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AI-enhanced precision medicine approach lays groundwork for identification of autism subtype

A novel precision medicine approach enhanced by artificial intelligence (AI) has laid the groundwork for what could be the first biomedical screening and intervention tool for a subtype of autism, reports a new study from Northwestern University, Ben Gurion University, Harvard University and the Massachusetts Institute of Technology.

10 Aug 2020

Large-scale analysis of Alport syndrome reveals the effectiveness of existing treatments

A large-scale analysis of the clinical characteristics of Alport syndrome in Japanese patients has revealed that the effectiveness of existing treatment with ACE inhibitors and/or angiotensin receptor blockers (RAS inhibitors) varies depending on the type of mutation in the syndrome's causal gene (COL4A5).

7 Aug 2020

Unique molecular mechanics can pave way for potential treatments for infections

Unique molecular mechanics allowing parasites to thrive in the guts of one billion people open the door to new treatments that are safe for the host.

6 Aug 2020

Novel short ACE2 isoform may influence SARS-CoV-2 susceptibility

A study led by researchers at the University of Southampton, UK, has identified a novel short isoform of the full-length receptor that severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) uses to gain entry to host cells.

3 Aug 2020

Continuous survival of neurons is intrinsically programmed during development

When our neurons -- the principle cells of the brain -- die, so do we.Most neurons are created during embryonic development and have no "backup" after birth. Researchers have generally believed that their survival is determined nearly extrinsically, or by outside forces, such as the tissues and cells that neurons supply with nerve cells.

25 Jul 2020

Study shows interferons do not induce the expression of SARS-CoV-2 cell entry receptor

In a new bioRxiv study, authors identified a isoform of ACE2 (designated as deltaACE2 or dACE2) receptor, shown to be induced in various human cell types.

23 Jul 2020

Generating genomes and encoding new abilities into artificial DNA

A new study to be presented at the American Association for the Advancement of Science (AAAS) in February 2020 will report on the generation of the world’s first artificially created bacterial genome using a digital design algorithm along with the synthesis of DNA building blocks on a large scale. This genome takes form by chemical rather than template-based synthesis. The research is published in the journal Proceedings of the National Academy of Sciences.

16 Feb 2020

New drug provides hope for patients with Duchenne muscular dystrophy

The results from three clinical trials have shown that a new drug can successfully delay the progression of Duchenne muscular dystrophy.

10 Jul 2019

Creating a better radiation diagnostic test for astronauts

Researchers at the Belgian Nuclear Research Centre are attempting to create a better diagnostic test for radiation exposure after accidental exposures that potentially could save thousands of lives but also astronauts during long term space missions to Mars.

2 May 2019

CircRNAs bind to dsRNA-activated protein kinase which is linked to innate immunity

Covalently closed circular RNAs are produced by precursor mRNA back-splicing the exons of thousands of genes in eukaryotes.

26 Apr 2019

Overlooked part of cell’s internal machinery may hold key to treating acute myeloid leukemia

Many individuals forced to fight an exceptionally aggressive form of the blood cancer acute myeloid leukemia (AML) don't survive more than five years.

22 Apr 2019

Scientists identify two, extremely rare genetic variants linked to Alzheimer disease

Researchers have identified two, extremely rare genetic variants linked to Alzheimer disease (AD) for the first time.

29 Mar 2019

Researchers develop new method to boost efficiency of CRISPR gene editing in DMD

Scientists have developed a method to boost the efficiency of CRISPR gene editing in Duchenne muscular dystrophy (DMD), according to a study that could have implications for optimizing gene therapies for other diseases.

7 Mar 2019

Single CRISPR treatment can safely and stably correct genetic disease

Researchers at Duke University have shown that a single systemic treatment using CRISPR genome editing technology can safely and stably correct a genetic disease -- Duchenne muscular dystrophy (DMD) -- for more than a year in mice, despite observed immune responses and alternative gene editing outcomes.

18 Feb 2019

Active ingredient in eye drops shows promise for treating aggressive blood cancer

An active ingredient in eye drops that were being developed for the treatment of a form of eye disease has shown promise for treating an aggressive form of blood cancer. Scientists at the Wellcome Sanger Institute, University of Cambridge, University of Nottingham and their collaborators have found that this compound, which targets an essential cancer gene, could kill leukemia cells without harming non-leukemic blood cells.

19 Dec 2018

Research may pave way for development of potent weapons against cancer

Despite significant advances in cancer research, the disease continues to exact a devastating toll. Because cancer is a disease of the body's own cells, which mutate and develop under evolutionary pressure, conventional treatments like chemotherapy and radiation often leave behind a residue of resistant cells that go on to expand and wreak havoc.

27 Nov 2018

Deciphera presents Phase 1 clinical results of DCC-2618 in patients with gastrointestinal stromal tumors

Deciphera Pharmaceuticals, Inc., a clinical-stage biopharmaceutical company focused on addressing key mechanisms of tumor drug resistance, announced the presentation today of updated preliminary results from its ongoing Phase 1 clinical study of DCC-2618, the company's broad-spectrum KIT and PDGFRα inhibitor, in patients with gastrointestinal stromal tumors as a proffered paper presentation at the European Society of Medical Oncology 2018 Congress in Munich, Germany.

22 Oct 2018

Researchers uncover molecular underpinnings of liver regeneration

In Greek mythology, Zeus punishes the trickster Prometheus by chaining him to a rock and sending an eagle to eat a portion of his liver every day, in perpetuity. It was the right organ to target - the liver has the ability to regenerate itself, though not overnight nor for eternity.

27 Sep 2018

Research shows enlarged genotype-phenotype correlation for three-base pair deletion in NF1

International collaborative research led by Ludwine Messiaen, Ph.D., shows that while a three-base pair, in-frame deletion called p.Met992del in the NF1 gene has a mild phenotype for people with the genetic disorder neurofibromatosis type 1, or NF1, the mutation does cause complications.

18 Sep 2018

Researchers predict how splicing errors impact disease risk

No one knows how many times in a day, or even an hour, the trillions of cells in our body need to make proteins.

31 Aug 2018