Researchers from Karolinska Institutet have analyzed blood and sperm samples from healthy parents to children with genetic syndromes and the results indicate that germline mosaicism is underestimated as a cause to syndromes ...
Feb 17, 2022
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Using a routine blood sample, investigators have developed an extremely sensitive assay to detect and quantify DNA fragments containing rare genetic mutations in a patient's cancer cells. This assay uses "SuperSelective" ...
Feb 11, 2022
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A team of scientists from the University of Granada (UGR) and GENYO (Pfizer-University of Granada-Andalusian Government Centre for Genomics and Oncological Research—led by Pablo Roman-Naranjo and Jose Antonio López-Escámez, ...
Dec 1, 2021
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Genetic testing of the siblings of newborns found to have mutations in any one of 11 genes most commonly associated with childhood-onset cancers could reduce deaths from these rare cancers by about 50%, suggests a study funded ...
Oct 19, 2021
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In children with rhabdomyosarcoma, or RMS, a rare cancer that affects the muscles and other soft tissues, the presence of mutations in several genes, including TP53, MYOD1, and CDKN2A, appear to be associated with a more ...
Jun 24, 2021
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Researchers have identified a new gene that may increase a person's risk of developing ALS (Amyotrophic Lateral Sclerosis), according to a new study published in the June 16, 2021, online issue of Neurology, the medical journal ...
Jun 16, 2021
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A rare mutation that causes Parkinson's disease-like symptoms interrupts the flow of dopamine in the brain, suggests a study in fruit flies published today in eLife.
May 25, 2021
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Apic Bio, a gene therapy company developing treatment options for patients with rare genetic diseases and co-founded by UMass Medical School's Robert H. Brown Jr., DPhil, MD, announced that the FDA has cleared its investigational ...
Apr 22, 2021
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A study of young men with COVID-19 has revealed a genetic variant linked to disease severity.
Mar 23, 2021
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A rare disease first identified in 2020 is much more common than first thought, say researchers at the University of Leeds investigating its origins.
Mar 11, 2021
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