Using a new imaging technique, researchers from the National Eye Institute have determined that retinal lesions from vitelliform macular dystrophy (VMD) vary by gene mutation. Addressing these differences may be key in designing ...
Jul 28, 2022
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The APOE4 gene is the most powerful genetic factor driving a person's risk for developing late-onset Alzheimer's disease.
Jun 1, 2022
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Inhibitors of the protein EZH2 are effective against cancers with SMARCB1 mutations such as rhabdoid tumors in children. However, these drugs are subject to treatment resistance. Scientists at St. Jude Children's Research ...
May 9, 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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Researchers have identified a rare class of genetic differences transmitted from parents without autism to their affected children with autism and determined that they are most prominent in "multiplex" families with more ...
Jul 26, 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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According to some estimates, hundreds of genes may be associated with autism spectrum disorders (ASD), but it has been difficult to determine which mutations are truly involved in the disease and which are incidental. New ...
May 19, 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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Scientists at the National Eye Institute (NEI) have developed a promising gene therapy strategy for a rare disease that causes severe vision loss in childhood. A form of Leber congenital amaurosis, the disease is caused by ...
Jan 28, 2021
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