Developments and Challenges in Pompe Disease Treatment
Therapies for Pompe disease have had many recent advances, as showcased in a presentation on clinical trials by Professor Antonio Toscano.
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Genetics
A new machine-learning model achieved higher diagnostic accuracy on Mendelian disorders than existing bioinformatic tools
1. AI-MARRVEL (AIM), a new artificial intelligence (AI) system, was trained using samples...
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Protein-truncating variants in apolipoprotein B and PCSK9 genes associated with lower exposure to atherogenic LDL cholesterol and risk of coronary heart disease
1. In this genetic association study, among 209 537 participants, a protein-truncating variant...
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Gene-Independent Therapeutic Interventions in Degenerating Photoreceptors
One of the leading causes of blindness in developed nations is neurodegenerative diseases of the...
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Rare genetic variants may be enriched in patients with high-risk spontaneous coronary artery dissection
1. This prospective case-control study demonstrated that approximately 20% of patients with...
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Children with inborn errors of metabolism have increased risk of long-term mortality
1. Compared to unaffected children, children with inborn errors of metabolism have significantly...
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Newborn screening for cystic fibrosis improves nutritional outcomes
1. In this retrospective study, newborn screening for cystic fibrosis in the United States lead...
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Timing of developmental milestones varies greatly in children with autism
1. Median delays in achieving key developmental milestones varied between 0.7 and 19.7 months for...
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Combined genetic testing of cardiomyopathies and arrhythmias increases diagnostic yield to inform patient management
1. Comprehensive genetic testing for cardiomyopathy and arrhythmia diagnoses improved the ability...
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Retinal Vasculature Changes an Early Biomarker for Alzheimer’s?
Research has shown that due to similarities between retinal and cerebral vasculature, the retina...
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Pyroptosis-Related Genes May Have a Prominent Role in Uterine Cancer
The linguistic origin of pyroptosis is Greek—pyro meaning fire and ptosis meaning falling or...
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Genes Involved in Diabetic Retinopathy Development Identified
Although diabetic retinopathy (DR) is among the retinal vascular diseases that may initially...
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Tardive Dyskinesia is a Clinical Phenotype in Bipolar Disorder (BD)
For a study, the researchers sought to determine the clinical correlates and antipsychotic use...
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Rapid genotyping for variant associated with aminoglycoside-induced ototoxicity is feasible in acute neonatal setting
1. In a prospective implementation trial, more than 400 infants were tested for the MT-RNR1...
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Psychological experiment suggests genetic testing may influence neonatologists’ clinical decision-making
1. A randomized, split-block psychological experiment utilizing clinical vignettes provides...
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Pre-Implantation Genetic Testing Shows No Birth Rate Benefit in IVF
Trial included only women with good prognosis for live birth In women with a good prognosis for a...
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In Vivo CRISPR Treatment for Hereditary Transthyretin Amyloidosis Shows Promise
Gene-editing therapy reduced pathologic transthyretin protein An investigational CRISPR...
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Defects in Autophagy Protein ATG7 Cause Neurologic, Developmental Impairment
Extensive study of five affected families provides some answers and more questions Severe loss or...
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Gene Therapy Effective for Treating Rare Immunodeficiency
Pilot studies report event-free survival following novel gene therapy for ADA-SCID Treatment of...
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Possible Curative Gene Therapy for Sickle Cell Disease —But Costs Millions of Dollars
Providing treatment, no matter the cost, may even out long-standing disparities While an...
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