Happy Monday! In this Week in Brief, we’re back with some exciting news from the genomics world and beyond.
Developmental biology has been a hot topic…
A team has shown that thousands of children with severe developmental disorders were supported by the large-scale Deciphering Developmental Disorders (DDD) study. The study highlighted genetic insights and alternative treatments that impacted the management of the children (Genetics in Medicine Open).
Scientists have shown that transposable elements are critical for normal human embryonic cell progression through early development. The study demonstrated that LINE-1 transposable elements prevent the reversion of embryonic cells to earlier developmental states (Developmental Cell).
Skin research has been in the limelight…
Researchers have assembled a single-cell and spatial multi-omics atlas to understand the role of innate immune cells in prenatal skin morphogenesis. Findings were confirmed in a hair-bearing skin organoid model and could be used in regenerative medicine and skin transplants (Nature).
Researchers used deep visual proteomics to map molecular changes and identify drug targets in toxic epidermal necrolysis (TEN), a life-threatening skin condition. The JAK/STAT and interferon signalling pathways were identified as pathogenic drivers, and JAKi therapy was highlighted as a potential curative strategy (Nature).
Cancer has made the news this week…
Scientists have investigated how mutations effect the sensitivity to cancer drugs. This work will identify targets for personalised medicine, provide second-line treatment options for resistant patients and help to develop drugs to avoid resistance developing (Nature Genetics).
Results from the INTERLACE trial have showed that chemoradiotherapy with induction chemotherapy significantly improved survival of patients with locally advanced cervical cancer compared to chemoradiotherapy alone (The Lancet).
The development of a deep learning system with histological slides supported the prediction of overall survival and management in bladder cancer patients (npj Precision Oncology).
What else has been in the news this week?
Concerns have been raised about the exploitation of single-cell databases to reveal the identities and personal health information of donors. Researchers reviewed 3 publicly available single-cell datasets and found that they could use this data to predict the structure of a person’s genome (Cell).
Researchers developed a mitochondrial genome constraint model to remove variation from the human population and identify genetic variants driving phenotype development. They applied this model to the large-scale population database, Genome Aggregation Database, that reports mitochondrial DNA variation across 56,434 participants (Nature).
Whilst FFPE samples are valuable for single-cell omics studies, they are underutilised due to their low RNA quality. snPATHO-seq was introduced as a versatile method to derive high-quality single-nuclei transcriptomic data from FFPE samples (Communications Biology).
Check out last week’s Week in Brief here.
