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Mehta, J.

Publications and source records attributed to Mehta, J..

4 recordsLinked to original sources

Designing AI-programmable therapeutics with the EDEN family of foundation models

The ability to interpret, modify, and design DNA has driven many of the most significant advances in modern medicine, from diagnostics, biologics, and vaccines to cell and gene therapies. However, the inherent complexity of biological systems means that most modern medicines are still engineered using bespoke, labor-intensive processes. To address the need for a generalisable and programmable approach to therapeutic design, we introduce the EDEN (environmentally-derived evolutionary network) family of metagenomic foundation models, including a 28 billion parameter model trained on 9.7 trillion nucleotide tokens from BaseData1. This dataset, at the time of training, contained more than 10 billion novel genes from over 1 million new species, and is intentionally enriched for environmental and host-associated metagenomes, phage sequences, and mobile genetic elements, enabling the model to learn from diverse and novel cross-species evolutionary mechanisms and apply them to key challenges in human health. EDEN achieves state-of-the-art performance across a series of predictive and generative genomic and protein benchmarks. To demonstrate the models broad applicability across biology, we evaluate EDENs capacity for programmable therapeutic design by challenging a single architecture to design biological novelty across three distinct therapeutic modalities, disease areas and biological scales: (i) large gene insertion, (ii) antibiotic peptide design, and (iii) microbiome design. First, we demonstrate AI-programmable Gene Insertion (aiPGI), in which EDEN designs de novo large serine recombinases (LSRs) capable of inserting large pieces of DNA at desired target sites in the human genome when prompted only on 30 nucleotides of DNA sequence from the desired target site. In low-N experimental validation, EDEN generated multiple active recombinases for all tested disease-associated genomic loci (ATM, DMD, F9, FANCC, GALC, IDS, P4HA1, PHEX, RYR2, USH2A) and 4 potential safe harbor sites in the human genome. EDEN achieves an overall functional hit rate of 63.2% across diverse DNA prompts when prompted on only 30bp of DNA from outside the training data. 50% of EDEN-generated LSRs were active in human cells, achieving therapeutically relevant levels of CAR insertion in primary human T cells. We also show that EDEN can generate active bridge recombinases when prompted on the associated guide RNA alone, with sequence identities to training and public data as low as 65%. These results pave the way for a new generation of cell and gene therapies by opening the door to rapid, programmable and site-specific integration of large genetic payloads without double-strand breaks. This offers an alternative to the safety, efficiency and payload limitations inherent in viral or nuclease-based editing at thousands of currently intractable human therapeutic targets. Second, we use the same model to generate a focused low-N library of novel antimicrobial peptides where 97% showed activity, with top candidates achieving single-digit micromolar potency against critical-priority multidrug-resistant pathogens. Third, to demonstrate that EDEN captures inter-genomic features, we design a gigabase-scale microbiome with over 94,000 synthetic metagenomic assemblies, including prophage genomes and correct cross-species metabolic pathway completions. The EDEN-generated synthetic microbiome covers 9,067 species with a biome-specific taxonomic accuracy of 99%. Over 1,500 of the generated species were outside the fine-tuning dataset while retaining the correct microecological properties and biome association, thus significantly expanding genetic and taxonomic diversity. Together, these results establish a new strategic direction for AI-programmable therapeutics, in which a single foundation model architecture designs candidate therapeutics across diverse modalities and disease areas. This suggests that the combination of billions of years of evolutionary data with specific therapeutic records offers a clear, scaling-driven path to making therapeutic design a predictable engineering discipline. O_FIG O_LINKSMALLFIG WIDTH=141 HEIGHT=200 SRC="FIGDIR/small/699009v2_ufig1.gif" ALT="Figure 1"> View larger version (59K): org.highwire.dtl.DTLVardef@68c20borg.highwire.dtl.DTLVardef@19b8e8corg.highwire.dtl.DTLVardef@1ab9362org.highwire.dtl.DTLVardef@1592cb7_HPS_FORMAT_FIGEXP M_FIG C_FIG

genomics↗

The interaction between aging and DNA damage influences the accumulation of APP in Alzheimer's disease

DNA damage is a major driver of the aging process, and the progression of Alzheimers disease (AD) worsens the situation. Neurons of the AD brain show significantly elevated levels of DNA damage compared to controls. AD is also associated with altered processing of the amyloid precursor protein (APP), best known for its A{beta} proteolytic peptide fragment. In the current work we find that these three elements - age, DNA damage, and APP - are associated with each other. We present evidence from the mouse brain supporting the hypothesis that DNA damage drives increased levels of APP. Using the TUNEL reaction to track DNA damage, we show that TUNEL staining increases significantly with age (6 months to 24 months, 8 females and 14 males total in this study), in lockstep with intracellular APP. To separate correlation from causality we analyzed tissue from mice genetically deficient in ATM (ataxia-telangiectasia mutated), a protein kinase that promotes DNA damage repair. Compared to 6-month wild type mice, the increased TUNEL signal in neurons of 6-month Atm-/- animals was equivalent to that seen in 24-month wild type. Significantly, the APP signal in the Atm-/- cells was also increased, and this correlation was found in both neuronal and non-neuronal cells. These results suggest that the loss of genomic integrity associated with aging is a cellular stressor that increases the levels of APP and thus increases vulnerability to the pathogenesis of AD. SIGNIFICANCE STATEMENTOur work links the genetics of Alzheimers disease (dominant disease-causing mutations in the APP gene) with DNA damage and aging - two factors known as risk factors in AD. The evidence suggests that the enhanced DNA damage associated with the normal aging process, increases the levels of APP thus potentially contributing to A{beta} production and plaque formation.

neuroscience↗

DNA damage and senescence in the aging and Alzheimer's disease cortex are not uniformly distributed

Alzheimers disease (AD) is a neurodegenerative illness with a typical age of onset exceeding 65 years of age. The age-dependency of the condition led us to track the appearance of DNA damage in the frontal cortex of individuals who died with a diagnosis of AD. The focus on DNA damage was motivated by evidence that increasing levels of irreparable DNA damage are a major driver of the aging process. The connection between aging and the loss of genomic integrity is compelling because DNA damage has also been identified as a possible cause of cellular senescence. The number of senescent cells has been reported to increase with age, and their senescence-associated secreted products are likely contributing factors to age-related illnesses. We tracked DNA damage with 53BP1 and cellular senescence with p16 immunostaining of human post-mortem brain samples. We found that DNA damage is significantly increased in the BA9 region of the AD cortex when compared to the same region of unaXected controls (UC). In the AD but not UC cases, the density of cells with DNA damage increased with distance from the pia mater up to approximately layer V then decreased in deeper areas. This pattern of DNA damage was overlaid with the pattern of cellular senescence, which also increased with cortical depth. On a cell-by-cell basis, we found that the intensity of the two markers was tightly linked in the AD, but not the UC brain. To test whether DNA damage was a causal factor in the emergence of the senescence program, we used etoposide treatment to damage the DNA of cultured mouse primary neurons. While DNA damage increased after treatment, after 24 hours no change in the expression of senescence-associated markers was observed. Our work suggests that DNA damage and cellular senescence are both increased in the AD brain and increasingly coupled. We propose that in vivo the relationship between the two age-related processes is more complex than previously thought.

neuroscience↗

Electroencephalogram Data Collection for Student Engagement Analysis with Audio-Visual Content

Recognizing and monitoring students attention during learning is crucial to successful knowledge acquisition since it influences cognitive function. As a result, gaining a precise picture of a learners mental state may enable interactive learning systems to alter tutoring content, devise effective help tactics, and improve learning outcomes. In computer-based learning environments, keeping track of students mental states is vital. Investigating the feasibility of utilizing active learning in enhancing student engagement index when exposed to various visual stimuli is the genesis of this work. The research includes collecting EEG data from 20 participants (ten males, ten females) while resting and being subjected to various virtual infotainment/educational content. The EEG data were collected using the Allengers Neuro PLOT, a 40-channel wet electrode system. The work includes raw and pre-processed EEG data under quiescent and audio-visual continuous cues. The recorded data is accommodated by a sophisticated EEG data pre-processing pipeline and will be available to the research community for usage. Specifications Table O_TBL View this table: org.highwire.dtl.DTLVardef@340852org.highwire.dtl.DTLVardef@e5c51org.highwire.dtl.DTLVardef@cefb1borg.highwire.dtl.DTLVardef@c7d208org.highwire.dtl.DTLVardef@ae4824_HPS_FORMAT_FIGEXP M_TBL C_TBL

neuroscience↗