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.
Read More
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...
Read More
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...
Read More
Gene-Independent Therapeutic Interventions in Degenerating Photoreceptors
One of the leading causes of blindness in developed nations is neurodegenerative diseases of the...
Read More
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...
Read More
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...
Read More
Newborn screening for cystic fibrosis improves nutritional outcomes
1. In this retrospective study, newborn screening for cystic fibrosis in the United States lead...
Read More
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...
Read More
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...
Read More
Retinal Vasculature Changes an Early Biomarker for Alzheimer’s?
Research has shown that due to similarities between retinal and cerebral vasculature, the retina...
Read More
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...
Read More
Genes Involved in Diabetic Retinopathy Development Identified
Although diabetic retinopathy (DR) is among the retinal vascular diseases that may initially...
Read More
Tardive Dyskinesia is a Clinical Phenotype in Bipolar Disorder (BD)
For a study, the researchers sought to determine the clinical correlates and antipsychotic use...
Read More
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...
Read More
Psychological experiment suggests genetic testing may influence neonatologists’ clinical decision-making
1. A randomized, split-block psychological experiment utilizing clinical vignettes provides...
Read MorePre-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 live birth, in vitro fertilization (IVF) with pre-implantation genetic testing for aneuploidy (PGT-A) did not improve the...
Read MoreIn Vivo CRISPR Treatment for Hereditary Transthyretin Amyloidosis Shows Promise
Gene-editing therapy reduced pathologic transthyretin protein An investigational CRISPR gene-editing therapy reduced pathologic transthyretin (TTR) protein in a small group of patients with hereditary transthyretin amyloidosis...
Read MoreDefects in Autophagy Protein ATG7 Cause Neurologic, Developmental Impairment
Extensive study of five affected families provides some answers and more questions Severe loss or complete absence of ATG7, an enzyme regulated by the ATG7 gene that is critical for autophagy, is characterized by...
Read MoreGene Therapy Effective for Treating Rare Immunodeficiency
Pilot studies report event-free survival following novel gene therapy for ADA-SCID Treatment of young children with adenosine deaminase (ADA) deficiency (ADA-SCID) with an investigational ex vivo lentiviral hematopoietic stem...
Read MorePossible 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 investigational gene therapy for severe sickle cell disease could bring substantial benefits for patients—and potentially even a...
Read More- 1
- 2