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The repair of damage to genetic material (DNA) in the human body is carried out by highly efficient mechanisms that have not yet been fully researched. A scientific team led by Christian Seiser from MedUni Vienna’s Center for Anatomy and Cell Biology has now discovered a previously unrecognized control point for these processes.

This discovery could lead to a new approach for the development of cancer therapies aimed at inhibiting the repair of damaged cancer cells. The research work was recently published in the journal Nucleic Acids Research.

GSE1-CoREST is the name of the newly discovered complex that contains three enzymes that control DNA repair processes and could form the basis for novel cancer therapeutics. “In research, these proteins are already associated with cancer, but not in the context that we have now found,” emphasizes Seiser, who led the study in close collaboration with researchers from the Max Perutz Labs Vienna.

Interactions between RNA and proteins are the cornerstone of many important biological processes from transcription and translation to gene regulation, yet little is known about the ancient origin of said interactions. We hypothesized that peptide amyloids played a role in the origin of life and that their repetitive structure lends itself to building interfaces with other polymers through avidity. Here, we report that short RNA with a minimum length of three nucleotides binds in a sequence-dependent manner to peptide amyloids. The 3′–5′ linked RNA backbone appears to be well-suited to support these interactions, with the phosphodiester backbone and nucleobases both contributing to the affinity. Sequence-specific RNA–peptide interactions of the kind identified here may provide a path to understanding one of the great mysteries rooted in the origin of life: the origin of the genetic code.

DNA obtained from the bones and teeth of ancient Europeans who lived up to 34,000 years ago is providing insight into the origin of the often-disabling neurological disease multiple sclerosis, finding that genetic variants that now increase its risk once served to protect people from animal-borne diseases.

A previously unidentified genetic mutation in a small protein provides significant protection against Parkinson’s disease and offers a new direction for exploring potential treatments, according to a new USC Leonard Davis School of Gerontology study.

The variant, located in a mitochondrial microprotein dubbed SHLP2, was found to be highly protective against Parkinson’s disease; individuals with this mutation are half as likely to develop the disease as those who do not carry it. The variant form of the protein is relatively rare and is found primarily in people of European descent.

The findings appear in the journal Molecular Psychiatry.

Manolis Kellis, an accomplished Computer Science Professor at MIT and member of the Broad Institute, is a trailblazer in computational biology. Renowned for leading the MIT Computational Biology Group, his impactful research spans disease genetics, epigenomics, and gene circuitry. With numerous cited publications and leadership in transformative genomics projects, Kellis has garnered prestigious accolades, including the PECASE and Sloan Fellowship, shaping the field with his international perspective from Greece and France to the US.

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Continue reading “Curing Disease With Genetics And AI” »

We don’t have a cure for Parkinson’s disease yet, but a recently discovered mutation in mitochondrial DNA that seems to protect the body against the condition could one day point the way to one. Discovered in a small protein called SHLP2, the genetic variant is relatively rare – found in just 1 percent of Europeans. Yet an analysis of the health records of 16,167 people led by researchers from the University of Southern California (USC) suggests…

Ichthyosis refers to a group of skin disorders that lead to dry, itchy skin that appears scaly, rough, and red. Your health care provider may be able to diagnose ichthyosis with a genetic test that detects the mutated gene usually from a blood sample or a swab from the mouth. Find out more:

What is ichthyosis? It is a disorder that causes dry, thickened skin that may look similar to fish scales.

In the largest study of its kind, scientists report how combining health data with whole genome sequence (WGS) data in patients with cancer can help doctors provide more tailored care for their patients.

The research, published in Nature Medicine, shows that linking WGS data to real-world clinical data can identify changes in cancer DNA that may be relevant for an individual patient’s care, for example by helping identify what treatment might work best for them based on their cancer.

The study, led by Genomics England, NHS England, Queen Mary University of London, Guy’s and St Thomas’ NHS Foundation Trust and the University of Westminster, analyzed data covering over 30 types of solid tumors collected from more than 13,000 participants with cancer in the 100,000 Genomes Project. By looking at the genomic data alongside routine clinical data collected from participants over a 5-year period, such as hospital visits and the type of treatment they received, scientists were able to find specific genetic changes in the cancer associated with better or worse survival rates and improved patient outcomes.

Ancient DNA helps explain why northern Europeans have a higher risk of multiple sclerosis than other ancestries: It’s a genetic legacy of horseback-riding cattle herders who swept into the region about 5,000 years ago.

The findings come from a huge project to compare modern DNA with that culled from ancient humans’ teeth and bones — allowing scientists to trace both prehistoric migration and disease-linked genes that tagged along.

When a Bronze Age people called the Yamnaya moved from the steppes of what are now Ukraine and Russia into northwestern Europe, they carried gene variants that today are known to increase people’s risk of multiple sclerosis, researchers reported Wednesday.