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Can anyone guide me to the latest advances in gene therapy for ataxia with oculomotor apraxia type 2?

Gene therapy or stem cell therapy for ataxia #Neurology #Genetics  
Aasia
almost 5 years ago
Musclegenes
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Do you have the "fat gene" and can you beat it? Dr. Daniel Reardon, co-founder of MuscleGenes is on the case...

MuscleGenes has been chosen to partner with leading sports science researchers at Loughborough University on the FTO gene. This research will further our understanding of the fundamental question, "Am I genetically programmed to be overweight?"  
finance.yahoo.com
almost 5 years ago
Preview
5
123

Genome Editing with CRISPR-Cas9

This animation depicts the CRISPR-Cas9 method for genome editing – a powerful new technology with many applications in biomedical research, including the potential to treat human genetic disease.  
youtube.com
almost 5 years ago
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1
85

1) CRISPR Cas9 - A Brief Introduction

CRISPR-cas9 system is a versatile and robust genome editing system with showing success in various model organisms. In this video, you will be introduced to this technology and its various applications and its impact on genome engineering.  
youtube.com
almost 5 years ago
Www.bmj
0
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Diagnosis and treatment of cancer using genomics

The field of cancer diagnostics is in constant flux as a result of the rapid discovery of new genes associated with cancer, improvements in laboratory techniques for identifying disease causing events, and novel analytic methods that enable the integration of many different types of data. These advances have helped in the identification of novel, informative biomarkers. As more whole genome sequence data are generated and analyzed, emerging information on the baseline variability of the human genome has shown the importance of the ancestral genomic background in patients with a potential disease causing variant. The recent discovery of many novel DNA sequence variants, advances in sequencing and genomic technology, and improved analytic methods enable the impact of germline and somatic genome variation on tumorigenesis and metastasis to be determined. New molecular targets and companion diagnostics are changing the way geneticists and oncologists think about the causes, diagnosis, and treatment of cancer.  
feeds.bmj.com
almost 5 years ago
Preview
1
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Genetics - Genetic testing and counselling - NHS Choices

Genetic testing can be used to find out whether a person is carrying a specific genetic mutation (altered gene) that causes a particular medical condition.  
nhs.uk
almost 5 years ago
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1
26

A Foundation for Neonatal Care

This authoritative guide offers a vital overview including the recent fundamental changes in the care of newborn babies. As well as medical staff, key roles are now played by senior nurses, clinical nurse specialists, pharmacists, advanced neonatal nurse practitioners, nurse consultants, midwives, dieticians, physiotherapists and speech therapists. The involvement of such a diverse range of professional cultures in such a rapidly developing area often leads to competing priorities, complicated by a lack of established guidelines. There is also the added challenge of fetal medicine - an important emerging allied specialty new to many healthcare professionals. This book assists all professionals involved in the provision of neonatal care in understanding the genetic, physiological and biochemical mechanisms which have either led to or are associated with the clinical conditions affecting their patients. With comprehensive chapters on fetal medicine, genetics, inherited biochemical disorders, fundamental physiological concepts, the cardiovascular, renal and respiratory systems, bacterial and transplacental infections, pharmacokinetics, nutrition, and an overview of haemostasis, A Foundation For Neonatal Care aids understanding of the continuum of developmental physiology and pathology which is now required of neonatal care providers.  
books.google.co.uk
almost 5 years ago
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2
81

Oxford Handbook of Paediatrics

Now fully revised and updated with the latest guidelines, this new edition of the Oxford Handbook of Paediatrics is a compact guide to all aspects of acute and chronic paediatrics. The handbook's team of specialist contributors and editors have successfully condensed many years of clinical experience into a pocket-sized compendium of clinical problems and treatment options. Taking a child-centred approach to the subject, the authors have provided comprehensive coverage of areas such as neonatology, surgery, genetics and congenital malformations, and child protection in a user-friendly and succinct style. Sections are also devoted to covering the treatment of children in the community, and the psychological effects of illness on both the child and their family. All chapters have been updated for this new edition, with completely overhauled chapters on neurology and respiratory medicine, the latest management guidelines on inherited metabolic disease, further information on medical and research ethics, and enhanced usage of diagnostic and treatment algorithms. With practical advice and space for personalized notes, this handbook will be invaluable to all those involved in the care of the younger patient.  
books.google.co.uk
over 4 years ago
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2
99

Diagnostic Pathology: Infectious Diseases

Diagnostic Pathology: Infectious Diseases takes a comprehensive look at infectious diseases, their anatomic manifestations, and how to ensure a complete and accurate sign out at the microscope. A user-friendly chapter landscape and thousands of high-quality images combine to make this medical reference book a key companion for the general surgical pathologist or resident in training. Comprehensive discussions on how to sign out cases. Formatted into sections by organism type (Virus, Bacteria, Fungi, and Parasite), and further divided by those that can be diagnosed on histological appearance. Species-specific pathologies for finding "zebra" cases.Essential information is listed in a bulleted format with numerous high-quality images to facilitate learning."Key Facts" highlight the quick criteria needed for diagnosis or adequacy evaluation at the time of a procedure.Features clear pictures of diagnostic forms, ancillary diagnostic tools, including microbiology and molecular diagnostics, pathological reaction patterns expected for given organisms, and important common and uncommon pathogens.Explains when and when not to use molecular diagnostics, and discusses histological limitations and how to address them at sign out.  
books.google.co.uk
over 4 years ago
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Genetics of Congenital Heart Disease

This is presentation on the genetics of congenital heart diseases for any students interested in pediatric cardiology.  
slideshare.net
over 4 years ago
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Translational Psychiatry - Functional genomics indicate that schizophrenia may be an adult vascular-ischemic disorder

Translational Psychiatry explores the more translational area between the research in neuroscience and conceptually novel treatments  
nature.com
over 4 years ago
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Using Genetics to Improve Medicine

Readers discuss an Op-Ed essay that was skeptical about the benefits.  
nytimes.com
over 4 years ago
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Experimental & Molecular Medicine - Prognostic role of genetic biomarkers in clinical progression of prostate cancer

Experimental & Molecular Medicine is an open access journal that publishes the highest quality articles in translational research and biomedical studies.  
nature.com
over 4 years ago
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5
194

What is Autosomal Recessive Inheritance?

This describes autosomal recessive inheritance and a how an autosomal recessive trait is passed along in families.  
youtube.com
over 4 years ago
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Silvia Paracchini: Dyslexia and Genetics - Nuffield Department of Medicine

Dr Silvia Paracchini aims to indentify the genetic components of dyslexia and understand the underlying biology. Other disorders such as Specific Language Impairment or Attention Deficit Hyperactivity Disorder are commonly linked to dyslexia. Dr Paracchini is looking for possible common genes for these clinically distinct disorders. Her research has the potential to uncover some of the biological mechanisms involved in human cognition.  
ndm.ox.ac.uk
over 4 years ago
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Anna Gloyn: Genetics and Diabetes - Nuffield Department of Medicine

The research undertaken by Professor Anna Gloyn focuses on using naturally genetic variants identified in humans as tools to identify critical regulatory pathways for insulin secretion and action. Current research projects are focused on the translation of genetic association signals for type 2 diabetes and glycaemic traits into molecular mechanisms for diabetes and clinically useful tools.  
ndm.ox.ac.uk
over 4 years ago
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Epigenetics - An Introduction

This sketch video about epigenetics was created by Armando Hasudungan, in collaboration with Professor Susan Clark and Dr Kate Patterson at the Garvan Instit...  
youtube.com
over 4 years ago
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Implementing Pharmacogenetics with Kristen Reynolds

Kristen takes a look at adverse drug reactions occurring secondary to identifiable genetic risk factors. She looks at the evidence supporting genetic testing...  
youtube.com
over 4 years ago
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Embryology of neural tube development - Sadler - 2005 - American Journal of Medical Genetics Part C: Seminars in Medical Genetics - Wiley Online Library

Our site uses cookies to improve your experience. You can find out more about our use of cookies in About Cookies, including instructions on how to turn off cookies if you wish to do so. By continuing to browse this site you agree to us using cookies as described in About Cookies.  
onlinelibrary.wiley.com
over 4 years ago
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Rapid Molecular Diagnostic Device Spots Pathogenic DNA Within Four Minutes |

Quantitative polymerase chain reaction is a technique used for spotting specific DNA molecules by amplifying samples and performing detection at the same t  
medgadget.com
over 4 years ago