outperformed traditional screening methods for gestational diabetes mellitus.
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Targeting GBA gene variants for treating Parkinson’s disease
A new project plans to elucidate the relationship between the glucosylceramidase beta gene and Parkinson’s disease.
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PLK4 inhibition: a new therapeutic for AML
PLK4 inhibition could be a novel therapeutic for an acute myeloid leukaemia subtype carrying the TP53 mutation.
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New algorithm can predict when cancer will resist chemotherapy
The ML algorithm explores how genetic mutations collectively influence a tumour’s reaction to drugs impeding DNA replication.
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Advancing the understanding of rare heart conditions
A potential link between truncating variants and the development of DCM has been found, and a patient-focused registry about PPCM was made.
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Changes in CD4+ T cells associated with autoimmune diseases
Genetic factors that promote disease development accumulated in CD4+ T cells exhibiting specific gene programmes.
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Unexpected patterns in DNA mutations identified
Disruptions in TP53 and RB1 are key influencers that cause changes in the risk of mutations across chromosomes.
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Neurodevelopmental defects seen in mini-brains with ANG mutation
Researchers found that ANG in its mutated form slows stem cell differentiation, resulting in neurodevelopmental defects in adult nerve cells.
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How gene regulatory networks maintain FLT3-ITD mutated AML
Using shRNA screening enabled researchers to investigate the roles of individual specific factors in maintaining the network found in AML.
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Potential target found for CDKL5 deficiency disorder
Using phosphoproteomics, the calcium channel Cav2.3 was found as a target to treat a type of genetic epilepsy, CDKL5 deficiency disorder.
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Investigating the genetic changes of the DDX3X gene
Using saturation genome editing, researchers have created a map of disease-causing mutations for neurodevelopmental disorders and cancer.