One-off CRISPR treatment slows genetic hearing loss in mice. Ivaylo Sarayski / Alamy Stock Photo By Michael Le Page Hearing loss in mice with a form of progressive deafness has been slowed by a one-off treatment using the CRISPR genome editing method. The approach might lead to a treatment that helps stave off hearing loss in people with certain forms of inherited deafness. We have two copies of almost every gene in our body, but in some cases, a mutation in just one of these copies is enough to cause a disease.
So-called dominant genetic disorders are caused by DNA alterations in just one copy of a gene, which leads to a faulty protein being made. In theory, disorders like these could be cured by switching the mutated copy off, and leaving the healthy copy alone so that it can continue making the right protein. Advertisement They focused on a type of deafness known only as DFNA36. Usually, mice carrying a mutant copy of Tmc1 develop serious hearing loss by the time they are four weeks old. This isn’t a complete cure. More on these topics: One-off CRISPR treatment slows genetic hearing loss in mice. 2018 preview: Gene therapy treats disease while in the womb.
Selective disruption of an oncogenic mutant allele by CRISPR/Cas9 induces efficient tumor regression. Skip to Main Content Sign In Register Advanced Search Online ISSN 1362-4962 Print ISSN 0305-1048 Copyright © 2017 Oxford University Press Connect Resources Explore Oxford University Press is a department of the University of Oxford. Close. CRISPR gene-editing tested in a person for the first time. Steve Gschmeissner/Science Photo Library Gene-editing could improve the ability of immune cells to attack cancer.
A Chinese group has become the first to inject a person with cells that contain genes edited using the revolutionary CRISPR–Cas9 technique. On 28 October, a team led by oncologist Lu You at Sichuan University in Chengdu delivered the modified cells into a patient with aggressive lung cancer as part of a clinical trial at the West China Hospital, also in Chengdu. Earlier clinical trials using cells edited with a different technique have excited clinicians. "I think this is going to trigger ‘Sputnik 2.0’, a biomedical duel on progress between China and the United States, which is important since competition usually improves the end product,” he says.
June is the scientific adviser for a planned US trial that will use CRISPR to target three genes in participants’ cells, with the goal of treating various cancers. Protein target Safety first. CRISPR Gene-Editing Tool May Help Improve Cancer Immunotherapy. March 20, 2017, by NCI Staff Using a new tool for editing genomes, known as CRISPR, researchers have genetically engineered immune cells and improved the ability of these cells to kill cancer cells in mice.
The cells were modified to express proteins on their surfaces called chimeric antigen receptors (CARs), which enabled the cells to recognize and attack cancer cells that expressed the corresponding antigen. In experiments with the mice, immune cells that had been engineered to express CARs using CRISPR were more effective at killing tumor cells than immune cells engineered using conventional methods, the researchers reported in Nature on February 22. The type of immunotherapy evaluated in the study is CAR T-cell therapy, a form of adoptive cell transfer. With this treatment, a patient’s own T cells, a type of immune cell, are collected from blood, modified genetically to make them better at attacking tumor cells, expanded in the laboratory, and finally returned to the patient. Genomics of antibiotic-resistance prediction in Pseudomonas aeruginosa - Jeukens - 2017 - Annals of the New York Academy of Sciences. Abstract Antibiotic resistance is a worldwide health issue spreading quickly among human and animal pathogens, as well as environmental bacteria.
Misuse of antibiotics has an impact on the selection of resistant bacteria, thus contributing to an increase in the occurrence of resistant genotypes that emerge via spontaneous mutation or are acquired by horizontal gene transfer. There is a specific and urgent need not only to detect antimicrobial resistance but also to predict antibiotic resistance in silico. We now have the capability to sequence hundreds of bacterial genomes per week, including assembly and annotation. Introduction The damaging effect of antimicrobial resistance (AMR) in infectious diseases is evident and a major preoccupation around the world. In modern societies with excellent healthcare systems, the most recent technologies in diagnostics of infectious diseases, and an arsenal of therapeutics, the costs of treatment is continually increasing because of AMR.
Conclusions. Genomics of antibiotic-resistance prediction in Pseudomonas aeruginosa - Jeukens - 2017 - Annals of the New York Academy of Sciences. Chapter 21: Neuromuscular disorders. The nervous system can be considered a reflex arc designed for analyzing the environment through sensation and then modifying the environment through movement. The neuromuscular component of the nervous system is made up of the first and the last components of this reflex. It consists of the first sensory element and the last motor element.
Table 21-1 lists the parts of this peripheral apparatus. The neuromuscular system has a relatively simple design and physiology. Confirm that such manifestations arise in the peripheral nervous system (either sensory or motor components) rather than in the CNS. The specific neuromuscular diagnosis is made by history, examination and supported by laboratory studies, neurophysiology and, in selected cases, muscle and nerve biopsies and genetic testing. What follows is an integrated picture relating normal and abnormal structure, function and clinical manifestations. Anatomy and Physiology of Peripheral Nerve Fibers Motor Units Disease Mononeuropathy 21-1. Hemophagocytic Lymphohistiocytosis: A Review.
Sirisha Rani Siddaiahgari*, Shirali Agarwal, Pallavi Madukuri and Latha Subramanyam Moodahadu Rainbow Children’s Hospital, Hyderabad, India *Corresponding Author: Sirisha Rani Siddaiahgari Department of Hemato oncology, Rainbow Children’s Hospital, 22 Road No. 4, (Old Road No. 10), Karvy Lanes, Banjara Hills, Hyderabad, Telangana, India Tel: 09959985558 E-mail: lokisiri@gmail.com Received date: Jun 15, 2016; Accepted date: Jul 30, 2016; Published date: Aug 03, 2016 Citation: Siddaiahgari SR, Agarwal S, Madukuri P, Moodahadu LS (2016) Hemophagocytic Lymphohistiocytosis: A Review. Copyright: © 2016 Siddaiahgari SR, et al. Visit for more related articles at Journal of Blood Disorders & Transfusion Abstract Hemophagocytic lymphohistiocytosis (HLH) is a disorder charecterised by immune dysregulation. Keywords Hemophagocytic lymphohistiocytosis diagnostic criteria and management; Flow cytometry role in diagnosis; Newer modalities of HLH treatment Introduction Classification Pathophysiology Markers.
Apelin and pulmonary hypertension. Myotonic dystrophies: An update on clinical aspects, genetic, pathology, and molecular pathomechanisms. <div pearltreesdevid="PTD142" role="alert" class="alert-message-container"><div pearltreesdevid="PTD143" aria-hidden="true" class="alert-message-body"><span pearltreesdevid="PTD144" style="display: inline-block;" class="Icon IconAlert"><svg pearltreesDevId="PTD145" style="width: 100%; height: 100%;" width="24" height="24" focusable="false" tabindex="-1" fill="currentColor"><path pearltreesDevId="PTD146" fill="#f80" d="M11.84 4.63c-.77.05-1.42.6-1.74 1.27-1.95 3.38-3.9 6.75-5.85 10.13-.48.83-.24 1.99.53 2.56.7.6 1.66.36 2.5.41 3.63 0 7.27.01 10.9-.01 1.13-.07 2.04-1.28 1.76-2.39-.1-.58-.56-1.02-.81-1.55-1.85-3.21-3.69-6.43-5.55-9.64-.42-.52-1.06-.83-1.74-.79z"></path><path pearltreesDevId="PTD147" d="M11 8h2v5h-2zM11 14h2v2h-2z"></path></svg></span><!
-- react-text: 55 -->JavaScript is disabled on your browser. Please enable JavaScript to use all the features on this page. <! -- /react-text --></div></div> Highlights Recent advances in the pathomolecular mechanisms Diagnosis and management. Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of CaV1.1 calcium channel. Elimination of Toxic Microsatellite Repeat Expansion RNA by RNA-Targeting Cas9: Cell. New therapeutic strategy developed for myotonic dystrophy - Muscular Dystrophy UK. A new version of CRISPR/Cas9 has been used to remove the toxic RNA that causes myotonic dystrophy. Although this research is still in early stages, it could lead to the development of a potential treatment. CRISPR/Cas9 is a natural system that bacteria use to defend themselves from viral infections.
It contains a section of RNA that recognises and binds to the foreign DNA of a virus. This then guides the Cas9 enzyme, which acts like molecular scissors, to cut and inactivate the viral DNA. CRISPR/Cas9 normally targets DNA only, but Professor Yeo and his team at University of California San Diego School of Medicine have developed a new version that recognises and cuts RNA instead. Myotonic dystrophy is caused by a build-up of RNA inside the cell nucleus. MBNL1 naturally binds RNA and regulates how it is processed. In this new study, Professor Yeo and his team tested the RCas9 system in cells originating from people with myotonic dystrophy type 1 and type 2. Medicine | Cambridge Interview Questions. Subject Interview Guide – Medicine Our Subject Interview Guides help you to prepare and go into your interview with confidence. The Medicine guide discusses Cambridge Interview Questions in depth with answers and approaches – along with possible points of discussion to further demonstrate your knowledge.
The Medicine Guide also includes the Cambridge General Interview Guide. It has been specially edited for applicants for each subject by a team of Oxford and Cambridge graduates. The Cambridge Medicine Interview Guide is available to download now! Order your Cambridge Interview Guide online, and you’ll be sent it in PDF format by email the same day so you can begin your preparation right away. Click the button below to buy right now!
The Cambridge Interview Guide – Medicine The Medicine Interview Guide discusses the following questions in detail: Biology Interview Questions Why does an egg rot? Chemistry Interview Questions Why are explosions a risk in flour mills? General Interview Questions. Medicine | Cambridge Interview Questions. The Functions of MicroRNAs and Long Non-coding RNAs in Embryonic and Induced Pluripotent Stem Cells. Watch this soft robot squeeze a damaged heart to keep it pumping. By Timothy Revell IT’S a pump that could bring your heart back to life. A lack of donated hearts often means people with heart failure die waiting for a replacement.
But now a robotic device has been designed to help out with pumping duties to keep diseased hearts beating for longer. Nikolay Vasilyev at Boston Children’s Hospital, one of the creators of the device, hopes it may even allow a full heart recovery, rendering a transplant unnecessary. The device consists of an implanted semi-circular brace that hugs the diseased chamber, surrounding it with an inflatable sleeve.
To keep it in place, it is anchored to the interventricular septum – a sturdy wall that separates the heart’s two main chambers. Other devices tend to bypass the damaged heart, Obesity may accelerate the ageing process. By Rowan Hooper Obesity accelerates the ageing process even more than smoking, according to the largest ever study of the “chromosomal clock” in human cells. Tim Spector of St Thomas’ Hospital in London, UK, measured the length of the ends of chromosomes, called telomeres, in the white blood cells of 1122 women aged 18 to 76.
Each time a cell divides, its telomere loses a small chunk of DNA. When it becomes too short, cells can no longer divide. In effect, telomere shortening acts as a kind of chromosomal clock, counting down the cellular generations. Spector found that the white blood cells of the youngest women had telomeres that were around 7500 base pairs long. Their length declined with age at an average rate of 27 base pairs per year. When lifestyle factors were taken into account, however, dramatic differences emerged. Advertisement Fat smokers Smoking was the other big factor. And there is a synergistic effect. And the effects appear to be permanent. “Telomere age difference” Alternating antibiotic treatments constrain evolutionary paths to multidrug resistance. NHS Hot Topics: Antibiotic Resistance - The Medic Portal. Welcome to our new series on NHS Hot Topics 2017! These blogs will cover one recent piece of medical news from this year in detail.
Want expert interview preparation? Try our one-day Interview Course! Book the one-day Interview Course In a Nutshell Since the early 2000s, the paradigm shift of pharmaceutical companies from producing essential antibiotics to more “fashionable” treatments such as those for cancer and chronic disease has been well noted. The last new class of antibiotics developed for widespread use was founded in 1993 and this has led to a reduction in the variety of treatments available to treat a whole range of illnesses, from community acquired UTIs to pneumonia. Antibiotic resistance is still a huge problem throughout the world. What are the causes? One key paper titled The Antibiotic Resistance Crisis gave an excellent summary of the main causes responsible for antibiotic resistance.
Overuse Inappropriate Prescribing Extensive Agricultural Use As discussed above. Vaccination: Molecular biology of distal muscular dystrophies—Sarcomeric proteins on top. <div pearltreesdevid="PTD142" role="alert" class="alert-message-container"><div pearltreesdevid="PTD143" aria-hidden="true" class="alert-message-body"><span pearltreesdevid="PTD144" style="display: inline-block;" class="Icon IconAlert"><svg pearltreesDevId="PTD145" style="width: 100%; height: 100%;" width="24" height="24" focusable="false" tabindex="-1" fill="currentColor"><path pearltreesDevId="PTD146" fill="#f80" d="M11.84 4.63c-.77.05-1.42.6-1.74 1.27-1.95 3.38-3.9 6.75-5.85 10.13-.48.83-.24 1.99.53 2.56.7.6 1.66.36 2.5.41 3.63 0 7.27.01 10.9-.01 1.13-.07 2.04-1.28 1.76-2.39-.1-.58-.56-1.02-.81-1.55-1.85-3.21-3.69-6.43-5.55-9.64-.42-.52-1.06-.83-1.74-.79z"></path><path pearltreesDevId="PTD147" d="M11 8h2v5h-2zM11 14h2v2h-2z"></path></svg></span><!
-- react-text: 55 -->JavaScript is disabled on your browser. Please enable JavaScript to use all the features on this page. <! -- /react-text --></div></div> Abstract Keywords Muscular dystrophy Distal dystrophy Distal myopathy Molecular genetics. Myotonic dystrophy CTG repeat expansion alters Ca2+ channel functional expression in PC12 cells. <div pearltreesdevid="PTD142" role="alert" class="alert-message-container"><div pearltreesdevid="PTD143" aria-hidden="true" class="alert-message-body"><span pearltreesdevid="PTD144" style="display: inline-block;" class="Icon IconAlert"><svg pearltreesDevId="PTD145" style="width: 100%; height: 100%;" width="24" height="24" focusable="false" tabindex="-1" fill="currentColor"><path pearltreesDevId="PTD146" fill="#f80" d="M11.84 4.63c-.77.05-1.42.6-1.74 1.27-1.95 3.38-3.9 6.75-5.85 10.13-.48.83-.24 1.99.53 2.56.7.6 1.66.36 2.5.41 3.63 0 7.27.01 10.9-.01 1.13-.07 2.04-1.28 1.76-2.39-.1-.58-.56-1.02-.81-1.55-1.85-3.21-3.69-6.43-5.55-9.64-.42-.52-1.06-.83-1.74-.79z"></path><path pearltreesDevId="PTD147" d="M11 8h2v5h-2zM11 14h2v2h-2z"></path></svg></span><!
-- react-text: 55 -->JavaScript is disabled on your browser. Please enable JavaScript to use all the features on this page. <! -- /react-text --></div></div> Edited by Berend Wieringa Abstract Keywords Ca2+ channels CTG repeats Myotonic dystrophy. CV Pharmacology | Cardiac Glycosides (Digitalis Compounds) Use of digoxin in heart failure with reduced ejection fraction. Cardiac arrhythmias due to digoxin toxicity. Cardiac arrhythmias due to digoxin toxicity. Myotonic dystrophy CTG repeat expansion alters Ca2+ channel functional expression in PC12 cells. 003. Cardiovascular Medicine. Myotonic Dystrophy: Discussion of Molecular Basis - Madame Curie Bioscience Database - NCBI Bookshelf. Abdala RettUK Jun2017 2. Inhibition of histone deacetylases in cancer therapy: lessons from leukaemia.
T-cell chimeric antigen receptor therapy for T-cell leukaemia* 1415. CHD7 gene. Clinical features and diagnosis of hemophagocytic lymphohistiocytosis. Alzheimer’s may be able to spread through blood transfusions. BMAT sample questions with answers. The Mechanism of Digoxin's (Lanoxin) Increase in Inotropy (Force of Contraction of the Heart) CV Pharmacology | Cardiac Glycosides (Digitalis Compounds) How to get into Cambridge | Louise's Medicine Blog. Cancer-genome study challenges mouse 'avatars' : Nature News & Comment. BMAT Book | UniAdmissions. Bmat presentation. WHO launches bold plan to slash cholera deaths by 90 per cent. We’re nearly ready to use CRISPR to target far more diseases. BMAT mini mock paper & answers | Oxbridge Applications. Dr Stephen Price | Queens' College. Dr Anna Paterson | Queens' College. Professor David Menon | Queens' College. Dr Janet Maguire | Queens' College.
Content Player. We still don’t really know what CRISPR does to human embryos. Why has a UK team genetically edited human embryos?