Geneticists Identify Hundreds of Small Metabolites That Are Potential Disease Indicators

Technology Networks | December 10, 2019

A critical question in medicine asks how individual variation in DNA can predict variation in health and disease. New research from the Clemson Center for Human Genetics identified hundreds of metabolites that might serve as intermediates to translate variation in the genome to variation in complex traits. The findings could one day help doctors better monitor metabolite variation as an indicator of disease. The central dogma of molecular biology spells out how DNA is transcribed into RNA, which is translated into proteins. Many of these proteins function as enzymes that catalyze chemical reactions between small molecules that carry out the programs specified in our DNA, known as metabolites. These metabolites, collectively referred to as the “metabolome,” perform essential functions, from generating or storing energy to serving as building blocks for our cells.

Spotlight

Scientists in Switzerland say they've done just that, in a new study in mice. By taking advantage of the "plasticity," or adaptability, of certain cancer cells during metastasis, the researchers were able to coax breast cancer cells in mice into becoming fat cells.

Spotlight

Scientists in Switzerland say they've done just that, in a new study in mice. By taking advantage of the "plasticity," or adaptability, of certain cancer cells during metastasis, the researchers were able to coax breast cancer cells in mice into becoming fat cells.

Related News

LifeMine Therapeutics and GSK Enter Drug Discovery and Development Alliance

LifeMine | March 28, 2022

LifeMine Therapeutics Inc., a biopharmaceutical company reinventing drug discovery by mining genetically-encoded small molecules (GEMs) from the biosphere, today announced a strategic R&D collaboration with GlaxoSmithKline (GSK). The collaboration will provide GSK with access to LifeMine’s genomically enabled drug discovery platform to identify novel small molecule leads directed to up to three human targets provided by GSK addressing multiple disease areas. Under the terms of the collaboration, LifeMine will receive an upfront payment of $70 million that includes both cash and an equity investment by GSK in LifeMine in its Series C round of financing. In addition, LifeMine is eligible to receive undisclosed discovery, development and commercial milestone payments for each collaboration product. LifeMine will be also eligible to receive royalties on net sales of any drug from the collaboration that is commercialized by GSK. LifeMine and GSK will collaborate closely on the discovery process, with each company leveraging its core capabilities and equally sharing costs to IND filing. GSK will be responsible for all development and commercialization. This is a transformative collaboration for LifeMine, and marks the first such agreement in genomic drug discovery from fungi, nature’s virtuoso medicinal chemists, We are thrilled to partner with GSK to expand the potential of our drug discovery engine while we continue to advance our own lead programs. We look forward to a productive partnership which we are confident will result in novel therapeutic options for patients.” Gregory Verdine, Ph.D., co-founder, chief executive officer and chief scientific officer of LifeMine. LifeMine aims to bring unparalleled speed, predictability and scalability to small-molecule drug discovery, offering the potential to rapidly advance multiple high-impact precision medicines to solve intractable disease challenges, irrespective of therapeutic area. LifeMine’s Avatar-Rx platform seamlessly integrates high-throughput microbiology, data science and machine learning, genome engineering and automation technologies to search the fungal biosphere for novel GEMs having a predetermined target and biological function. Downstream of GEM discovery, LifeMine’s platform further integrates chemoinformatic-assisted drug optimization and state-of-the art chemical synthesis with biotransformation to advance new product candidates into development. GSK’s drug discovery approach focuses on advanced technologies, including human genetics, functional genomics and machine learning to increase our probability of success, This approach leads to genetically validated targets that are twice as likely to succeed as medicines, but due to their novelty often require innovation to unlock their potential. We are looking forward to teaming up with LifeMine to use their cutting-edge platform, so together we can identify what nature might have already created as chemistry starting points to increase our chances of developing transformational new drugs for patients.” John Lepore, SVP, Head of Research, GSK. About LifeMine Therapeutics LifeMine Therapeutics is reinventing drug discovery by mining genetically-encoded small molecules (GEMs) from the biosphere. Through its proprietary, evolutionarily-derived genomic drug discovery platform, LifeMine aims to bring unparalleled speed, predictability and scalability to small molecule drug discovery. LifeMine has discovered, in genomic space, hundreds of potentially high-impact drug candidates relevant to targets across all major disease areas, and has an initial focus on advancing highly impactful precision medicines in oncology and immune modulation. The Company was founded in 2017 by renowned entrepreneur/scientists Gregory Verdine, Ph.D., and Richard Klausner, M.D., and entrepreneur/company-builder WeiQing Zhou. Headquartered in Cambridge, Mass., and with a second site at Gloucester Harbor, Mass., LifeMine has raised more than $295 million from leading life science investors.

Read More

RESEARCH

Quantgene Demonstrates Game-Changing Sequencing Precision in GENES, A Leading Scientific Journal

Quantgene | June 08, 2021

Quantgene, biotechnology, cloud, and AI company located in Santa Monica, CA, and Berlin, Germany, has demonstrated the most exact gene sequencing yet published in the industry, as shown in the February edition of GENES, a major scientific journal in medical genomics. "Precision Genomics is revolutionizing medicine, but it is being hampered by a lack of rapid, accurate, and easily accessible technology," said Jo Bhakdi, CEO of Quantgene. "Today, the protection of human life is dependent on the advancement of precision genomics, and we are excited to open a new chapter in genomic testing and less invasive cancer screening." DEEPGENTM reduced error rates on Illumina NovaSeq platforms hundreds of times by integrating new chemistry with large-scale cloud processing, mathematically enhanced error reduction, and statistically optimized genomic mapping, signaling an innovative approach ahead for cancer testing. Quantgene's latest innovation is a significant step forward in evidence-based healthcare and precision medicine. Quantgene's DEEPGEN technology was thoroughly investigated in its peer-reviewed publication, which included a series of technical validations. According to the publication, the system detects somatic variations in DNA fragments with an accuracy of more than 1 in 1000 fragments, with high repeatability and very low false-positive results. This degree of accuracy has previously only been proven in a peer-reviewed setting for systems that examined a small number of genomic regions. DEEPGEN's technology covers around 70,000 locations and includes a wide range of FDA-approved cancer targets. The results of Quantgene represent a significant advance in the identification of cancer signals in the blood using liquid biopsy and next-generation sequencing technology. Liquid biopsy can be a less invasive and more accurate method of diagnosing different forms of cancer. In oncology, it may also be used to aid physicians in early cancer detection, companion diagnostics, and identifying minimum residual disease. "This is a crucial step forward in precision medicine. Quantgene provides the industry with a more powerful tool to diagnose cancer and other serious diseases earlier than ever before by achieving single-molecule sequencing precision ", said Jo Bhakdi, CEO of Quantgene. About Quantgene Quantgene has emerged as a technical leader in single-molecule precision sequencing over the last six years. To better protect patients from cancer, the company combines deep genomic, cloud, and AI technologies with innovative preventative medicine solutions. Its objective is to increase the healthy human lifespan by ten years within the next ten years.

Read More

MEDICAL

Mission Bio Announced the Launch of First Single-Cell Genomics Solid Tumor Solution on the Tapestri Platform

Mission Bio | March 30, 2022

Mission Bio, Inc., a pioneer in high-throughput single-cell DNA and multi-omics research, announced the commercial availability of the Tapestri Solution for Solid Tumor Research. On the Tapestri Platform, this new end-to-end single-cell DNA sequencing process comprises a nuclei isolation prep technique, pre-designed research panels for breast cancer and glioblastoma multiforme, and an enhanced single-cell copy number variation (CNV) bioinformatic analysis tool. Mission Bio currently covers solid tumors in addition to hematologic malignancies, where Tapestri is widely used to study tumor heterogeneity and gain new insights into the clonal variety and architecture driving disease progression, biomarkers, and therapeutic management. Recent high-profile research studies utilizing custom Tapestri assays for breast cancer, non-small cell lung cancer, colorectal cancer, and melanoma have demonstrated the utility of high-resolution tools for assessing solid tumor heterogeneity and clonal evolution, which contribute to disease onset, progression, and relapse. However, bulk next-generation sequencing technologies cannot offer the cell-by-cell mutational data required to detect disease-causing biological drivers — they are confined to population-level average metrics and lack information on clonal diversity. Tapestri quantifies DNA mutations at the individual cell level in thousands of cells simultaneously, simultaneously detecting SNVs, indels, and CNVs, conclusively identifying variant zygosity and mutational co-occurrence recognizing unusual cell populations. As a result, researchers studying solid tumors may now make use of a comprehensive workflow designed for the Tapestri Platform, which includes the following: Sample preparation assistance with an enhanced nuclei isolation process for both fresh and frozen samples New study panels for breast cancer and glioblastoma were meticulously selected to contain hotspot genes, copy number variants, and chromosomal arm aneuploidies linked with each illness. Additionally, users may create custom panels that target specific human or mouse genome regions. Enhanced capacity for CNV bioinformatics analysis with the development of a new visualization tool (in collaboration with Mission Bio's Field Application Scientist team). This integrated workflow approach has the potential to significantly advance our knowledge of disease progression and enable the development of more specific medicines. The commercial introduction of Mission Bio's Tapestri Solution for Solid Tumor Research demonstrates the company's ongoing commitment to allowing more precise cancer research using single-cell DNA sequencing. In addition, mission Bio has announced the establishment of its first Center of Excellence for solid tumor single-cell DNA profiling at Memorial Sloan Kettering Cancer Center (MSKCC). The impressive results already seen from our early work with solid tumor researchers helped guide the development of these new workflows and underscored our commitment to providing unique and indispensable tools for solid tumor researchers. Just as Tapestri has been an invaluable tool for hematologic malignancy researchers, we're confident that our research panel pair, new prep protocol, and improved bioinformatics analysis capabilities will demonstrate the platform's value in solid tumors." CEO of Mission Bio, Yan Zhang, Ph.D., said.

Read More