Visualizing looks of the future lab

Driven forward by improving technologies and increasing demands, the lab of the future could be markedly different in appearance from the laboratories we work in today. From incorporating 3D printing technology to changing the way that lab data is recorded, we take a closer look at how the next generation of laboratories might evolve. 

The paperless lab concept is not a particularly new one, and many laboratories currently operate without physically recording research and development. Tablet devices allow laboratory teams to record their findings electronically, reducing physical waste and optimising storage organisation.

However, Cloud storage tools have made it simpler for laboratory workers to save their findings in a safe and accessible location. This allows laboratories around the world to help and assist each other in real time. The commercial science lab of the future could incorporate Cloud-connected devices to alert the team of relevant updates and developments. Increased connectivity could help ensure less of the budget and less time is wasted, and more is invested in genuine progress. This momentum towards a paperless research laboratory will require labs to obtain access to trusted servers, data centres and secure network connectivity.

The increasing power and availability of 3D printers have made it possible (not to mention affordable) to create pieces of hardware in the laboratory. Specially designed nails, screws and other important components can be created to fit specific requirements. A number of design companies offer open-source hardware printing services, which enable labs with access to 3D printers to immediately develop their own hardware essentials.

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A personal interpretation

There is a clear move away from a ‘one size fits all’ approach to medicine and instead a new personalized medicine strategy is becoming more important. Mike Furness explains more about multiomics.

It has been known for a while that people with different genotypes respond to drugs differently. Knowledge gained from studying rare genetic disease has improved understanding of important biological pathways, creating the opportunity for more effective treatments.

For early developmental diseases this has meant that each symptom is investigated in isolation, by a specialist in that area. The patient is sent from one clinician to another. On average a child with a rare genetic disease will been seen by seven physicians over a five year period before a diagnosis may be found. For many of these children there will be no diagnosis but recent advances in genomics will address this problem.

It was against this background that the Discovering Development Disease (DDD) project was established between the NHS and the Wellcome Trust Sanger Institute. It has so far genotyped around 14,000 children with undiagnosed conditions and their parents, providing diagnoses for around 40% of these families, and identifying clusters of affected children that had similar clinical characteristics and shared damaging genetic variants in the same gene. Many of these genetic diseases are so rare that a clinician may see only one or two cases in a career; so being able to compare their patient’s genetics to this growing body of knowledge is a major step forward in helping consultants determine a definitive diagnosis.

Read more: A personal interpretation

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A clinical look at the future of pathology

Rapid change has become a defining feature of pathology – but can this change power a new generation of laboratory software to shape the role of the clinical laboratory of the future?

It will come as no surprise to those in the clinical laboratory and pathology field that the market is undergoing rapid change. In recent decades health expectations have risen globally, with all member states of the World Health Organisation committed to working towards universal health coverage worldwide.

The proper scaling of pathology services is key to this growth, as pathology is involved in 70% of all healthcare diagnoses. If the pathology market follows the compound annual growth rate of 6.8% from 2014 to 2020 as predicted in a new study by market analysts Grand View Research1, then the global market for clinical laboratories is expected to reach US$149 billion by 2020.

Along with the rise of universal healthcare, other factors are driving change in the pathology market. These include an aging population and the rising prevalence of chronic conditions like obesity and diabetes. We are also seeing an upsurge of new testing methods to support initiatives such as personalized medicine, also known as genomic medicine, and point-of-care testing.

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Myasthenia gravis: autoantibody characteristics and their implications for therapy

Myasthenia gravis (MG) is an autoimmune disorder caused by autoantibodies that target the neuromuscular junction, leading to muscle weakness and fatigability. Currently available treatments for the disease include symptomatic pharmacological treatment, immunomodulatory drugs, plasma exchange, thymectomy and supportive therapies. Different autoantibody patterns and clinical manifestations characterize different subgroups of the disease: early-onset MG, late-onset MG, thymoma MG, muscle-specific kinase MG, low-density lipoprotein receptor-related protein 4 MG, seronegative MG, and ocular MG. These subtypes differ in terms of clinical characteristics, disease pathogenesis, prognosis and response to therapies. Patients would, therefore, benefit from treatment that is tailored to their disease subgroup, as well as other possible disease biomarkers, such as antibodies against cytoplasmic muscle proteins. Here, we discuss the different MG subtypes, the sensitivity and specificity of the various antibodies involved in MG for distinguishing between these subtypes, and the value of antibody assays in guiding optimal therapy. An understanding of these elements should be useful in determining how to adapt existing therapies to the requirements of each patient.

Key points

• The characteristic muscle weakness in myasthenia gravis (MG) is caused by antibodies directed against the neuromuscular junction
• MG is divided into subgroups on the basis of specific antibodies, other biomarkers, and clinical characteristics, such as age of onset, presence of thymoma, and involvement of ocular muscles
• The most common antibodies detected in MG are antibodies against acetylcholine receptors (AChRs), muscle-specific kinase (MuSK) and low-density lipoprotein receptor-related protein 4 (LRP4)
• Additional antibodies of interest in MG are directed against agrin, titin, KV1.4, ryanodine receptors, collagen Q, and cortactin
• Therapy should be tailored to the individual patient and guided by MG subgroup, and can include symptomatic drug therapy, immunosuppressive drug therapy, thymectomy and/or supportive therapy
• The aim of treatment should be normal or near-normal function, which in most patients requires long-term immunosuppressive treatment with a drug combination that is individualized for the patient for optimal effectiveness

Introduction

Myasthenia gravis (MG) is an autoimmune disorder caused by antibodies targeting the neuromuscular junction. In MG, these antibodies bind to the postsynaptic muscle end-plate and attack and destroy postsynaptic molecules. This process leads to impaired signal transduction and, consequently, muscle weakness and fatigability — the hallmark symptoms of MG. The weakness can be focal or generalized, and usually affects ocular, bulbar and proximal extremity muscles. Respiratory muscle weakness develops only rarely, but can be life-threatening. Weakness is typically symmetrical, except in affected external eye muscles, in which the weakness is usually asymmetrical.

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Neuromuscular junction in myasthenia gravis (MG)

Source: NatureReviewsNeurolog

Seeking novel drug targets for Autism

Genetic discoveries have invigorated autism research and raised the possibility of finding drug targets based on autism’s underlying pathophysiology, rather than merely treating symptoms.

An experimental group of drugs works wonders in a mouse-model of fragile X syndrome, the most common single-gene cause of autism. The drugs, which calm overactive metabotropic glutamate receptors (mGluRs) in the brain, restore social sniffing behaviour to normal levels, boost learning and memory, and reduce seizures related to the syndrome. Yet despite being the most promising new strategy for treating autism, these drugs are floundering once they reach human subjects.

The obscurity of the causes of autism means that doctors have little to offer the one in 100 people affected worldwide. Intensive behavioural therapies help some, but current medicines are limited to two drugs, risperidone and aripiprazole, used to treat aggression and irritability.

Read more: Seeking novel drug targets for Autism

An electroencephalogram measures brain connectivity, which, when combined with other measures,
may help delineate people with autism into subgroups with their own distinct biology

Source: SciencePhotoLibrary

Pineal Gland Detox: Spiritual, Mental and Physical Well-being

A tiny gland in the center of the brain named the pineal may seem insignificant, but researchers have found it to be vital for physical, mental and, many believe, spiritual health. Through poor diet, exposure to toxins, stress and modern lifestyle choices, the pineal gland becomes hardened, calcified and shuts down. To awaken this gland from its slumber, detoxification is necessary using diet and herbs, sunlight and pure water.

An important pea-sized gland

Pinecone shaped, the size of a pea and resting in the center of the brain, the pineal gland is small but powerful. It secretes melatonin, which regulates sleep/wake cycles, and serotonin, a neurotransmitter that fosters happy and balanced states of mind. Not only crucial for a good night’s rest, melatonin also slows aging and is a potent antioxidant. It helps to protect against electromagnetic pollution as well. Moreover, individuals have reported heightened feelings of empathy while supplementing with melatonin — leading to more harmonious interpersonal relationships.

Scientists suspect that N, N-dimethyltryptamine (DMT) is also produced by the pineal gland. This is the substance that gives shamanic botanicals like Psychotria viridis its hallucinatory kick. Dr. Rick Strassman, author of DMT, The Spirit Molecule, believes that the pineal gland produces DMT during mystical experiences as well as at birth and death. DMT is also associated with lucid dreaming,peak experiences, creativity and the ability to visualize.

Read more: Pineal Gland Detox: Spiritual, Mental and Physical Well-being

Source: WakeupWorld

Recent Progress in Genome Editing

Researchers develop a CRISPR-based technique that efficiently corrects point mutations without cleaving DNA.

Most genetic diseases in humans are caused by point mutations—single base errors in the DNA sequence. However, current genome-editing methods cannot efficiently correct these mutations in cells, and often cause random nucleotide insertions or deletions (indels) as a byproduct. Now, researchers at Harvard University have modified CRISPR/Cas9 technology to get around these problems, creating a new “base editor,” described today (April 20) in Nature, which permanently and efficiently converts cytosine (C) to uracil (U) bases with low error in human and mouse cell lines.

“There are a lot of genetic diseases where you would want, in essence, to swap bases in and out,” said Jacob Corn, scientific director of the Innovative Genomics Initiative at the University of California, Berkeley, who was not involved in the research. “Trying to get this to work is one of the big challenges in the field, and I think this is a really exciting approach.”

Read more: Recent Progress in Genome Editing

Illustration of DNA ligase, one of the cell proteins involved in repairing double-strand breaks in
DNAWIKIMEDIA; WASHINGTON UNIVERSITY SCHOOL OF MEDICINE IN ST. LOUIS

Source: wikimedia

Latest progress in diagnosis and treatment of Sarcomas

What are sarcomas?

Sarcomas are rare tumours of connective tissue, and as a result they can affect any part of the body. These are tumours of fat, nerves, bone, tendons, muscle and skin. They account for about 1% of all adult cancers and approximately 15% of pediatric tumours. In addition to the wide distribution of potential primary sites and the rarity, these are also very heterogeneous tumours with over 80 different histological subtypes.

These 3 factors make sarcomas extremely challenging to treat. Consequently, it is very important that sarcoma patients are managed by an experienced multi-disciplinary team, including surgeons, pathologists, radiologists, oncologists, specialist nurses, physiotherapists and pharmacists.

Diagnosis

In order to make the diagnosis a biopsy is required to confirm the presence of a sarcoma and the specific subtype. Because these tumours are so rare and heterogeneous it is essential that an experienced pathologist reviews the biopsy sample. Initial diagnostic radiology tests can include a CT and MRI scan depending on the location and type of sarcoma.

Treatment

The mainstay of treatment of localized sarcomas includes complete surgical removal with or without radiation. It is important that an experienced surgeon performs surgery as improperly performed surgery can have an impact on outcome.

Read more: Latest progress in diagnosis and treatment of Sarcomas

A sarcoma is a cancer. Sarcoma - malignant tumors made of cancellous bone, cartilage,

fat, muscle, vascular, and tissues.

Source: Designua/Shutterstock

Loneliness, Isolation Enhance CHD and Stroke Risk

YORK, UK — Although past research has shown a link between impaired social relationships and premature mortality, a new meta-analysis suggests there may also be a significant association with increased risk for coronary heart disease (CHD) and stroke.

The review of 23 papers and 181,006 total patients showed a 29% increased risk for incident CHD for those who had poor social connections, shown through loneliness and social isolation measurements, compared with those with better connections. The lonely and isolated patients also had a 32% increased risk for stroke.

The investigators, led by Dr Nicole K Valtorta (University of York, UK), note that loneliness often contributes to impaired coping methods, isolation affects self-efficacy, and both have been associated with decreased physical activity and increased smoking.

They add that future studies are needed to assess whether targeting these social characteristics "can help to prevent two of the leading causes of death and disability in high-income countries." But for now, "health practitioners have an important role to play in acknowledging the importance of social relations to their patients."

Read more: Loneliness, Isolation Enhance CHD and Stroke Risk

Source: trinesty

A Clinical Review on Vitamin D in Schizophrenia

Vitamin D (vitD) is known for its essential role in calcium homeostasis and bone health. VitD is made endogenously in the skin from UVB radiation from sunlight. VitD is now considered as a potent neurosteroid hormone, critical to brain development and normal brain function, and is known for its anti-inflammatory property affecting various aspects of human health. VitD ligand-receptor, a receptor that mediates much of vitD's biological actions, has been found throughout the body including the central nervous system. VitD deficiency is common in patients with severe mental illness such as schizophrenia. Schizophrenia is a debilitating chronic mental illness characterised by positive symptoms, such as hallucinations and delusions, and negative symptoms including flat affect and lack of motivation. Several environmental risk factors for schizophrenia, such as season of birth, latitude and migration, have been linked to vitD deficiency. Recent studies have suggested a potential role of vitD in the development of schizophrenia. For example, neonatal vitD status is associated with the risk of developing schizophrenia in later life obesity, insulin resistance, diabetes, hyperlipidaemia and cardiovascular disease, which are commonly seen in patients with schizophrenia. It has been well established that vitD deficiency is related to these metabolic problems. The biological mechanism is most likely related to vitD's action on the regulation of inflammatory and immunological processes, consequently affecting the manifestation of clinical symptoms and treatment response of schizophrenia. Potential benefits of vitD supplementation to improve schizophrenia symptoms as well as physical health in patients with schizophrenia should be further explored in future studies.

Introduction

Vitamin D (vitD), the 'sunshine' vitamin, is widely known for its essential role in calcium absorption and bone health. VitD is created in mammals after the epidermis comes into contact with UVB light. UVB radiation catalyses the conversion of 7-dehydrocholesterol to previtamin D3 in the skin, which is then quickly converted into vitamin D3 (cholecalciferol) by the body. 25-hydroxyvitamin D [25(OH)D], the main circulating form of vitD, is used by clinicians to measure vitD levels in the body. VitD is also obtained through dietary sources. Fatty fish, fungus and eggs naturally contain high levels of vitD. In many countries, cereal, milk and other everyday foods are fortified with vitD. VitD is also readily available as a dietary pill. However, since most individuals lack the necessary amount of exposure to UVB light and do not consume enough dietary vitD, vitD deficiency has become a global pandemic. While vitD has long been associated with bone health and related diseases, research in the past decade has uncovered its widespread effects on other aspects of the human body. Studies have identified links between vitD and a multitude of conditions including various cancers, autoimmune diseases, cardiovascular diseases, infectious diseases and mental disorders.

Studies have unveiled the presence of vitD, vitD receptors (VDR) and related enzymes (CYP 27B1, CYP 24A1) in various regions of the brain, leading researchers to establish vitD as a neuroactive/neurosteroid hormone critical to brain development and normal brain function. Furthermore, VitD's possible role in depression has led researchers to explore its potential benefits in other mental illnesses.

Schizophrenia is a severe and debilitating mental illness characterized by chronic positive (hallucinations, delusions) and negative symptoms (lack of motivation, speech issues).

Read more: A Clinical Review on Vitamin D in Schizophrenia

Source: naturalhealth365/sbxsupplements