Genetic cause of rare childhood immune disorders discovered
Scientists have pinpointed genetic changes that can leave children born with little to no immune defense against infection.
May 24, 2024
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Immune System Diseases: News and Research on Primary Immunodeficiency Diseases
MeSH tree: C20.673.795
Researchers find new genetic cause of severe combined immune deficiency disease
Researchers from Nijmegen and Newcastle have discovered a new genetic mutation leading to severe combined immune deficiency disorder (SCID). It's the first time a mutation in the proteasome, a molecular shredder, has been ...
Mar 19, 2024
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Gene editing offers hope for people with hereditary disorder
A group of patients with a hereditary disorder have had their lives transformed by a single treatment of a breakthrough gene-editing therapy, according to the lead researcher of a trial published in the New England Journal ...
Feb 2, 2024
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Find-and-replace genome editing with CRISPR: A promising therapeutic strategy
Severe combined immunodeficiencies (SCIDs) are a group of debilitating primary immunodeficiency disorders, primarily caused by genetic mutations that disrupt T-cell development. SCID can also affect B-cell and natural killer ...
Oct 27, 2023
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3D genome architecture influences SCID-X1 gene therapy success
Patients with X-linked severe combined immunodeficiency disorder (SCID-X1), sometimes called "bubble boy disease," are born with a defective gene that prevents them from producing immune cells. Gene therapy from St. Jude ...
Oct 6, 2023
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New method used to develop RNA therapy for the treatment of rare diseases
Having a rare genetic disease is actually pretty common. Rare diseases affect approximately 1 in 10 individuals, and more than 30 million people in the U.S. have a rare disease diagnosis. What makes them rare is that these ...
Screening newborns for deadly immune disease SCID saves lives
Introducing widespread screening of newborns for a deadly disease called severe combined immunodeficiency, or SCID, followed by early treatment boosted the five-year survival rate of children with the disorder from 73% before ...
Jun 21, 2023
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Survey of allergists/immunologists reveals management of hereditary angioedema differs by region
Hereditary angioedema (HAE) is a disease that, due to its rare nature, can pose difficulties for both patients and medical professionals. A new survey of allergists/immunologists from the American College of Allergy, Asthma ...
Apr 5, 2023
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CRISPR treatment slows swelling in hereditary angioedema patients
Hereditary angioedema (HAE) is a rare, genetic disorder characterized by severe, recurring, and unpredictable swelling attacks in various organs and tissues of the body, which can be painful, debilitating, and life-threatening. ...
Nov 10, 2022
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'Jumping' genes yield new clues to origins of neurodegenerative disease
Massive, repetitive stretches of DNA in the human genome may harbor hints about the onset of a rare, inherited neurodegenerative disorder called ataxia-telangiectasia as well as other related diseases, a new Yale School of ...
Sep 6, 2022
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