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
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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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...
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 MoreUse of SNP Chips to Detect Rare Pathogenic Variants
Single gene disorders that are caused by genetic variants are rare, and finding them can lead to a high probability of disease in an individual and their family. This study aims to determine whether the specificity and...
Read MoreMisdirected Mitochondrial DNA May Trigger Inflammation in Sickle Cell Disease
Researchers look to errant cells as possible cause of increased inflammation typical in SCD Mitochondrial DNA may be the culprit behind the increased inflammation typical in individuals with sickle cell disease (SCD),...
Read MoreKids May Not Be ’Hard-Wired’ for Obesity
Study assessed nature and nurture Genetics can’t necessarily be blamed for excess weight in kids, according to a study from Germany, which suggested that genes played a minor role in weight reduction by lifestyle in...
Read MoreBipolar Disorder: New BD Risk Loci Identified in Genome-Wide Association Study
Research illuminates genetic basis for BD in Han Chinese and European patients In a recent genome-wide association study (GWAS), researchers identified several genes and loci that are involved in the heritable risk of bipolar...
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Genetic Variants Linked to Severe Covid-19
Genome-wide association study identifies ABO blood protein The identification of a gene cluster...
Read MoreExome Sequencing Unlocks Molecular Diagnosis for Subset of Stillbirths
Loss-of-function genetic variants key to survival Using exome sequencing in a cohort of 246 stillborn neonates, researchers identified a genetic variant that may be causal in a subset of stillbirths.Senior researchers David B....
Read MoreGivosiran Cuts Porphyria Attacks but Comes At a Price
The RNA interference therapy led to higher frequency of hepatic and renal adverse events Patients with acute intermittent porphyria treated with RNA interference (RNAi) had a significantly lower rate of attacks, and better...
Read MoreFacioscapulohumeral Muscular Dystrophy Phenotypic Variation Identified
Study ’brings FSHD back to the clinic’ Knowing the phenotypic variations in facioscapulohumeral muscular dystrophy (FSHD) can help clinicians better manage the disease and offer more informed genetic counseling,...
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