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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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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
Conclusion: The prevalence of hypertrophic cardiomyopath y in fetuses of pregnant women with GDM before treatment was of 54% (95%CI: 41.3-65.1%).RESUMO Objetivo: Avaliar a preval ência de miocardiopatia hipertrófica em fetos de gestantes com diabetes mellitus gestacional antes do início do tratamento. Métodos: Foi realizado um estudo de corte transversal, no período de 1o de julho de 2013 até 20 de dezembro de 2013, em uma maternidade pública. Foram objetos do estudo 63 fetos de gestantes portadoras de diabetes mellitus gestacional (DMG), em gestação únic...
Source: Revista Brasileira de Ginecologia e Obstetricia - Category: OBGYN Source Type: research
ConclusionsThis report suggests the implication of other factors in addition to glycemic disorders, including genetic factors, in the occurrence of macrosomia and severe hypertrophic cardiomyopathy in neonates. These three original observations indicate that gynecologists and neonatologists should pay attention to neonates from mothers with a high body mass index and when maternal diabetes is not documented.
Source: Journal of Medical Case Reports - Category: Journals (General) Source Type: research
Diabetes mellitus represents the most common medical condition causing complications during pregnancy. However, there is still some controversy surrounding complications. Maternal hyperglycemia leads to fetal hyperglycemia. Offspring of diabetic mothers compensate excess glucose concentrations by producing higher levels of insulin causing transient hyperinsulinemia. Infants of diabetic mothers are at risk for congenital cardiac malformations, of which 40% are with hypertrophic cardiomyopathy. However, regardless of severity, cardiac hypertrophy is transient with echocardiographic resolution within the first months after birth.
Source: Medical Hypotheses - Category: Biomedical Science Authors: Source Type: research
We describe a pediatric proband with fatal restrictive cardiomyopathy associated with septal hypertrophy and compound heterozygosity for TNNC1 mutations (NM_003280: p.A8V [c.C23T] and p.D145E [c.C435A]). This association between restrictive cardiomyopathy and TNNC1 mutations was strengthened by prospective observations on the second pregnancy in the family which revealed, in the presence of the same TNNC1 genotype, prenatally diagnosed hypertrophic cardiomyopathy which evolved into restrictive cardiomyopathy, heart failure and death at the age of 9 months. Contrary to previous reports, family and population analyses showed...
Source: American Journal of Medical Genetics Part A - Category: Genetics & Stem Cells Authors: Tags: Clinical Report Source Type: research
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