A genetic disorder is a disease caused in whole or in part by a "variation" (a different form) or "mutation" (alteration) of a gene.
Researchers from Children's Hospital of Philadelphia (CHOP) have discovered that a widely used nutritional supplement may significantly reduce the risk of fatal strokes caused by a rare genetic disorder.
For the first time, scientists have gained a better understanding of the “hidden genetic defects” of the general population in Europe.
Scientists have created a CRISPR-based gene editor named C-to-G Base Editor (CGBE) that can correct mutations responsible for genetic disorders.
Researchers have discovered a promising treatment method for Hutchinson-Gilford progeria syndrome (HGPS)—a debilitating genetic disorder that accounts for rapid and premature aging in children.
Damien D'Amours and his team at the Ottawa Institute of Systems Biology needed three years to discover the molecular defects associated with the LIC Syndrome, a serious genetic disorder that affects young children and result in acute respiratory distress, immune deficiency and abnormal chromosomes.
An international research team has clarified the regulatory mechanism of the ubiquitin-proteasome system (*1) in recognizing and repairing DNA that has been damaged by ultraviolet (UV) light.
Scientists have deigned a new method to inhibit a toxicity observed in the sensory neurons of DRG following gene therapy to treat neurological diseases.
Researchers at the University of Colorado Boulder and the University of Colorado Anschutz Medical Campus have developed a new way to diagnose diseases of the blood like sickle cell disease with sensitivity and precision and in only one minute.
Australian researchers have discovered that removing copper from the blood can destroy some of the deadliest cancers that are resistant to immunotherapy using models of the disease.
Scientists from Stanley Manne Children's Research Institute at Ann & Robert H. Lurie Children's Hospital of Chicago discovered that a set of genes with decreased expression in individuals with Down syndrome may lead to clinical abnormalities in this population, such as poor muscle development and heart valve problems.
Primary cilia are structures that act like antennas for cells to identify signals and occur less in mice affected by Fragile X syndrome since birth.
In a new study from the Wake Forest Institute for Regenerative Medicine (WFIRM) researchers have developed an optimized cellular platform for delivering Factor 8 to better treat patients with hemophilia A.
A research programme pioneering the use of whole genome sequencing in the NHS has diagnosed hundreds of patients and discovered new genetic causes of disease.
Researchers have demonstrated that a dysfunctional placenta can play a formerly unknown role during the earliest phases of development in Cornelia de Lange.
A Turkish family from a village near the Black Sea first caught the attention of medical researchers in the early 1970s.