The effect of human gene therapy for RPE65-associated Leber ’s congenital amaurosis on visual function: a systematic review and meta-analysis

This study aims to evaluate the associa...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Review Source Type: research

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If you ever end up in an emergency room, the first thing that happens is a doctor or nurse will check your “critical” vitals: your temperature, blood pressure, respiratory rate, and pulse. If those indicate your life is at risk, your care is prioritized over others who have already been waiting or who have been seen by a doctor but require additional testing (e.g. an x-ray or blood test) or a specialist to review their symptoms. This process, called “triaging,” is the global standard for allocating resources in emergency care. Triaging is a marvel of modern healthcare if it is abundantly clear that ...
Source: TIME: Health - Category: Consumer Health News Authors: Tags: Uncategorized Health Care Rare Disease Source Type: news
(Guangdong-Hongkong-Macau Institute of CNS Regeneration,Jinan University) Huntington's disease (HD) is a rare disease with chorea movement and caused by Huntingtin (Htt) gene mutation and neurodegeneration. A research group led by Dr. Gong Chen has developed a novel gene therapy to regenerate functional new neurons in mouse models of HD. The work has been published in Nature Communications on February 27, 2020.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
Abstract Bradykinin-mediated angioedema is a rare disease, due to vasodilation and increased vascular permeability resulting from bradykinin. This kind of angioedema affects abdominal and/or upper airways. It differs clinically from histamine-mediated angioedema by the absence of urticaria or skin rash. Antihistamines and corticosteroids are not effective. Delayed diagnosis can lead to inadequate and potentially fatal management by asphyxiation. Bradykinin-mediated angioedema results from either overproduction of bradykinin or inhibition of its degradation. Etiology can be hereditary or acquired. Deficiency of C1 ...
Source: Therapie - Category: Psychiatry & Psychology Authors: Tags: Therapie Source Type: research
The National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health (NIH) and Center for Biologics Evaluation and Research (CBER) at the Food and Drug Administration (FDA) are co-hosting a Workshop on Expanding AAV Manufacturing Capacity for Rare Disease Gene Therapies. Current adeno-associated virus (AAV) manufacturing capacity cannot keep pace with the demand for AAV gene therapy clinical trials. The purpose of the meeting is to bring together thought leaders, key stakeholders and innovators to explore obstacles and identify opportunities for expanding the capacity of AAV manufacturing f...
Source: Videocast - All Events - Category: General Medicine Tags: Upcoming Events Source Type: video
The National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health (NIH) and Center for Biologics Evaluation and Research (CBER) at the Food and Drug Administration (FDA) are co-hosting a Workshop on Expanding AAV Manufacturing Capacity for Rare Disease Gene Therapies. Current adeno-associated virus (AAV) manufacturing capacity cannot keep pace with the demand for AAV gene therapy clinical trials. The purpose of the meeting is to bring together thought leaders, key stakeholders and innovators to explore obstacles and identify opportunities for expanding the capacity of AAV manufacturing f...
Source: Videocast - All Events - Category: General Medicine Tags: Upcoming Events Source Type: video
Abstract Drug repurposing has attracted increased attention, especially in the context of drug discovery rates that remain too low despite a recent wave of approvals for biological therapeutics (e.g. gene therapy). These new biological entities-based treatments have high costs that are difficult to justify for small markets that include rare diseases. Drug repurposing, involving the identification of single or combinations of existing drugs based on human genetics data and network biology approaches represents a next-generation approach that has the potential to increase the speed of drug discovery at a lower cost...
Source: Current Opinion in Pharmacology - Category: Drugs & Pharmacology Authors: Tags: Curr Opin Pharmacol Source Type: research
“I drained the last of my cocktail, gazing up at the ceiling. It was one of those moments that curls the hairs on your neck. At once, the grand scale of this labyrinth of cathedrals became clear, the desert wind blowing through the clever hieroglyphics carved into every available surface. I turned my head back down to ground level just in time to see the man draw back his fist in anger, and then.And then.With a piercing shriek, he lunged straight at my jaw –”Do you ever wake from a dream, marvelling at the inventiveness and detail of your subconscious mind? That disorienting moment where you lie blinking ...
Source: EyeForPharma - Category: Pharmaceuticals Authors: Source Type: news
Discussion Gaucher disease (GD) was first described by Philippe Gaucher in 1882. It was the first lysosomal storage disease (LSD) described and is the comparison prototype for many variations and their treatment. There are about 50 LSD and more well-known ones include Fabry, Niemann-Pick and Pompe diseases. LSDs currently have more than 300 different enzymes or membrane proteins affected which cause central nervous system and visceral disease. Overall the frequency of LSDs in aggregate is 1:3000 – 7000 live births. GD has an estimated prevalence of 1:57,000 – 111,000. It is higher within the Ashkenazi Jewish po...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
Kapila Awasthi, Ranjana Arya, Alok Bhattacharya, Sudha BhattacharyaNeurology India 2019 67(5):1213-1219 Inherited neuromuscular diseases are a heterogeneous group of rare diseases for which the low general awareness leads to frequent misdiagnosis. Advances in DNA sequencing technologies are changing this situation, and it is apparent that these diseases are not as rare as previously thought. Knowledge of the pathogenic variants in patients is helping in research efforts to develop new therapies. Here we present a review of current knowledge in GNE myopathy, a rare neuromuscular disorder caused by mutations in the GNE gene...
Source: Neurology India - Category: Neurology Authors: Source Type: research
Gene Therapy, Published online: 13 November 2019; doi:10.1038/s41434-019-0110-7A rare disease patient/caregiver perspective on fair pricing and access to gene-based therapies
Source: Gene Therapy - Category: Genetics & Stem Cells Authors: Source Type: research
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