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Published on August 16, 2022
Researchers at the Broad Institute of MIT and Harvard University have created an online, freely accessible browser called Genebass to help other investigators and clinicians link rare genetic variants with disease phenotypes. The data powering the browser is an analysis of exome data from almost 400,000 individuals participating in the…
Published on July 26, 2022
The results of a research project led by Rady Children’s Institute for Genomic Medicine (RCIGM) show that an automated, virtual disease management system that includes fast whole genome sequencing and analysis could help to manage genetic diseases better. The proposed Genome-to-Treatment (GTRx) system would enable many patients suspected of having…
Published on July 22, 2022
Commercial-stage biopharmaceutical company BridgeBio Pharma and Baylor College of Medicine announced the two will enter an academic collaboration that will seek to translate research findings into new therapies to treat genetic diseases. BridgeBio has adopted a strategy of identifying cutting-edge research in academia and finding way to leverage this information…
Published on June 14, 2022
Already well known for its groundbreaking effort to rapidly diagnose and treat newborn children with rare, often life-threatening diseases, Rady Children’s Institute for Genomic Medicine (RCIGM) announced it has launched a novel program to evaluate the scalability of new diagnostic and precision medicine that screens for approximately 400 genetic diseases…
Published on March 7, 2022
A DNA test that studies suggest can identify over 50 hard-to-diagnose neurological and neuromuscular genetic diseases faster and more accurately than existing methods has been developed by the Garvan Institute of Medical Research in Sydney and international collaborators. The diseases covered by the new test belong to a class of…
Published on February 10, 2022
Researchers at the University of California, San Diego (UCSD), and Seattle biotech Shape Therapeutics have engineered a special guide RNA that is designed to make RNA editing for the treatment of diseases easier. The technology designed in this research makes use of RNA editing enzymes occurring naturally in the body’s…
Published on February 3, 2022
Researchers based at the King Abdullah University of Science & Technology in Saudi Arabia have developed a gene silencing tool that could help develop better therapeutics for genetic diseases. Piwi-interacting RNA (piRNA) is the largest type of small non-coding RNA that is expressed in animal cells and these molecules act…
Published on August 30, 2021
A new compound can remove defective mitochondrial DNA sequences from cells in the lab and could be the answer to better targeting of mitochondrial diseases in the future, according to research from Kyoto University in Japan. Mitochondrial DNA diseases are common neurological conditions caused by mutations in the mitochondrial genome…
Published on July 16, 2021
Rady Children’s Institute for Genomic Medicine announced this week that it will partner with Takeda to develop targeted therapeutics for rare genetic diseases. The San Diego based institute is part of Rady Children’s Hospital-San Diego and is well known for its ground-breaking research on rare genetic diseases. It also provides…
Published on April 22, 2021
An international team of researchers led by Matthew Robinson, Ph.D., assistant professor at the Institute of Science and Technology (IST) Austria has recently developed a new mathematical model that could improve the predictive quality of disease risk derived from large sets of patient genomic data which could help develop personalized…
Published on March 30, 2021
Scientists have discovered a new genetic disease, which causes some children’s brains to develop abnormally, resulting in delayed intellectual development and often early onset cataracts. Affected children also developed microcephaly, small head size relative to age-matched peers. Caused by changes in a gene called coat protein complex 1 (COPB1), the disease which has…
Published on October 1, 2020
VIEW NOW Originally Aired: October 23, 2020Time: 8:00 am PT, 11:00 am ET, 17:00 CET Structural variations result in rare genetic disorders when they disrupt key genes or change their dosage in the genome. Short-read sequencing approaches can detect deletions but are less useful in identifying and localizing insertions in…
Published on August 4, 2020
A computer-based facial analysis tool and 3D image database could help children with genetic conditions to get a quicker and more accurate diagnosis, suggests joint U.S. and Canadian research. Many genetic conditions are rare and an accurate diagnosis can often take years. Despite significant genetic advances over the last 20…
Published on June 5, 2020
A computer-based facial analysis tool and 3D image database could help children with genetic conditions to get a quicker and more accurate diagnosis, shows joint U.S. and Canadian research. Many genetic conditions are rare and an accurate diagnosis can take a long time. Despite significant genetic advances over the last…
Published on May 30, 2019
Researchers at the University of Edinburgh and the European Bioinformatics Institute at the European Molecular Biology Laboratory (EMBL-EBI) have introduced a new diagnostic genome-wide sequence analysis software that significantly improves evaluating genetically heterogeneous clinical presentations. This new tool can identify specific genetic changes in the three billion base pairs of…