news, journals and articles from all over the world.
Cedars-Sinai Guerin Children’s has appointed highly respected pediatric physician-scientists Mustafa Khokha, MD, and Saquib Lakhani, MD, to advance knowledge and application of genome sequencing with the goal of improving screening and treatment of genetic disorders and abnormalities.
Symptoms progression of Rett syndrome are different in females than males. A new MIND Institute study shows why it is important to understand these differences to develop better treatments.
A new four-year, $3.26 million grant from the National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health (NIH), establishes the first Undiagnosed Diseases Network (UDN) site in the New York metropolitan area.
Live from the annual conference of the Association for Diagnostics & Laboratory Medicine (ADLM, formerly AACC), experts will discuss how the new FDA rule on laboratory developed tests will hinder patient care. This rule will place these tests under duplicative FDA oversight, even though laboratory developed tests are already regulated by the Centers for Medicare & Medicaid Services. This will force many labs to stop performing these essential tests, which play a critical role in diagnosing rare disorders, such as inherited genetic conditions in newborns.
Researchers at the Icahn School of Medicine at Mount Sinai and others have identified a neurodevelopmental disorder, caused by mutations in a single gene, that affects tens of thousands of people worldwide. The work, published in the May 31 online issue of Nature Medicine [DOI: 10.1038/s41591-024-03085-5], was done in collaboration with colleagues at the University of Bristol, UK; KU Leuven, Belgium; and the NIHR BioResource, currently based at the University of Cambridge, UK. The findings will improve clinical diagnostic services for patients with neurodevelopmental disorders.
Cambridge scientists have created a stem cell-derived model of the human embryo in the lab by reprogramming human stem cells. The breakthrough could help research into genetic disorders and in understanding why and how pregnancies fail.
As health care professionals, researchers and consumers increasingly use genetic testing, they are uncovering incidental genetic abnormalities, or variants, that are associated with cardiovascular diseases.
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.
Archaeologists know that people have practiced cranial trephination, a medical procedure that involves cutting a hole in the skull, for thousands of years.
Most proteins localize to distinct protein-rich droplets in cells, also known as “cellular condensates”.
Whether radiation exposure of fathers can have consequences on their children is one of the most long-standing questions in radiation biology.
Intellectual disability affects roughly 2-3% of the world’s population. Scientists understand the genes related to intellectual disability, but how the mutations of these genes cause this developmental disorder remains largely unknown.
In their study, the research groups looked at a protein called Creld. A study from Bonn had recently been able to demonstrate that Creld plays an important role in the development of the heart in mammals.
Among people who received endovascular therapy to mechanically remove a clot in their large brain artery, those who had a rare genetic variant found primarily in people of East Asian descent (Japanese, Chinese and Korean) were more likely to have the vessel reclog during or shortly after the procedure, according to a small study published today in Stroke: Vascular and Interventional Neurology, an open access journal jointly published by the American Heart Association/American Stroke Association and the Society of Vascular and Interventional Neurology.
Lamivudine, a commonly-used antiretroviral drug for treating HIV, improves cognition in a mouse model of Down syndrome, according to the findings of a joint new study by researchers at the Centre for Genomic Regulation (CRG) and the IrsiCaixa AIDS Research Institute, a centre jointly promoted by the “la Caixa” Foundation and the Department of Health of the Generalitat de Catalunya. The research is published today in the Journal of Cellular and Molecular Medicine.
Human populations have waxed and waned over the millennia, with some cultures exploding and migrating to new areas or new continents, others dropping to such low numbers that their genetic diversity plummeted.
A large genetic study by the U.S. Department of Veteran Affairs’ Million Veteran Program (MVP)) has found that a person’s height may affect their risk for several common health conditions in adulthood.
Primary immunodeficiency disorders (PID) can result in chronic and sometimes life-threatening infections.
The National Organization for Rare Disorders (NORD) has designated the Division of Medical Genetics and Genomics at The Mount Sinai Hospital as a Rare Disease Center of Excellence.
Clinical Fellow KONDO Atsushi and Professor NOZU Kandai et al. of Kobe University’s Graduate School of Medicine have estimated the prevalence of Gitelman syndrome across different ethnicities using a genome database.
New findings show that some patients with a rare and aggressive form of leukodystrophy may benefit from receiving treatment with a class of targeted therapy drugs that could improve their neurological function.
Researchers report in Science Advances that the lipid-based nanoparticles they have engineered, carrying two sets of protein-making instructions, showed in animal studies that they have the potential to function as therapies for two genetic disorders.
UCLA scientists have developed a method for restoring oxygen-consumption activity to previously frozen mitochondria samples. By speeding up research, investigators hope to accelerate the diagnosis of people living with mitochondrial diseases and secondary disorders in which mitochondria play a key role, including diseases related to aging, metabolism and the heart.
New research is shedding light on the biological architecture that lets us hear – and on a genetic disorder that causes both deafness and blindness.
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