The Newborn Genomes Programme: early diagnosis of rare genetic diseases
  • There are estimated to be more than 7000 rare genetic diseases (RGDs), which are defined as affecting less than 1 in 2000 people in Europe, many of which are monogenic. Although rare individually, collectively they affect 1 in 50 individuals. Diagnosis of these diseases is often very difficult and patients can remain undiagnosed or diagnosis can involve years of testing, worry and frustration. In 2013, in the UK, the ‘100 000 Genomes Project1 was launched to determine if whole genome sequencing could be beneficial for the diagnosis of rare diseases. This project1 has had a remarkable impact, resulting in life changing diagnoses and immediate implications for treatment decisions for many patients.
  • Supporting Master’s student in Prof Helen Walden’s laboratory
  • Project aims to determine USP30 structure to inform the design and discovery of novel inhibitors
  • Company Announces Initiation of Second Phase of Expansion Project
  • Spago Nanomedical AB (publ) today announced the publication of data on the composition, stability, and mode of action for its leading candidate drug 177Lu-SN201.
  • Spago Nanomedical AB (publ) today announced the publication of data on the composition, stability, and mode of action for its leading candidate drug 177Lu-SN201. The preclinical results shows that the candidate drug accumulates favorably in tumors, inhibits tumor growth, provides prolonged survival compared to control, and is suitable for systemic treatment of cancer. The paper was published in the scientific journal ACS Omega.
  • Chemically defined, BalanCD HEK293 Viral Feed enhances viral vector production for gene therapy applications and viral vector-based vaccines
  • As the MENA region’s most prominent medical laboratory exhibition and congress, Medlab Middle East plays a crucial role in developing the value of laboratory medicine in reshaping the future of diagnostics by providing a platform for laboratory industry leaders, including manufacturers, dealers and distributors, to share best practice, showcase innovations, collaborate and network.
  • Astrea Bioseparations (“Astrea Bio”), a leading provider of high-quality bioseparation and purification technologies, announced today the acquisition of Delta Precision Ltd. (“Delta Precision”), a premier manufacturer of advanced chromatography columns for the biotechnology and pharmaceutical industries.
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    The Newborn Genomes Programme: early diagnosis of rare genetic diseases

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    There are estimated to be more than 7000 rare genetic diseases (RGDs), which are defined as affecting less than 1 in 2000 people in Europe, many of which are monogenic. Although rare individually, collectively they affect 1 in 50 individuals. Diagnosis of these diseases is often very difficult and patients can remain undiagnosed or diagnosis can involve years of testing, worry and frustration. In 2013, in the UK, the ‘100 000 Genomes Project1 was launched to determine if whole genome sequencing could be beneficial for the diagnosis of rare diseases. This project1 has had a remarkable impact, resulting in life changing diagnoses and immediate implications for treatment decisions for many patients.

     

    Although currently the newborn dried blood spot screening programme in the UK tests for nine rare but serious conditions where early treatment/management can prevent severe disability or death, the team were struck by the number of children in the Project whose conditions had remained undiagnosed and whose lives could have been transformed by early diagnosis, and this resulted in the recommendation that every child admitted to intensive care without a clear cause should have genomic sequencing. Additionally, the group proposed a new study, to sequence the DNA of 100 000 newborns to test for around 200 treatable disorders: The Newborn Genomes Programme, the launch of which was announced by the UK Government in December 2022, to begin in 2023.

     

    The Newborn Genomes Programme: early diagnosis of rare genetic diseases

     

    Currently, as one third of children with a rare disease will die before their fifth birthday, the majority of which can be treated with simple interventions of diet modification or vitamin supplementation, this study will be crucial in providing life-changing treatment at the earliest opportunity.

    1 10,000 Genomes Project Pilot Investigators et al. 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care – Preliminary Report. N Engl J Med 2021;385(20):1868–1880 doi: 10.1056/NEJMoa2035790.

     

     

    Het bericht The Newborn Genomes Programme: early diagnosis of rare genetic diseases verscheen eerst op Clinical Laboratory int..

    https://clinlabint.com/ubiquigent-collaborates-with-university-of-glasgo... panglobal Mon, 23 Jan 2023 12:28:47 +0000 E-News https://clinlabint.com/?p=18594

    Het bericht Ubiquigent collaborates with University of Glasgow on translational structural biology to accelerate drug discovery within the (de)ubiquitylation field verscheen eerst op Clinical Laboratory int..

     

     

     

    Ubiquigent collaborates with University of Glasgow on translational structural biology to accelerate drug discovery within the (de)ubiquitylation field

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    The Newborn Genomes Programme: early diagnosis of rare genetic diseases

     

    Supporting Master’s student in Prof Helen Walden’s laboratory

    • Project aims to determine USP30 structure to inform the design and discovery of novel inhibitors

     

    Ubiquigent Limited (Ubiquigent), a drug discovery and development company harnessing novel deubiquitinase (DUB) modulators as new therapeutics for areas of high unmet medical need, today announced it is supporting a Master’s student at the University of Glasgow (UoG) to undertake a research project on USP30, a DUB implicated in neurodegenerative, renal, and cardiovascular diseases. Overseen by structural biology experts Professor Helen Walden, UoG, and Dr Mehmet Gundogdu, Principal Scientist at Ubiquigent, the project aims to combine biochemistry, in vitro complex protein assembly and protein crystallography to interrogate the mechanism underlying USP30 inhibition by selected proprietary compounds. As well as promoting fundamental research on this strategic enzyme, the project will enable Ubiquigent’s USP30 programme. The studentship is fully funded by Ubiquigent.

    USP30 regulates the clearance of damaged mitochondria in a process called mitophagy. Dysregulation of mitophagy is closely linked to the development of several diseases, with USP30 modulation offering a potential treatment; USP30 inhibition, for example, has been proposed as a therapeutic strategy for Parkinson’s disease (PD). Although numerous USP30-targeting compounds are reported in scientific literature, only one has been approved to enter clinical evaluation so far, and the design and discovery of new compounds is hampered by a lack of a suitable USP30 crystal structure in the public domain. The project aims to overcome this barrier, bringing together the expertise of both groups to deliver a bespoke USP30 structural biology platform to identify novel inhibitors for treatment of a range of diseases including PD.

     

     
     

    The Newborn Genomes Programme: early diagnosis of rare genetic diseases

     

    Professor Helen Walden, Professor of Structural Biology, Head of School (Molecular Biosciences), University of Glasgow, said: “There is huge potential to exploit USP30 as a therapeutic target across many indications, including cardiovascular, renal, and neurodegenerative diseases. My team has worked extensively on resolving the structures of both DUBs and E3 ligases, and I look forward to combining this experience with Ubiquigent’s drug discovery expertise to support the Master’s student and resolve the crystal structure of USP30 for the design of novel therapeutics.”

     

     
     

    The Newborn Genomes Programme: early diagnosis of rare genetic diseases

     

    Dr Mehmet Gundogdu, Principal Scientist, Ubiquigent, commented: “Collaborating with Professor Walden on this project is an exciting opportunity to combine forces in an important therapeutic area. USP30 is a prominent target in the DUB drug discovery space, and this project has great potential to enable the structure-led design and development of novel USP30 modulators.”

     

     
     

    The Newborn Genomes Programme: early diagnosis of rare genetic diseases

     

    Dr Sheelagh Frame, Chief Scientific Officer, Ubiquigent, added: “We are delighted to support the Master’s student, Niyati Gupta Kheskani, in Professor Walden’s laboratory. By determining the structure of USP30 in complex with proprietary inhibitor compounds, our joint objective is to further enable USP30-focused drug discovery and move one step closer to the clinic. This is a great opportunity to support the development of the next generation of scientists, as well as to strengthen our relationship with Professor Walden and her team.”

     

     
     

    To learn more about Ubiquigent’s pipeline of novel DUB-targeting compounds, please visit https://www.ubiquigent.com/pipeline.

     

     

    Het bericht Ubiquigent collaborates with University of Glasgow on translational structural biology to accelerate drug discovery within the (de)ubiquitylation field verscheen eerst op Clinical Laboratory int..

    https://clinlabint.com/beckman-coulter-life-sciences-completes-first-pha... panglobal Mon, 23 Jan 2023 11:42:14 +0000 E-News https://clinlabint.com/?p=18589

    Het bericht Beckman Coulter Life Sciences Completes First Phase of Colorado Research and Development Hub with Grand Opening of $10 Million Loveland Offices verscheen eerst op Clinical Laboratory int..

     

     

     

    Beckman Coulter Life Sciences Completes First Phase of Colorado Research and Development Hub with Grand Opening of $10 Million Loveland Offices

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    Company Announces Initiation of Second Phase of Expansion Project

     

    Beckman Coulter Life Sciences, a global leader in laboratory automation and innovation, further strengthens its commitment to the greater Loveland, Colorado community with the completion of the first phase of its new research and development hub.

    The grand opening of the new $10 million office complex will house its growing workforce in the Axis 25 Development at 4510 Byrd Drive near the Northern Colorado Regional Airport. As part of the expansion, the company also projects the creation of 85 new high-paying Loveland  jobs in the coming years in fields including science research, engineering, and project management. The company currently employs more than 140 full-time associates in Loveland.

     

     
     

    The Newborn Genomes Programme: early diagnosis of rare genetic diseases

     

     
     

    “The relentless pursuit of innovation is what drives our business and our associates each and every day,” said Suzanne Foster, President of Beckman Coulter Life Sciences. “We continue to be impressed by the talent community that exists in greater Loveland, which has fueled our growth in Colorado since we came here in 2018 with nearly three-dozen associates. Our instruments are on the frontlines of major global research facilities, providing them with valuable automation solutions to accelerate answers for that next big breakthrough moment. We’re thrilled to be expanding in Loveland, where our growing team will play a key role in that evolution.”

    The new state-of-the-art complex includes 56,000 square feet of office space featuring collaboration zones, breakout rooms, technology centers, gathering spaces, and a gym for associates.

    The facility also includes a new innovative Customer Engagement Center which allows customers an inside look at the solutions available from Beckman Coulter Life Sciences, along with how they are created and can be tailored to meet individual and specialized laboratory needs.

    The company also formally announces the initiation of its second phase of expansion in Loveland, with a 37,000-square-foot manufacturing operation to be attached to the office site. Ground is set to be broken by the second quarter of 2023, with an anticipated completion date in early 2024.

    “I am excited to congratulate Beckman Coulter Life Sciences on their official opening today in Loveland, creating 85 good-paying jobs in Northern Colorado,” said Colorado Governor Jared Polis. “As Colorado continues to position itself as a leader in advanced industries like bioscience, I am thrilled to see more companies choosing to move and expand in our state.”

     

     
     

    The Newborn Genomes Programme: early diagnosis of rare genetic diseases

     

     
     

    Beckman Coulter Life Sciences is also giving back to the greater Loveland community with a donation to Restoring Colorado’s Forests, which will ensure the planting of 140 trees – one for each current associate – to replace those lost due to the recent devastating wildfires and other environmental damage.

    Beckman Coulter Life Sciences was assisted by CBRE, Etkin Johnson Real Estate Partners, and the Colorado Office of Economic Development and International Trade.

    Job postings will continue to be updated at www.beckman.com/careers.

     

     

    Het bericht Beckman Coulter Life Sciences Completes First Phase of Colorado Research and Development Hub with Grand Opening of $10 Million Loveland Offices verscheen eerst op Clinical Laboratory int..

    https://clinlabint.com/cardinor-enter-into-a-distribution-agreement-with... panglobal Thu, 19 Jan 2023 09:17:08 +0000 E-News https://clinlabint.com/?p=18583

    Het bericht CardiNor enter into a distribution agreement with Demeditec Diagnostics GmbH for the CE marked CardiNor Secretoneurin ELISA test verscheen eerst op Clinical Laboratory int..

     

     

     

    CardiNor enter into a distribution agreement with Demeditec Diagnostics GmbH for the CE marked CardiNor Secretoneurin ELISA test

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    Cardiovascular DX company CardiNor AS today announces that it has signed an exclusive agreement with Demeditec for sales of the CE marked CardiNor Secretoneurin ELISA test in Germany. In addition, the agreement gives Demeditec the right to sell the test, on non-exclusive basis, in 15 countries outside Europe which includes India, South Korea, Mexico and Brazil.

     

    The CardiNor Secretoneurin (SN) is a new biomarker test that could turn into a new gold-standard biomarker to monitor and treat millions of cardiac patients globally. SN has been shown to be a strong risk marker of mortality in several patient groups including ventricular arrhythmia, chronic heart failure and in patients with severe respiratory problems and sepsis. Thus, SN provides valuable prognostic information independent of established cardiovascular biomarkers.

    Dr. Arndt Stüber, General Manager Demeditec, comments:

    “The field of cardiovascular diseases is becoming an important part of our core business and thus CardiNor’s Secretoneurin ELISA test is an excellent addition to our portfolio. We are convinced that our customers in the different territories will be offered an excellent diagnostic tool for research and routine”.

    Dag Christiansen, CEO CardiNor, comments:

    “We are delighted to work with Demeditec Diagnostics, a company with extensive experience in distributing high quality laboratory research and clinical products in Germany and worldwide. Demeditec has a very strong position in the German market and the fact that they have an extensive network of partners in many countries around the world do provide CardiNor with an almost global market presence for our first-generation SN test”.

    More information can be found at: cardinor.com and demeditec.com

     

    For further information, please contact:

    CardiNor AS
    Dag Christiansen, CEO
    Email: dag.chr@cardinor.com
    Phone: +47-92254855

    Demeditec Diagnostics GmbH
    Dr. Arndt Stüber, General Manager
    Email: stueber@demeditec.de
    Phone: +49 (0) 431 71922 60

     

    The Newborn Genomes Programme: early diagnosis of rare genetic diseases

     

     

    Het bericht CardiNor enter into a distribution agreement with Demeditec Diagnostics GmbH for the CE marked CardiNor Secretoneurin ELISA test verscheen eerst op Clinical Laboratory int..

    https://clinlabint.com/spago-nanomedical-publishes-scientific-paper-on-p... panglobal Tue, 17 Jan 2023 10:06:40 +0000 Featured Articles https://clinlabint.com/?p=18574

    Het bericht Spago Nanomedical publishes scientific paper on positive preclinical data with Tumorad® as treatment of solid tumors verscheen eerst op Clinical Laboratory int..

     

     

     

    Spago Nanomedical publishes scientific paper on positive preclinical data with Tumorad® as treatment of solid tumors

    / in Featured Articles

     

    The Newborn Genomes Programme: early diagnosis of rare genetic diseases

     

     
     

    Spago Nanomedical AB (publ) today announced the publication of data on the composition, stability, and mode of action for its leading candidate drug 177Lu-SN201.

     

    The preclinical results shows that the candidate drug accumulates favorably in tumors, inhibits tumor growth, provides prolonged survival compared to control, and is suitable for systemic treatment of cancer. The paper was published in the scientific journal ACS Omega.

    ”The need for more effective methods to treat metastatic and aggressive cancer remains significant. Spago Nanomedical´s candidate drug 177Lu-SN201 belongs to a new generation of targeted radionuclide treatments that provides opportunity for precision treatment of cancer, as monotherapy or in combination with other treatments.

     

    Read more

     

     

     

    Het bericht Spago Nanomedical publishes scientific paper on positive preclinical data with Tumorad® as treatment of solid tumors verscheen eerst op Clinical Laboratory int..

    https://clinlabint.com/spago-nanomedical-publishes-scientific-paper-on-p... panglobal Tue, 17 Jan 2023 09:45:16 +0000 White Papers https://clinlabint.com/?p=18567

    Het bericht Spago Nanomedical publishes scientific paper on positive preclinical data with Tumorad® as treatment of solid tumors verscheen eerst op Clinical Laboratory int..

     

     

     

    Spago Nanomedical publishes scientific paper on positive preclinical data with Tumorad® as treatment of solid tumors

    / in White Papers

     

    The Newborn Genomes Programme: early diagnosis of rare genetic diseases

     

     
     

    Spago Nanomedical AB (publ) today announced the publication of data on the composition, stability, and mode of action for its leading candidate drug 177Lu-SN201. The preclinical results shows that the candidate drug accumulates favorably in tumors, inhibits tumor growth, provides prolonged survival compared to control, and is suitable for systemic treatment of cancer. The paper was published in the scientific journal ACS Omega.

     

    ”The need for more effective methods to treat metastatic and aggressive cancer remains significant. Spago Nanomedical´s candidate drug 177Lu-SN201 belongs to a new generation of targeted radionuclide treatments that provides opportunity for precision treatment of cancer, as monotherapy or in combination with other treatments. The published results provide further support for the start of clinical development in the Tumorad project”, says CEO Mats Hansen.

    The paper, titled “Characterization and Efficacy of a Nanomedical Radiopharmaceutical for Cancer Treatment”, was published in the peer reviewed scientific journal ASC Omega. The results shows that the candidate drug accumulates favorably in tumors and is suitable for systemic treatment of cancer.

    Treatment with 177Lu-SN201 inhibited tumor growth and resulted in 37% longer survival compared to the control group in a preclinical model of colon cancer. The relative accumulation of 177Lu-SN201 in tumor, analyzed by single-photon emission computed tomography (SPECT), was 19.4% of the injected dose per gram tumor tissue. This is somewhat higher than has been previously reported for the Novartis drug Lutathera, a radionuclide therapy approved by the EMA and the FDA for treatment of patients with neuroendocrine tumors.

    Previous preclinical results from regulatory studies shows good safety of the nanoparticle SN201 in doses that widely exceeds the anticipated clinical dose. In summary, results indicate that 177Lu-SN201 is a promising new radionuclide therapy for physiological targeting and tumor selective treatment of cancer with potential use in several different tumor types. Preparations for clinical trials proceeds according to plan and the aim is to initiate a phase 1/2a trial in cancer patients within shortly.

    The paper is available for downloading through the following link:

     

     

     
     

    For further information, please contact Mats Hansen, CEO Spago Nanomedical AB, +46 46 811 88, mats.hansen@spagonanomedical.se

     

     
     

    Spago Nanomedical AB is a Swedish nanomedicines company in clinical development phase. The company´s development projects are based on a platform of polymeric materials with unique properties for more precise diagnosis and treatment of life-threatening and debilitating diseases. Spago Nanomedical´s share is listed on Nasdaq First North Growth Market (ticker: SPAGO). For further information, see www.spagonanomedical.se.

    FNCA Sweden AB is the Certified Adviser of the company.

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    Spago Nanomedical publishes scientific paper on positive preclinical data with Tumorad® as treatment of solid tumors

     

     

     

    Het bericht Spago Nanomedical publishes scientific paper on positive preclinical data with Tumorad® as treatment of solid tumors verscheen eerst op Clinical Laboratory int..

    https://clinlabint.com/fujifilm-irvine-scientific-launches-hek293-feed-s... panglobal Fri, 13 Jan 2023 09:25:02 +0000 E-News https://clinlabint.com/?p=18560

    Het bericht FUJIFILM Irvine Scientific Launches HEK293 Feed, Specifically Designed for Viral Vector Production verscheen eerst op Clinical Laboratory int..

     

     

     

    FUJIFILM Irvine Scientific Launches HEK293 Feed, Specifically Designed for Viral Vector Production

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    Chemically defined, BalanCD HEK293 Viral Feed enhances viral vector production for gene therapy applications and viral vector-based vaccines

     

    FUJIFILM Irvine Scientific, Inc., a world leader in the development and manufacture of serum-free and chemically defined cell culture media for bioproduction and cell therapy manufacturing, today announced the launch of its BalanCD HEK293 Viral Feed. The chemically defined, nutrient-based HEK293-specific feed medium is designed to boost adeno-associated viral vector (AAV) production for gene therapy applications and viral vector-based vaccines.

     

    The Newborn Genomes Programme: early diagnosis of rare genetic diseases

     

    Numerous gene therapies have received FDA approval and as more viral vector-based vaccines and gene therapies move into commercialization, the demand for large-scale, efficient viral vector manufacturing is increasing. For manufacturers, it is imperative to boost viral vector production to meet supply demands for vaccine and gene therapy manufacture. BalanCD HEK293 Viral Feed is optimized to deliver high titers and improve viral packaging efficiency by up to 67% compared to basal control without viral-specific feed for increased production efficiency. It is chemically defined and formulated to deliver consistent performance while increasing viral vector production in HEK293 cells grown in suspension and at scale.

    Viral vector manufacturing must evolve rapidly to support increased numbers of gene therapies and viral vector-based vaccines being developed and commercialized. We developed BalanCD HEK293 Viral Feed specifically to increase yields and help manufacturers maximize production, and lower cost of goods related to viral vector-based drug programs.” said Erik Vaessen, chief business officer, FUJIFILM Irvine Scientific.

    BalanCD HEK293 Viral Feed is GMP manufactured using raw materials sourced using a strict raw material and supply chain program to ensure continuity of supply and lot-to-lot reliability for HEK293-specific applications. It is available in a 500 mL liquid format (catalog) and made-to-order powder format (or other configuration), and may be used with a wide range of basal growth media.

    For more information on the portfolio of BalanCD HEK293 media and supplements visit https://www.irvinesci.com.

     

     

    Het bericht FUJIFILM Irvine Scientific Launches HEK293 Feed, Specifically Designed for Viral Vector Production verscheen eerst op Clinical Laboratory int..

    https://clinlabint.com/about-medlab-middle-east/?utm_source=rss&utm_medi... panglobal Tue, 10 Jan 2023 14:50:49 +0000 Events https://clinlabint.com/?p=18550

    Het bericht About Medlab Middle East verscheen eerst op Clinical Laboratory int..

     

     

     

    About Medlab Middle East

    / in Events

     

    As the MENA region’s most prominent medical laboratory exhibition and congress, Medlab Middle East plays a crucial role in developing the value of laboratory medicine in reshaping the future of diagnostics by providing a platform for laboratory industry leaders, including manufacturers, dealers and distributors, to share best practice, showcase innovations, collaborate and network.

     

    Medlab Middle East stems from 15 years of growth alongside the MENA region’s largest healthcare event, Arab Health. Now in its 22nd year, this annual medical laboratory meeting brings together exhibitors and attendees from over 180 countries.

    Medlab Middle East will take place from 6 – 9 February 2023 at the Dubai World Trade Centre, Dubai, UAE. A digital event will occur from 16 January – 9 March 2023.

    Website:           medlabme.com

    Facebook:        facebook.com/medlabseries

    Twitter:             @MedlabSeries #myMedlab

    Instagram:        @medlab.series

    LinkedIn:          Medlab Middle East

     

     

    Het bericht About Medlab Middle East verscheen eerst op Clinical Laboratory int..

    https://clinlabint.com/astrea-bioseparations-acquires-delta-precision-lt... panglobal Tue, 10 Jan 2023 12:05:20 +0000 E-News https://clinlabint.com/?p=18544

    Het bericht Astrea Bioseparations acquires Delta Precision Ltd, a leading manufacturer of chromatography columns for biomanufacturing verscheen eerst op Clinical Laboratory int..

     

     

     

    Astrea Bioseparations acquires Delta Precision Ltd, a leading manufacturer of chromatography columns for biomanufacturing

    / in E-News

     

    The Newborn Genomes Programme: early diagnosis of rare genetic diseases

     

    Astrea Bioseparations (“Astrea Bio”), a leading provider of high-quality bioseparation and purification technologies, announced today the acquisition of Delta Precision Ltd. (“Delta Precision”), a premier manufacturer of advanced chromatography columns for the biotechnology and pharmaceutical industries.

     

    This strategic acquisition, which follows a long-standing relationship of almost a decade, will allow Astrea Bio to expand its product offering to include a full range of high-performance chromatography columns for biomanufacturing, complementing and strengthening the company’s existing portfolio of bioprocessing resins, reusable columns, and prepacked single-use columns. Delta Precision’s products are widely recognized for their quality, ease of use, and durability, and are used in a variety of applications, including protein purification, vaccine production, and drug development.

    We are delighted to welcome the Delta team into the fold. The acquisition of Delta is another step forward in Astrea Bio’s rapid expansion to support the biopharmaceutical manufacturing field,” said Terry Pizzie, CEO of Astrea Bio.This is a highly strategic move for us, allowing us to offer a full range of industry-leading purification and separation tools.

     

    The Newborn Genomes Programme: early diagnosis of rare genetic diseases

     

    Geoff Parnell, Co-founder and Managing Director at Delta Precision, remarked,We look forward to joining the Astrea Bio family, further cementing the long-standing relationship between the two companies. We are confident that our expertise in column manufacturing will complement and accelerate the Astrea Bio business and customer reach.”

    This acquisition marks a significant milestone for Astrea Bioseparations and will allow the company to further accelerate new product development and rapidly bring new advances in purification and separation technology to market.

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