Researchers successfully edit 1st human embryo with CRISPR

Scientists have successfully edited genes in a human embryo, correcting a disease-causing mutation to prevent the defect from being inherited. The groundbreaking process, covered in a paper published yesterday in Nature, was confirmed last week by the Oregon Health and Science University, which collaborated with the Salk Institute and Korea’s Institute for Basic Science on the task. To edit the genetic mutation, in this case for hypertrophic cardiomyopathy, researchers used a technique known as CRISPR-Cas9. The CRISPR-Cas9 technique operates as a sort of ‘molecular scissors’ which can trim away unwanted parts of a genome and replace it with new pieces of DNA. “We have demonstrated the possibility to correct mutations in a human embryo in a safe way and with a certain degree of efficiency,” study co-author Juan Izpisua Belmonte of the Salk Institute’s Gene Expression Laboratory said in a prepared release. The technique has been attempted multiple times in China with mixed results. To improve the chance of success, researchers introduced the genome editing components along with sperm from a male with the particular gene defect during the in vitro fertilization process. Researchers said that the embryo used the available, healthy copy of the gene to repair the mutated part. The study team reported that the gene correction did not cause any detectable mutations in other parts of the genome, which has served as a major concern for gene editing. ...
Source: Mass Device - Category: Medical Devices Authors: Tags: Biotech Research & Development Source Type: news

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It is needless to say that heart disease in pregnancy is a challenge for the obstetrician and the cardiologist. Hemodynamic changes in pregnancy and labour can adversely affect many of the significant cardiac lesions. Increase in blood volume and heart rate are the important factors during pregnancy. In general stenotic lesions and pulmonary hypertension are poorly tolerated, while regurgitant lesions are better tolerated. Specific risks like aortic dissection and rupture are there for coarctation of aorta. Several risk stratification schemes have been developed for assessing the risk of pregnancy with heart disease over ...
Source: Cardiophile MD - Category: Cardiology Authors: Tags: General Cardiology CARPREG II risk scoring CARPREG risk stratification mWHO classification ZAHARA risk score Source Type: blogs
In this study, we investigated the functional significance of a novel human Hsp20 mutation (S10F) in peripartum cardiomyopathy. Previous findings showed that cardiac-specific overexpression of this mutant were associated with reduced autophagy, left ventricular dysfunction and early death in male mice. However, this study indicates that females have normal function with no alterations in autophagy but died within a week after 1-4 pregnancies. Further examination of mutant females revealed left ventricular chamber dilation and hypertrophic remodelling. Echocardiography demonstrated increases in left ventricular end-systolic...
Source: J Cell Mol Med - Category: Molecular Biology Authors: Tags: J Cell Mol Med Source Type: research
We report the clinical follow-up of two patients with non-obstructive HCM implanted with a cardioverter defibrillator (ICD) allowing for continuous analysis of heart rate (HR), heart rate variability (HRV) and cardiac arrhythmia throughout the entire course of pregnancy. Both patients experienced increased HR and decreased HRV from the early stages of pregnancy, which persisted until delivery. Premature ventricular contractions (PVCs) and runs of non-sustained ventricular tachycardia (NSVT) reached a peak in the second and third trimesters, concurrent with sympathetic hyperactivity. In one patient with baseline NYHA class ...
Source: Revista Portuguesa de Cardiologia - Category: Cardiology Source Type: research
We report a case of a 43-year-old pregnant woman presenting with symptomatic hypertrophic obstructive cardiomyopathy (HOCM). As her pregnancy progressed, her HOCM worsened both symptomatically and by objective echocardiographic data. These changes continued despite optimized medical therapy. After an in-depth discussion with both the patient and family, we proceeded with alcohol septal ablation, which was successful in both reducing her LVOT gradient and her symptoms. Her pregnancy was overall uneventful, and both she and her child are doing well more than 4 years from the date of the procedure. <Learning objective: Whi...
Source: Journal of Cardiology Cases - Category: Cardiology Source Type: research
We describe two siblings with congenital cataract, cardiomyopathy, hypotonia, intellectual disability and lactic acidosis. Whole exome sequencing revealed a homozygous c.1035dup mutation in the two siblings, supporting a diagnosis of Sengers syndrome. Our patients presented an intermediate form with intellectual deficiency, an unusual feature in Sengers syndrome. This permitted a prenatal diagnosis for a following pregnancy.
Source: Metabolic Brain Disease - Category: Neurology Source Type: research
Conclusion Currently, genetically-inherited conditions like hypertrophic cardiomyopathy cannot be cured, only managed to reduce the risk of sudden cardiac death. For couples where one partner carries the mutated gene, the only option to avoid passing it onto their children is pre-implantation genetic diagnosis. This involves using IVF to create embryos, then testing a cell of the embryo to see whether it carries the healthy or mutated version of the gene. Embryos with healthy versions of the gene are then selected for implantation in the womb. Problems arise if too few or none of the embryos have the correct version of the...
Source: NHS News Feed - Category: Consumer Health News Tags: Genetics/stem cells Source Type: news
Vici syndrome is one of the most extensive inherited human multisystem disorders and due to recessive mutations in EPG5 encoding a key autophagy regulator with a crucial role in autophagosome–lysosome fusion. The condition presents usually early in life, with features of severe global developmental delay, profound failure to thrive, (acquired) microcephaly, callosal agenesis, cataracts, cardiomyopathy, hypopigmentation, and combined immunodeficiency. Clinical course is variable but usually progressive and associated with high mortality. Here, we present a fetus, offspring of consanguineous parents, in whom callosal a...
Source: American Journal of Medical Genetics Part A - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research
Test your medicine knowledge with the MKSAP challenge, in partnership with the American College of Physicians. A 28-year-old pregnant woman is evaluated for a cardiac murmur identified on examination by her obstetrician. She is asymptomatic. She is in her 24th week of pregnancy. Medical history is unremarkable, and there is no family history of heart disease. She takes prenatal vitamins and no other medications. On physical examination, she is afebrile, blood pressure is 120/70 mm Hg, pulse rate is 86/min, and respiration rate is 18/min. Cardiac examination reveals a midsystolic ejection click followed by a grade...
Source: Kevin, M.D. - Medical Weblog - Category: General Medicine Authors: Tags: Conditions Heart Source Type: blogs
This editorial refers to ‘Pregnancy in women with hypertrophic cardiomyopathy: data from the European Society of Cardiology initiated Registry of Pregnancy and Cardiac disease (ROPAC)’††, by S. Golandet al., on page2683.
Source: European Heart Journal - Category: Cardiology Source Type: research
ConclusionAlthough most women with HCM tolerated pregnancy well, cardiovascular complications were not uncommon and predicted by pre-pregnancy status facilitating pre-pregnancy counselling and targeted antenatal care.
Source: European Heart Journal - Category: Cardiology Source Type: research
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