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12.05.2023
THEME: TECHNOLOGY

A Leap Towards Genetic Diversity: The New Human Pangenome

Imagine a world where our understanding of human genetics is no longer based on a single reference genome, but rather on a diverse and inclusive representation of our species. This is what scientists have accomplished with the creation of a new "pangenome" draft, which incorporates the DNA of 47 individuals from every continent except Antarctica and Oceania. This groundbreaking achievement has the potential to revolutionize our ability to diagnose diseases, discover drugs, and understand genetic variants, as it takes into account the genetic diversity between individuals and populations that was previously missed.

The project, funded by the US National Human Genome Research Institute, is still in its draft stage, with researchers aiming to include 350 people by mid-2024. This scientific milestone has been detailed in papers published in Nature and its partner journals, marking a significant step forward in the field of genomics.

The human genome is made up of 3.2 billion base pairs, and the new reference adds an impressive 119 million base pairs to the library. This is a far cry from the first draft of the human genome, which was released in 2001 and only fully completed in 2022. The 47 anonymous individuals included in the pangenome project had previously participated in the 1000 Genomes Project completed in 2015. To ensure a more inclusive representation of human genetic diversity, the team is currently recruiting new individuals to represent Middle Eastern and African ancestry populations not included in the 1000 Genomes Project.

Ethical considerations and "the principle of justice" are key elements of this endeavor, as the Human Pangenome Reference Consortium presents the first draft of the human pangenome reference. This pangenome contains 47 phased, diploid assemblies from genetically diverse individuals, covering over 99% of the expected sequence in each genome and boasting an accuracy of over 99% at structural and base pair levels.

The draft pangenome captures known variants and haplotypes, revealing new alleles at structurally complex loci. In addition to the 119 million base pairs of euchromatic polymorphic sequences, it also includes 1,115 gene duplications relative to the existing reference GRCh38. A significant portion of the additional base pairs, 90 million to be exact, are derived from structural variation.

When the draft pangenome was used to analyze short-read data, it reduced small variant discovery errors by 34% and increased the number of structural variants detected per haplotype by 104% compared to GRCh38-based workflows. This demonstrates the increased accuracy and potential benefits of using the pangenome as a reference. The assemblies are highly contiguous and accurate, with 1,115 protein-coding gene families within the reliable regions of the full set of assemblies experiencing a gain in copy number in at least one genome.

In conclusion, the creation of the new human pangenome marks a significant step towards a more inclusive and accurate understanding of human genetics. By incorporating the DNA of individuals from diverse populations, this pangenome has the potential to revolutionize our ability to diagnose diseases, discover drugs, and understand genetic variants. As the project continues to expand and include even more individuals, we can look forward to a future where our knowledge of human genetics is truly representative of the diverse tapestry of humanity.

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12.05.2023
THEME: TECHNOLOGY

Europe Takes the Lead: Pioneering Rules for Generative AI Systems

Two European Union parliamentary committees have backed the world's first rules for generative AI systems like ChatGPT in Europe, marking a groundbreaking move. The draft AI Act, which governs products and services using AI systems, has been approved by the European Parliament committees on civil liberties and consumer protection. The Act, first proposed in 2021, categorizes AI into four ranks, with riskier applications facing tougher rules that require transparency and accuracy. Policing tools for crime prediction are expected to be banned, while remote facial recognition technology will be prohibited, except for countering specific terrorist threats. ChatGPT and similar generative AI are considered high-risk systems.

The AI Act will be presented to the full parliament next month for adoption. However, it could take years before the new rules become law across the EU's 27-member bloc, given the long bureaucratic process involved. The European AI Strategy aims to make the EU a world-class hub for AI, focusing on excellence and trust. The Commission plans to invest €1 billion per year in AI through Horizon Europe and Digital Europe programs, mobilizing additional investments to reach an annual investment volume of €20 billion over the digital decade. The Recovery and Resilience Facility makes €134 billion available for digital initiatives, and access to high-quality data is deemed essential for building high-performance AI systems.

The EU is also strengthening its strategic partnerships with countries like India and Singapore through the establishment of the Trade and Technology Council (TTC) and other cooperative agreements. The International outreach for the human-centric AI initiative promotes the EU's vision on sustainable and trustworthy AI.

The Coordinated Plan on Artificial Intelligence aims to accelerate investment, act on strategies and programs, and align AI policy to avoid fragmentation in Europe. The European AI Alliance, established in 2018, facilitates open policy dialogue on AI. Language Technologies (Natural Language Processing) make Europe's Digital Decade accessible for everyone, promoting research, job creation, and innovation through better and safer robots while safeguarding ethical aspects of progress.

The proposal for a Regulation of the European Parliament and of the Council laying down harmonized rules on artificial intelligence (Artificial Intelligence Act) was introduced on April 21, 2021. Its objective is to ensure AI systems are safe and respect existing laws on fundamental rights and Union values, ensure legal certainty, enhance governance and effective enforcement, and facilitate the development of a single market for AI applications.

Prohibited AI practices include those that contravene Union values, and restrictions and safeguards will be put in place for remote biometric identification systems for law enforcement purposes. High-risk AI systems will be subject to mandatory requirements for trustworthy AI and conformity assessment procedures, while transparency obligations will be imposed on chatbots and deep fakes.

As the world watches, Europe takes the lead in pioneering rules for generative AI systems. This bold move sets the stage for a future where AI is not only advanced but also safe and respectful of fundamental rights and values.

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10.05.2023
THEME: ENVIRONMENT

Cold-Climate Microbes: A New Hope for Biodegradable Plastic Breakdown

The world produced a staggering 367 megatons of plastic in 2020, making the search for innovative and eco-friendly solutions to tackle plastic waste crucial. A recent study published in Frontiers in Microbiology discovered cold-adapted microbial strains from alpine and Arctic plastisphere environments capable of degrading biodegradable plastics at 15°C. This breakthrough could revolutionize recycling processes, reduce pollution and costs associated with conventional methods, and help preserve polymer quality.

Researchers from the Swiss Federal Institute WSL, led by Dr. Joel Rüthi, isolated 34 microbial strains from Greenland, Svalbard, and Switzerland. While none of the strains could break down conventional polyethylene (PE), 19 strains showed the ability to degrade dispersed polyester-polyurethane (PUR), 12 strains degraded ecovio®, and 5 strains degraded BI-OPL. The most promising strains were Neodevriesia and Lachnellula, which degraded all tested biodegradable plastic materials.

The microbial plastic degradation process was found to be influenced by the composition of the culturing medium, with different strains having different optimal conditions. Current industrial-scale enzymes used for plastic biodegradation work at temperatures above 30°C, making them costly and not carbon-neutral. However, the newly discovered microbes can digest plastic at lower temperatures, around 15°C, likely due to their ability to digest plant polymers.

The next challenge for scientists is to identify and optimize the plastic-degrading enzymes produced by these cold-adapted microbial strains. Researchers have not yet found the best temperature for using these microbes, but they seem to work well between 4°C and 20°C. Future research will focus on optimizing the process and modifying enzymes for protein stability.

In conclusion, the discovery of cold-adapted microbes capable of degrading biodegradable plastics at lower temperatures offers a promising new approach to tackling the global plastic waste problem. These Arctic and alpine strains could potentially reduce pollution and recycling costs while providing a more eco-friendly alternative to conventional recycling methods. As researchers continue to explore and optimize the potential of these microbes, we may be one step closer to a future where plastic waste is more efficiently managed and our environment is better protected.

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