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Novel newborn screening test for HCU works by measuring homocysteine levels

Scientists have developed a test that could greatly improve quality of life for infants with homocystinuria (HCU)-;a congenital disease that, if not treated early, causes serious complications. Research demonstrating the efficacy of this test was published today in AACC's Clinical Chemistry journal.

16 Mar 2023

Study investigates schizophrenia risk across African ancestry

Researchers have identified two previously unknown genes linked to schizophrenia and newly implicated a third gene as carrying risk for both schizophrenia and autism. Led by the Icahn School of Medicine at Mount Sinai, the multi-center study further demonstrated that the schizophrenia risk conferred by these rare damaging variants is conserved across ethnicities. The study may also point to new therapeutics.

14 Mar 2023

Pathogenic fungus binds to a human protein to escape elimination from lung cells

The pathogenic fungus Aspergillus fumigatus escapes elimination from surface cells of the human lung by binding to a human protein.

9 Mar 2023

ABBA plays inspiration for a new genus of spiders

After an extensive analysis of orb-weaving spiders discovered in Australian zoological collections, Dr Volker Framenau and Dr Pedro Castanheira of Murdoch University in Perth, Australia, developed the new Araneid spider genus.

28 Feb 2023

Voluntary initiatives to promote the replacement of lead in UK game hunting are not very effective

Three years into a five-year pledge to completely phase out lead shot in UK game hunting, a Cambridge study finds that 94% of pheasants on sale for human consumption were killed using lead.

27 Feb 2023

Artificial intelligence creates proteins to hasten chemical reactions

Scientists have for the first time utilized machine learning to design whole new enzymes, which are proteins that quicken chemical reactions. In the realm of protein design, this is a crucial development since new enzymes can find several applications in both industrial manufacture and medicine.

23 Feb 2023

Mount Sinai researchers reveal mechanisms underlying autoimmunity in Down syndrome

Scientists at the Icahn School of Medicine at Mount Sinai in New York have identified which parts of the immune system go awry and contribute to autoimmune diseases in individuals with Down syndrome.

23 Feb 2023

Mount Sinai researchers illuminate the role of DNA methylation in Alzheimer's disease

Mount Sinai researchers have published a study in Alzheimer's & Dementia: The Journal of the Alzheimer's Association that sheds new light on the role of DNA methylation in Alzheimer's disease (AD).

23 Feb 2023

An innovative strategy for on-demand contraception for men

An experimental contraceptive drug developed by Weill Cornell Medicine investigators temporarily stops sperm in their tracks and prevents pregnancies in preclinical models. The study, published in Nature Communications on Feb. 14, demonstrates that an on-demand male contraceptive is possible.

16 Feb 2023

MD Anderson and Replay launch new company pioneering T cell receptor NK cell therapies

The University of Texas MD Anderson Cancer Center and Replay today announced the launch of Syena, a new oncology-focused product company pioneering T cell receptor (TCR) natural killer (NK) cell therapies.

15 Feb 2023

Climate change likely to help mosquitoes reach colder parts of the continent

Based on data that span the past 120 years, scientists at Georgetown University Medical Center have found that the mosquitoes responsible for transmitting malaria in Africa are spreading deeper into southern Africa and to higher elevations than previously recorded. The researchers estimate that Anopheles mosquito populations in sub-Saharan Africa have gained an average of 6.5 meters (21 feet) of elevation per year, and the southern limits of their ranges moved south of the equator by 4.7 kilometers (nearly 3 miles) per year.

15 Feb 2023

Tissue inflammation altered by “natural killer” immune cells

The discovery of a previously unknown role of “natural killer” (NK) immune cells by Melbourne researchers has increased the current understanding of how the immune system is controlled to prevent disease.

13 Feb 2023

Rare disease involving speech and motor coordination difficulties identified

Scientists from the National Institutes of Health recently identified a new neurological condition characterized by issues with motor coordination and speech. Their observations were published in the journal npj Genomic Medicine.

From National Human Genome Research Institute (NHGRI) 13 Feb 2023

Research reveals gene expression changes in two brain regions of individuals with cocaine use disorder

Individuals with cocaine use disorder exhibit gene expression changes in two brain regions: the nucleus accumbens, a region associated with reward, and the caudate nucleus, a region mediating habit formation, according to research conducted at the Icahn School of Medicine at Mount Sinai and published February 10 in Science Advances.

13 Feb 2023