A Mayo Clinic study published in Journal of Translational Medicine has evaluated the use of genomic testing broadly for rare diseases. With the increased use of genomic testing such as multi-gene panels, exome sequencing ...
Jun 26, 2023
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An innovative gene therapy may help treat a severe and fatal developmental epilepsy syndrome that affects children. Researchers hope that this genetic therapy can also be adapted to other types of genetic epilepsies and think ...
Jun 22, 2023
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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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My name is Antonio and I suffer from spinal muscular atrophy (SMA, for friends). My life expectancy was only a few years when I was born, almost half a century ago. And all because I "got" a rare, neurodegenerative disease, ...
Jun 15, 2023
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Drugs used to treat rare conditions are earning pharmaceutical companies almost as much as those marketed to the general public, according to a researcher at West Virginia University. Sean Tu, a College of Law professor found ...
Jun 12, 2023
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A new family of DNA elements which control the activation of certain genes known to cause a rare disease known as MSL3 syndrome in children has been identified.
Jun 12, 2023
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Xeroderma pigmentosum (XP) is a rare and devastating genetic disorder characterized by an inability to repair skin damage caused by ultraviolet (UV) light. As a result, patients with XP develop skin cancers, usually in childhood. ...
Jun 11, 2023
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Pulmonary hypertension may be postcapillary—a result of an increase in pulmonary venous pressure in left-sided heart diseases—or pre-capillary, caused by pulmonary vascular remodeling or lung diseases, leading to increased ...
Jun 2, 2023
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A new distributional cost-effectiveness analysis of gene therapy versus standard-of-care for sickle cell disease (SCD) found that while gene therapy is cost-ineffective by conventional measures, it can be an equitable therapeutic ...
May 29, 2023
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Robert Weymouth, 58, of Portland, Maine, died this year because of a tick bite.
May 25, 2023
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