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A better understanding of the innate immune responses by CF airway epithelial cells is needed to identify why viral infections are more severe in CF

A comprehensive in depth gene expression/regulation profile in Mycobacterium tuberculosis-infected macrophages

We hypothesised that the performance of variant prioriisation tools may vary by disease phenotype.

Epigenetically regulated genes have a great theranostic potential, especially in tumors with no apparent driver mutations.

Orm1 is induced in response to hepatic injury and executes liver regeneration by activating cell cycle progression in hepatocytes

CAGE in combination with single-molecule sequencing technology allows mapping of TSSs and genome-wide capture of promoter activities state cell populations.

Infants with KMT2A-rearranged B-cell acute lymphoblastic leukemia (ALL) have a dismal prognosis. Survival outcomes have remained static in recent decades despite treatment intensification and novel therapies are urgently required.

People living with rare diseases (PLWRD) still face huge unmet needs, in part due to the fact that care systems are not sufficiently aligned with their needs and healthcare workforce (HWF) along their care pathways lacks competencies to efficiently tackle rare disease-specific challenges. Level of rare disease knowledge and awareness among the current and future HWF is insufficient.

Computer vision technology is advancing rare disease diagnosis to address unmet needs of the more than 300 million individuals affected globally; one in three rare diseases have a known facial phenotype. 3D face model reconstruction is a key driver of these advances.

In clinical genetics, establishing an accurate nosology requires analysis of variations in both aetiology and the resulting phenotypes. At the phenotypic level, recognising typical facial gestalts has long supported clinical and molecular diagnosis; however, the objective analysis of facial phenotypic variation remains underdeveloped.