Genetic Disorder News and Research

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A genetic disorder is a disease caused in whole or in part by a "variation" (a different form) or "mutation" (alteration) of a gene.

“Hidden genetic defects” can cause a variety of illnesses in children

For the first time, scientists have gained a better understanding of the “hidden genetic defects” of the general population in Europe.

22 Mar 2021

New gene editor could help treat genetic disorders caused by single-nucleotide mutations

Scientists have created a CRISPR-based gene editor named C-to-G Base Editor (CGBE) that can correct mutations responsible for genetic disorders.

15 Mar 2021

Scientists identify new drug target for treating Hutchinson-Gilford progeria syndrome

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.

3 Feb 2021

Scientists discover molecular defects associated with rare genetic disorder 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.

23 Dec 2020

Research clarifies regulatory impacts of ubiquitin-proteasome system on DNA damage repair

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.

9 Dec 2020

New approach can prevent toxicity linked to neurological gene therapy

Scientists have deigned a new method to inhibit a toxicity observed in the sensory neurons of DRG following gene therapy to treat neurological diseases.

12 Nov 2020

New technology rapidly diagnoses sickle cell disease

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.

16 Oct 2020

Removing copper from the blood can destroy some of the deadliest cancers

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.

20 Aug 2020

Genes linked to Down syndrome abnormalities may offer protection against solid tumors

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.

6 Aug 2020