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.
Tag: Genetic Disorders
Genetic tests unexpectedly find genes linked to heart disease — now what?
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.
A Novel Test Could Make Sure Newborns With a Serious Genetic Disease Get Essential Treatment
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 uncover early evidence of brain surgery in Ancient Near East
Archaeologists know that people have practiced cranial trephination, a medical procedure that involves cutting a hole in the skull, for thousands of years.
Protein droplets may cause many types of genetic disease
Most proteins localize to distinct protein-rich droplets in cells, also known as “cellular condensates”.
Radiation damage to paternal DNA is passed on to offspring
Whether radiation exposure of fathers can have consequences on their children is one of the most long-standing questions in radiation biology.
Researchers reveal the role of the CHAMP1 gene in neuronal development
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.
Genetic defect leads to motor disorders in flies
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.
People of East Asian Descent Have More Vessels Reclog After Endovascular Treatment
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.
Common Antiretroviral Drug Improves Cognition in Mouse Model of Down Syndrome
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.
Population Bottlenecks That Reduced Genetic Diversity Were Common Throughout Human History
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.
Height May Be Risk Factor for Multiple Health Conditions
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.
Genetic test can diagnose certain immune system disorders
Primary immunodeficiency disorders (PID) can result in chronic and sometimes life-threatening infections.
National Organization for Rare Disorders Designates The Mount Sinai Hospital as a Center of Excellence
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.
Study reveals possibility that many Japanese have undiagnosed Gitelman Syndrome
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.
Existing Class of Drugs May Improve Neurological Function in Patients with Rare, Aggressive Genetic Disorder
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.
Tiny engineered therapeutic delivery system safely solves genetic problems in mice
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.
New technique allows scientists to measure mitochondrial respiration in frozen tissue
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.
Essential key to hearing sensitivity discovered in inner ear
New research is shedding light on the biological architecture that lets us hear – and on a genetic disorder that causes both deafness and blindness.