First genetically-modified human embryos could be created in Britain

The first genetically-modified human embryos could be created in Britain within weeks according to the scientists who are about to learn whether their research proposal has been approved by the fertility watchdog.

Although it will be illegal to allow the embryos to live beyond 14 days, and be implanted into the womb, the researchers accepted that the research could one day lead to the birth of the first GM babies should the existing ban be lifted for medical reasons.

A licence application to edit the genes of “spare” IVF embryos for research purposes only is to be discussed on 14 January by the Human Fertilisation and Embryology Authority (HFEA), with final approval likely to be given this month.

Read more:
IVF: First genetically-modified human embryos 'could be created in Britain within weeks' 

Source: The Independent

DNA Extraction Protocol - Watch a Video

DNA extraction is crucial for acquiring an initial sample for techniques such as PCR, DNA sequencing, and electrophoresis. However, these processes require a high yield and the removal of impurities (such as cell debris) to successfully provide truthful findings. For example, the presence of contaminants such as DNases can lead to the breakdown of DNA and so reduce the overall yield, potentially below the required sample amount.

This video will help optimize your DNA extraction technique, clearly explaining and offering tips on how to achieve efficient, reliable results; avoiding contamination and poor yield.

Read more:
Protocol 1 DNA Extraction

Source: Youtube via  The Jackson Laboratory

Candy DNA

Building delicious A- T and G - C pairs

Source: Twitter via Adam Wolfe

Free Online Atlas of Genetics in Haematology

The Atlas of Genetics and Cytogenetics in Oncology and Haematology is a peer reviewed on-line journal, encyclopaedia and database in free access on the Internet, devoted to genes, cytogenetics, and clinical entities in cancer, and cancer-prone diseases.

The aim is to cover the entire field under study. It presents structured reviews (cards) or traditional review papers ('deep insights'), a portal towards genetics and/or cancer databases and journals, teaching items in Genetics for students in Medicine and in Sciences, and a case report in hematology section.

It is made for and by: clinicians and researchers in cytogenetics, molecular biology, oncology, haematology, and pathology. Contributions are reviewed before acceptance. It deals with cancer research and genomics. It is at the crossroads of research, virtual medical university (university and post-university e-learning), and telemedicine. It contributes to "meta-medicine", this mediation, using new information technology, between the increasing amount of knowledge and the individual, having to use the information. Towards a personalized medicine of cancer.

Open Atlas here:
Atlas of Genetics and Cytogenetics in Oncology and Haematology

Source: atlasgeneticsoncology.org

Scientist´s Mind

What happens if you take a scientist out of lab and force her to make routine office work?

Source: S|PYROGIF

New Test Identifies What’s Causing Your Infection - Bacteria or Virus?

Acute respiratory infections caused by bacterial or viral pathogens are among the most common reasons for seeking medical care. Despite improvements in pathogen-based diagnostics, most patients receive inappropriate antibiotics. Host response biomarkers offer an alternative diagnostic approach to direct antimicrobial use.

This observational cohort study determined whether host gene expression patterns discriminate noninfectious from infectious illness and bacterial from viral causes of acute respiratory infection in the acute care setting.

Peripheral whole blood gene expression from 273 subjects with community-onset acute respiratory infection (ARI) or noninfectious illness, as well as 44 healthy controls, was measured using microarrays. Sparse logistic regression was used to develop classifiers for bacterial ARI (71 probes), viral ARI (33 probes), or a noninfectious cause of illness (26 probes). Overall accuracy was 87% (238 of 273 concordant with clinical adjudication), which was more accurate than procalcitonin (78%, P < 0.03) and three published classifiers of bacterial versus viral infection (78 to 83%). The classifiers developed here externally validated in five publicly available data sets (AUC, 0.90 to 0.99). A sixth publicly available data set included 25 patients with co-identification of bacterial and viral pathogens. Applying the ARI classifiers defined four distinct groups: a host response to bacterial ARI, viral ARI, coinfection, and neither a bacterial nor a viral response.

These findings create an opportunity to develop and use host gene expression classifiers as diagnostic platforms to combat inappropriate antibiotic use and emerging antibiotic resistance.

Read more:
Host gene expression classifiers diagnose acute respiratory illness etiology

Source: Science Translational Medicin

Principles of genome analysis and genomics - Free eBook

Principles of Genome Analysis and Genomics
Sandy B. Primrose Business and Technology Management High Wycombe
Buckinghamshire, UK Richard M. Twyman Department of Biology University of York York, UK
THIRD EDITION.

Free eBook published by Life Sciences Academy Gwalior

Download here:
principles of genome analysis and genomics.pdf 

Source: Life Sciences AcademyGwalior

I love you also in molecular level

Genetic machmaking <3

New Blood Test for Active Tuberculosis

The new test developed in the Khatri lab works on an ordinary blood sample and removes the need to collect sputum. It can signal a TB infection even if the individual also has HIV. And it won’t give a positive response if someone only has latent TB or has had a TB vaccine. It also doesn’t matter which strain of TB has infected a person, or even if it has evolved resistance to antibiotic drugs. The test works in both adults and children.

WHO has called for a test that would give a positive result at least 66 percent of the time when a child has active TB. The Khatri test is 86 percent sensitive in children. And if the test comes up negative, it’s right 99 percent of the time. That is, of 100 patients who test negative with the Khatri test, 99 do not have active TB.

When pathogens infect the cells of the body, the infection sets off a chain reaction that changes the expression of hundreds of human genes. Khatri’s team identified three human genes whose expression changes in a consistent pattern, revealing the presence of an active tuberculosis
infection. The team validated the new three-gene test in a separate set of 1,400 human samples from 11 different data sets, confirming the diagnostic power of the test.

The new test not only accurately distinguishes patients who have active tuberculosis, it could also be used to monitor patients to see if they are getting better and how well they are responding to different
treatments.

The requirements of the test are simple enough that it can potentially be done under relatively basic field conditions in rural and undeveloped areas of the world. Any hospital should be able to perform the test. Villages without electricity could likely use ordinary blood samples and a solar-powered PCR machine, which multiplies strands of DNA, to accurately test people for active TB.

Read more:
Blood test could transform tuberculosis diagnosis, help monitor treatment effectiveness


Source: News Center |Stanford Medicine

Sickle cell disease: challenges and progress

Despite a long history of knowing the genetic cause of sickle cell disease (SCD), progress in developing treatments to prevent painful vaso-occlusive crises and the other myriad of associated symptoms has, until recently, been disappointingly slow. As long ago as 1949, Pauling et al described sickle cell anemia as a molecular disease, with two other groups convincingly describing it as an inherited disorder. Details of the mutation (replacement of glutamic acid with valine in the 6th position of the hemoglobin [Hb] β-chain) were first described by Ingram in 1956. Despite these early discoveries, the life expectancy of sickle cell patients only began to improve significantly within the last 30 years, first with the introduction of prophylactic penicillin V in the 1980s, followed by more aggressive blood transfusions, and in 1998, with the introduction of hydroxyurea as a mainstay of treatment. Beyond the mutation of Hb as the cause of SCD, Hebbel et al initiated a new era of research in 1980 by introducing the concept that sickle red blood cells (RBCs) are abnormally adhesive. Many subsequent studies from Hebbel et al and others led to the realization that not only sickle RBCs but other blood cells, especially leukocytes and platelets, are activated and have the potential to contribute to vaso-occlusive crises. This is a backdrop for the current review series. Over the last few years, our understanding of the complexities of cellular, plasma, and genetic contributors to the various symptoms of SCD has accelerated. New drugs and genetic cures are on the horizon. In this review series, five leading groups provide updates on important aspects of SCD.

• Neutrophils, platelets, and inflammatory pathways at the nexus of sickle cell disease pathophysiology 
• Beyond hydroxyurea: new and old drugs in the pipeline for sickle cell disease 
• Pathophysiology and treatment of pulmonary hypertension in sickle cell disease 
• Central nervous system complications and management in sickle cell disease 
• Genetic treatment of a molecular disorder: gene therapy approaches to sickle cell disease

Read more:
Sickle cell disease: challenges and progress

Source: Blood Journal

The Genetics of Rheumatoid Arthritis

There is now a general consensus that RA has a spectrum of disease stages that can begin many years before the onset of clinical symptoms. It is widely thought that understanding the complex interplay between genetics and environment, and their role in pathogenesis, is essential in gaining further insight into the mechanisms that drive disease development and progression. More than 100 genetic susceptibility loci have now been identified for RA through studies that have focused on patients with established RA compared with healthy controls. Studying the early preclinical phases of disease will provide valuable insights into the biological events that precede disease and could potentially identify biomarkers to predict disease onset and future therapeutic targets. In this review we will cover recent advances in the knowledge of genetic and environmental risk factors and speculate on how these factors may influence the transition from one stage of disease to another.

Read more:
The Genetics of Rheumatoid Arthritis

Source: Medscape

KRAS cancer gene - Researchers find strong interaction that could prove to be target for cancer therapies

One of the most common cancer-causing genes has continuously stymied researchers’ efforts to develop treatments against it. Now, researchers at the University of Michigan Comprehensive Cancer Center have dug deeper and exposed a key interaction that may contribute to why mutations in KRAS lead to cancer.

Nearly a third of all cancers have mutations in the RAS family of genes, including KRAS. In pancreatic cancer, a particularly aggressive and difficult-to-treat disease, almost every tumor is driven by KRAS mutations. But KRAS has been thought to be “undruggable” – researchers cannot identify an effective therapy against it.

AGO2 plays a role in silencing genes and processing microRNA – so it impacts many genes. The researchers found AGO2 interacted with both mutated and normal KRAS. The link appeared in all 12 of the cell lines tested. The finding suggests potential to explore interrupting the KRAS-AGO2 interaction as a possible therapy. Additional research is needed. The study authors plan next to try to replicate their cell findings in a mouse model to confirm the interaction. They will also begin to map it in 3D to begin to identify opportunities for potential therapies.

Read more:
New clues to common and elusive KRAS cancer gene

Source: University of Michigan Health System

UK is allowing genetic modification of human embryos

UK Human Fertilisation and Embryology Authority (HFEA) made a landmark decision to grant scientists in London permission to genetically edit human embryos.

Thanks to the new licence, scientists at the Francis Crick Institute will be able to use a system called CRISPR/Cas9 (which is like an IRL copy-and-paste tool for DNA) to modify the genes of developing embryos, with the goal of improving IVF success rates and reducing miscarriages.

This is the first time a national regulatory body anywhere in the world has given the procedure the green light, and it's a huge day for science. But the move has also sparked a lot of concern about the creation of designer babies.

The facts you can share:

1. Genetically editing humans isn't suddenly 'legal' in the UK
2. The embryos used in the experiments will come from donors
3. Don't worry, nothing's happening without ethics approval
4. The embryos won't be brought to term
5. This work could finally reveal how a healthy human embryo develops
6. Experts are calling the decision a "victory for level-headed regulation over moral panic"
7. But critics are worried that we're on a path towards designer babies
8. This isn't the first time that human embryos will be genetically modified
9. Still, CRISPR/Cas 9 is a really big deal
10. There’s no sign of gene editing being allowed in human embryos in the US any time soon

Read more:
10 things you need to know about the UK allowing genetic modification of human embryos 


Source: ScienceAlert

Improving Real-Time PCR Data Quality

The polymerase chain reaction (PCR) has radically transformed biological science, allowing sophisticated analysis of genes and the genome. Revolutionizing the study of DNA, PCR is often hailed as one of the most important scientific advances of the 20th century. Over time, PCR has evolved into fluorescence-based quantitative real-time PCR (qPCR), which is now considered the molecular diagnostic technique of choice due to its capacity to detect and measure minute amounts of nucleic acids in a variety of samples from multiple sources.

Due to its practical simplicity, in combination with its outstanding capabilities, including speed, sensitivity, and specificity, qPCR plays a huge role in a number of applications, among them gene expression analysis, microRNA analysis, single nucleotide polymorphism genotyping, copy number variation analysis, and protein analysis.

The success and reputation of qPCR is reflected in the abundance of publications reporting qPCR data. Despite substantial advances in the accessibility and ease-of-use of qPCR for diagnostics, generating an assay that is capable of delivering reliable, reproducible, and meaningful results is still a challenging task.

Read more:
Improving Real-Time PCR Data Quality

Source: GEN Magazine Articles

Epigenetics Research Reveals a Range of Clinical Possibilities

Modern efforts toward explaining human disease purely based upon sequencing cannot possibly succeed in isolation,” says Andrew P. Feinberg, M.D., professor of medicine and director of the Center for Epigenetics at Johns Hopkins University School of Medicine. “At least half of human disease is caused by exposure to the environment.”

While the contribution of genetic factors to disease is more predictable and easier to study in the case of highly penetrant Mendelian disorders, most medical conditions involve multiple genes that may interact with one another and with environmental factors. Particularly for these conditions, capturing epigenetic changes becomes a crucial aspect of understanding pathogenesis and designing prophylactic and therapeutic interventions.

In a recent study, Dr. Feinberg and colleagues reported that large blocks of the human genome are hypomethylated in the epidermis as a result of sun exposure, which together with aging represents a known risk factor for skin cancer. These hypomethylated regions overlap with regions that have methylation changes in patients with squamous cell carcinoma.

Read more:
Epigenetics Research Reveals a Range of Clinical Possibilities 

Source: GEN

Is privacy possible in the post-genomic era?

Privacy is a fanciful delusion in the post-genomic era, or so said Christopher Mason during a consumer genomics panel at this week’s J.P. Morgan Healthcare Conference.

“I think privacy is going to be really hard to keep, unless you walk around in a hermetically sealed plastic suit,” said Mason, an assistant professor of computational genomics at Weill Cornell Medical College. “You lose cells wherever you walk.”

As a case in point, he gestured to the audience at JPM – and said if everyone left the room, and their DNA was sequenced simply from the genetic material they left behind on the seats, the results would be highly revelatory.

Read more:
Privacy in the post-genomic era: Impossible.

Source: MedCityNews

Chromosomes Explained

Urban genetics

XXOO - Chinese internet slang for sex

Read more:
Urban Dictionary: XXOO

Science Cupcakes

Here's some food for thought: what could make cupcakes any better than they already are? Adding a science flair, of course! As it turns out, many science creatives have given this a try. Check out what we think are the cutest, coolest, cleverest science cupcakes on the web! Scientista-foodies, prepare to eat your eyes out.

Read more:
Study break with Scientista Media for women in science

Source: Scientista

Sweet genes are made of these

Candy DNA to cheer up your Tuesday

Chromosome Structure, Staining, and Naming

A single molecule of DNA spools around histone protein cores forming bead like structures called nucleosomes. Between each nucleosome is a sequence of DNA termed “linker DNA.” The amino acids associated with histones are lysine and arginine. The super coiled form is compacted and can be visualized as a karyotype in laboratory testing.

The centromere is the connection point of the duplicated chromosome, while telomeres are the endpoints. The short arm of the chromosome is termed “p” and the long arm of the chromosome is termed “q.” If we take these two chromosome arms into consideration, there are three types of chromosome morphology:

• Metacentric – Chromosome arms are equal in length
• Sub-centric – One arm is longer than the other
• Acro-centric / Telocentric – One arm is extremely small or even missing

Read more:
Chromosome Structure, Staining, and Naming

 Source: A blog for medical laboratory professionals