Rare diseases - 81 News

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Rare diseases - 81 News

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Rare genetic diseases can sometimes be recognized by the face

Large multicenter study identifies 34 new genetic diseases

23-Jul-2024 - The majority of rare diseases have a genetic cause. The underlying genetic alteration can be found more and more easily, for example by means of exome sequencing (ES), leading to a molecular genetic diagnosis. ES is an examination of all sections of our genetic material (DNA) that code for ...

rare diseases AI software artificial intelligence
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Cellectis enters into strategic collaboration and investment agreement with AstraZeneca

Cellectis to receive up to $245M in cash, with potential for additional milestones, plus tiered royalties

03-Nov-2023 - Cellectis announced it has entered into (i) a Joint Research Collaboration Agreement (the “Collaboration Agreement”, (ii) an investment agreement relating to an initial equity investment of $80M, and (iii) a memorandum of understanding (the “MOU”) relating to an additional equity investment of ...

rare diseases cell therapeutics cell therapies
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Hope for patients with a severe rare disease

By combining the results of multiple molecular analyses, scientists can better diagnose the hereditary disease methylmalonaciduria

30-Jan-2023 - New research offers potential benefits for those affected by the hereditary metabolic disease methylmalonic aciduria. By combining the results of multiple molecular analyses, scientists can better diagnose this rare and severe disease. In the future, an improved understanding of the disease might ...

rare diseases diagnostics hereditary diseases
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Evotec completes acquisition of Central Glass Germany

As Evotec Drug Substance (Germany) GmbH, the acquisition strengthens Evotec's clinical and commercial drug substance manufacturing capacity

04-Nov-2022 - Evotec SE announced that the acquisition of Central Glass Germany GmbH from the Japanese chemical manufacturing company Central Glass Co. Ltd., signed in August 2022, has been completed. As Evotec Drug Substance (Germany) GmbH (“Evotec DS”), the strategic transaction strengthens Evotec’s ...

rare diseases small molecule therapeutics takeovers
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Self-teaching AI uses pathology images to find similar cases, diagnose rare diseases

New model acts as search engine for large databases of pathology images

14-Oct-2022 - Rare diseases are often difficult to diagnose and predicting the best course of treatment can be challenging for clinicians. Investigators from the Mahmood Lab at Brigham and Women’s Hospital, a founding member of the Mass General Brigham healthcare system, have developed a deep learning ...

rare diseases artificial intelligence databases
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Researchers identify key epigenetic markers in vulnerability to developing food addiction

Epigenetic markers affected in the mouse brain were also altered in people’s plasma

10-May-2022 - Ateam of researchers has identified in rodents and humans common epigenetic mechanisms related to food addiction. The article, published inJournal of Clinical Investigation, was led byRafael MaldonadoandElena Martín, from the Neuropharmacology-Neurophar research group at Pompeu Fabra ...

rare diseases addiction biomarkers
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The body as a network

A new VR platform enables the display of huge amounts of data. This can be helpful in the study of rare genetic defects, among other things

27-Apr-2021 - Networks offer a powerful way to visualize and analyze complex systems. However, depending on the size and complexity of the network, many visualizations are limited. Protein interactions in the human body constitute such a complex system that can hardly be visualized. Jörg Menche, Adjunct ...

rare diseases data analysis Datenanalyse
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Intelligence deficit: Conclusion from the mouse to the human being

Researchers create an animal model for studying GPI anchor deficiencies

11-Jan-2021 - Impaired intelligence, movement disorders and developmental delays are typical for a group of rare diseases that belong to GPI anchor deficiencies. Researchers from the University of Bonn and the Max Planck Institute for Molecular Genetics used genetic engineering methods to create a mouse that ...

rare diseases animal models
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New software detects disease-causing gene mutations

Software finds "needle in a haystack" e.g. in the diagnosis of rare diseases

10-Sep-2020 - A serious illness is often the result of a single genetic defect. But given that two healthy people already have around three million differences in their genetic make-up, it is no easy task to pick out the one disease-causing deviation from the many harmless gene variants. Scientists at the ...

rare diseases genetic analysis hereditary diseases
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Comprehensive genetic characterization of primary immunodeficiency

Genetics of primary immunodeficiencies on an unprecedented scale explored

08-May-2020 - So-called primary immunodeficiencies (PID) are a group of rare immune system deficiencies, which are based on a malfunction of the immune system. Among other things, they can lead to recurring and often life-threatening infections in those affected. In addition, patients have an increased risk of ...

rare diseases genome analysis immune deficiencies
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