New tool for rapidly analyzing CRISPR edits reveals frequent production of unintended edits

(Burness) Amidst rising hopes for using CRISPR gene editing tools to repair deadly mutations linked to conditions like cystic fibrosis and sickle cell disease, a new study in the Nature journal Communications Biology describes a new innovation that could accelerate this work by rapidly revealing unintended and potentially harmful changes introduced by a gene editing process.
Source: EurekAlert! - Biology - Category: Biology Source Type: news

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CONCLUSIONS: While Niprisan® appeared to be safe and effective in reducing severe painful crises over a six-month follow-up period, further trials are required to assess its role in managing people with SCD and the results of its multicentre trials are awaited. Currently, no conclusions can be made regarding the efficacy of Ciklavit® and the powdered root extract of Pfaffia paniculata in managing SCD. Based on the published results for Niprisan® and in view of the limitations in data collection and analysis of the three trials, phytomedicines may have a potential beneficial effect in reducing painful crises in ...
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
Abstract Newborn screening (NBS) identifies infants at risk for congenital disorders for which early intervention has been shown to improve outcomes (1). State public health programs are encouraged to screen for disorders on the national Recommended Uniform Screening Panel (RUSP), which increased from 29 disorders in 2005 to 35 in 2018.* The RUSP includes hearing loss (HL) and critical congenital heart defects, which can be detected through point-of-care screening, and 33 disorders detected through laboratory screening of dried blood spot (DBS) specimens. Numbers of cases for 33 disorders on the RUSP (32 DBS disor...
Source: MMWR Morb Mortal Wkl... - Category: Epidemiology Authors: Tags: MMWR Morb Mortal Wkly Rep Source Type: research
To measure parental perceptions of child vulnerability, as a precursor to developing a population-scale mechanism to mitigate harm after newborn screening.
Source: The Journal of Pediatrics - Category: Pediatrics Authors: Tags: Original Article Source Type: research
Heel-prick tests are already used in Britain to check for nine rare but serious conditions, including cystic fibrosis and sickle cell disease. Scientists are pushing for diabetes to be added.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
CONCLUSIONS: There is no evidence for managing adults, or children who do not have HbSS sickle cell disease. In children who are at higher risk of stroke and have not had previous long-term transfusions, there is moderate quality evidence that long-term red cell transfusions reduce the risk of stroke, and low quality evidence they also reduce the risk of other sickle cell disease-related complications. In primary and secondary prevention of stroke there is low quality evidence that switching to hydroxyurea with phlebotomy has little or no effect on the liver iron concentration. In secondary prevention of stroke there is lo...
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
CONCLUSIONS: Reports on the use of hematopoietic stem cell transplantation improving survival and preventing symptoms and complications associated with sickle cell disease are currently limited to observational and other less robust studies. We did not find any eligible randomized controlled trials assessing the benefit or risk of hematopoietic stem cell transplantations. However, there is an ongoing quasi-randomized trial comparing hematopoietic stem cell transplantation with standard care, Thus, this systematic review identifies the need for a multicentre randomized controlled trial assessing the benefits and possible ri...
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
CONCLUSIONS: There is insufficient evidence from randomised trials to determine whether conservative preoperative blood transfusion is as effective as aggressive preoperative blood transfusion in preventing sickle-related or surgery-related complications in people with HbSS disease. There is very low quality evidence that preoperative blood transfusion may prevent development of acute chest syndrome. Due to lack of evidence this review cannot comment on management for people with HbSC or HbSβ+ disease or for those with high baseline haemoglobin concentrations. PMID: 32614473 [PubMed - as supplied by publisher]
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
CONCLUSIONS: This updated Cochrane Review did not identify any randomised controlled trials assessing interventions for treating intrahepatic cholestasis in people with sickle cell disease. Randomised controlled trials are needed to establish the optimum treatment for this condition. PMID: 32567054 [PubMed - in process]
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
This article details the lived experience of one family in which both siblings have ME and comorbidities. PMID: 32568150 [PubMed - as supplied by publisher]
Source: Work - Category: Occupational Health Authors: Tags: Work Source Type: research
Two manuscripts by Farrell et al in this volume of The Journal explore the potential psychosocial complications of carrier status notification for sickle cell hemoglobinopathy (SCH) and cystic fibrosis (CF) after newborn screening (NBS). Both articles stem from the Wisconsin Project on Improvement of Communication and Process Outcomes after Newborn Screening. In the first, qualitative telephone interviews with parents were conducted after NBS carrier status was disclosed by a primary care provider to evaluate for effectiveness of results communication, misconception of the child ’s risk for disease, and parental anxiety.
Source: The Journal of Pediatrics - Category: Pediatrics Authors: Tags: Editorials Source Type: research
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