Category Archives: Genetic medicine

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On March 29, 2012, Oracle announced that it has agreed to acquire ClearTrial, a leading provider of cloud-based Clinical Trial Operations and analytics products that make the planning, sourcing, and tracking of clinical projects and financial performance…

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Dr. Derek So and Dr. Jason Roberts. (CNW Group/OTTAWA HEART INSTITUTE, UNIVERSITY OF OTTAWA)

OTTAWA, March 29, 2012 /CNW/ - Developed in Canada and conducted by researchers from the University of Ottawa Heart Institute (UOHI), in partnership with Spartan Bioscience, the world's first bedside genetic test has received acknowledgment by The Lancet, the world's leading general medical journal.

The article Point-of-care genetic testing for personalisation of antiplatelet treatment (RAPID GENE): a prospective, randomised, proof-of-concept trial, reports on the use of a simple cheek swab test, the Spartan RX CYP2C19, performed by nurses at the patient's bedside. This revolutionary technology allows doctors to rapidly identify patients with a genetic variant known as CYP2C19*2. Cardiac stent patients with this variant are at risk of reacting poorly to standard anti-platelet therapy with Plavix (clopidogrel).

The study demonstrated that tailored drug treatment therapy made possible by the genetic testing successfully protected all of the patients with the at-risk genetic variant from subsequent adverse events, while 30 per cent of patients treated with standard therapy did not receive adequate protection.

"For the first time in medicine, nurses were able to perform DNA testing at the patient's bedside. This is a significant step towards the vision of personalized medicine," said Dr. Derek So, Interventional Cardiologist at the University of Ottawa Heart Institute (UOHI), and principal investigator of the RAPID GENE study.

Study Details The RAPID GENE study enrolled 200 patients who were being treated with cardiac stenting for an acute coronary syndrome or stable angina. Patients were randomized to a treatment strategy of rapid point-of-care genotyping and Effient (prasugrel) for CYP2C19*2 carriers, or to standard therapy with Plavix (clopidogrel). The Spartan RX CYP2C19 bedside DNA test was performed by nurses who received a 30-minute training session, but had no prior laboratory training. The test had a sensitivity of 100% and a specificity of 99.4% compared with DNA sequencing. For CYP2C19*2 carriers, treatment with prasugrel completely eliminated High on-treatment Platelet Reactivity (HPR). HPR is a marker for patients at risk of complications after stenting. In contrast, 30.4% of carriers receiving clopidogrel had HPR at 1 week.

About UOHI As Canada's largest and foremost cardiovascular health centre, the University of Ottawa Heart Institute is dedicated to understanding, treating, and preventing heart disease. We deliver high-tech care with a personal touch, shape the way cardiovascular medicine is practiced, and revolutionize cardiac treatment and understanding. We build knowledge through research and translate discoveries into advanced care. We serve the local, national, and international communities as we pioneer a new era in heart health.

Image with caption: "Dr. Derek So and Dr. Jason Roberts. (CNW Group/OTTAWA HEART INSTITUTE, UNIVERSITY OF OTTAWA)". Image available at: http://photos.newswire.ca/images/download/20120329_C8698_PHOTO_EN_11670.jpg

INFORMATION AND INTERVIEWS Vincent Lamontagne Senior Manager Public Affairs University of Ottawa Heart Institute 613-761-4427 613-899-6760 (cell) vlamontagne@ottawaheart.ca

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World's first bedside genetic test gets green light by prestigious medical publication

WEDNESDAY, March 21 (HealthDay News) -- Men worried about encroaching baldness, take heart: A genetic analysis of tissue taken from both bald and hairier spots on men's scalps has identified a protein involved in male pattern hair loss.

The researchers note that drugs that inhibit the protein are already in development, and it's possible those drugs could one day be used to help men preserve their head of hair.

In the study, researchers from the Perelman School of Medicine at the University of Pennsylvania did an analysis of more than 25,000 genes and honed in on one that produces an enzyme that produces a protein known as PGD2. That protein is present in much higher levels in bald spots.

When scientists placed PGD2 on hair follicles in a petri dish, they found the protein inhibited hair growth.

Researchers then tested the protein on mice genetically engineered to lack a receptor for PGD2, and found that hair growth was unaffected. But when PGD2 was applied to mice that have a different receptor (GPR44), the mice grew less hair.

PGD2 is a type of prostaglandin, or a hormone-like substance known to be involved in many body functions, including regulating the contraction and relaxation of smooth muscle tissue. Drugs that inhibit PGD2, for example, are being studied for use in preventing airway constriction in asthma.

"Several companies have compounds in development that block the receptor for PGD2. Those compounds are being studied to treat asthma," said senior study author Dr. George Cotsarelis, chair and professor of dermatology at University of Pennsylvania School of Medicine in Philadelphia. "We think using these compounds topically . . . could slow down and possibly reverse baldness."

The study is published in the March 21 issue of the journal Science Translational Medicine.

About 80 percent of white men have some degree of hair loss before age 70, according to background information in the study. In balding men, hair follicles don't disappear, but they shrink and produce very small, even microscopic hairs, Cotsarelis explained.

The belief is that something is inhibiting the follicle from growing a normal hair. One of those factors seems to be PGD2, which was found near stem cells in the follicle, which are important in hair growth, Cotsarelis explained.

Original post:
Research Spots Potential New Target in Fight Against Baldness

Public release date: 18-Mar-2012 [ | E-mail | Share ]

Contact: Mary Jane Gore mary.gore@duke.edu 919-660-1309 Duke University Medical Center

DURHAM, N.C., AND SINGAPORE A multi-national research team led by scientists at Duke-NUS Graduate Medical School has identified the reason why some patients fail to respond to some of the most successful cancer drugs.

Tyrosine kinase inhibitor drugs (TKIs) work effectively in most patients to fight certain blood cell cancers, such as chronic myelogenous leukemia (CML), and non-small-cell lung cancers (NSCLC) with mutations in the EGFR gene.

These precisely targeted drugs shut down molecular pathways that keep these cancers flourishing and include TKIs for treating CML, and the form of NSCLC with EGFR genetic mutations.

Now the team at Duke-NUS Graduate Medical School in Singapore, working with the Genome Institute of Singapore (GIS), Singapore General Hospital and the National Cancer Centre Singapore, has discovered that there is a common variation in the BIM gene in people of East Asian descent that contributes to some patients' failure to benefit from these tyrosine kinase inhibitor drugs.

"Because we could determine in cells how the BIM gene variant caused TKI resistance, we were able to devise a strategy to overcome it," said S. Tiong Ong, M.B.B. Ch., senior author of the study and associate professor in the Cancer and Stem Cell Biology Signature Research Programme at Duke-NUS and Division of Medical Oncology, Department of Medicine, at Duke University Medical Center.

"A novel class of drugs called the BH3-mimetics provided the answer," Ong said. "When the BH3 drugs were added to the TKI therapy in experiments conducted on cancer cells with the BIM gene variant, we were able to overcome the resistance conferred by the gene. Our next step will be to bring this to clinical trials with patients."

Said Yijun Ruan, Ph.D., a co-senior author of this study and associate director for Genome Technology and Biology at GIS: "We used a genome-wide sequencing approach to specifically look for structural changes in the DNA of patient samples. This helped in the discovery of the East Asian BIM gene variant. What's more gratifying is that this collaboration validates the use of basic genomic technology to make clinically important discoveries."

The study was published online in Nature Medicine on March 18.

The rest is here:
Genetic variation in East Asians found to explain resistance to cancer drugs

During one such visit a senior executive noticed that two of my colleagues, sitting next to each other, supported their system (two different implementations of the same software) across two different geographies. They happened to have the name of the systems they support, pinned to a board at their desks. The executive wanted us to take a picture of the two cubicles and email to him. We were quite surprised at the request. Before moving on to speak to other people he asked a couple of questions and realized the guys were sharing each other’s experiences and leveraging the lessons learnt from one deployment for the other geography.  It turned out that this does not happen in their organization, in fact their internal teams hardly communicate as they are part of different business units and geographies

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During one such visit a senior executive noticed that two of my colleagues, sitting next to each other, supported their system (two different implementations of the same software) across two different geographies. They happened to have the name of the systems they support, pinned to a board at their desks. The executive wanted us to take a picture of the two cubicles and email to him. We were quite surprised at the request. Before moving on to speak to other people he asked a couple of questions and realized the guys were sharing each other’s experiences and leveraging the lessons learnt from one deployment for the other geography.  It turned out that this does not happen in their organization, in fact their internal teams hardly communicate as they are part of different business units and geographies

Read full article on at inPharmatics

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ScienceDaily (Mar. 8, 2012) UT Southwestern Medical Center investigators have identified a genetic manipulation that increases the development of neurons in the brain during aging and enhances the effect of antidepressant drugs.

The research finds that deleting the Nf1 gene in mice results in long-lasting improvements in neurogenesis, which in turn makes those in the test group more sensitive to the effects of antidepressants.

"The significant implication of this work is that enhancing neurogenesis sensitizes mice to antidepressants -- meaning they needed lower doses of the drugs to affect 'mood' -- and also appears to have anti-depressive and anti-anxiety effects of its own that continue over time," said Dr. Luis Parada, director of the Kent Waldrep Center for Basic Research on Nerve Growth and Regeneration and senior author of the study published in The Journal of Neuroscience.

Just as in people, mice produce new neurons throughout adulthood, although the rate declines with age and stress, said Dr. Parada, chairman of developmental biology at UT Southwestern. Studies have shown that learning, exercise, electroconvulsive therapy and some antidepressants can increase neurogenesis. The steps in the process are well known but the cellular mechanisms behind those steps are not.

"In neurogenesis, stem cells in the brain's hippocampus give rise to neuronal precursor cells that eventually become young neurons, which continue on to become full-fledged neurons that integrate into the brain's synapses," said Dr. Parada, an elected member of the National Academy of Sciences, its Institute of Medicine, and the American Academy of Arts and Sciences.

The researchers used a sophisticated process to delete the gene that codes for the Nf1 protein only in the brains of mice, while production in other tissues continued normally. After showing that mice lacking Nf1 protein in the brain had greater neurogenesis than controls, the researchers administered behavioral tests designed to mimic situations that would spark a subdued mood or anxiety, such as observing grooming behavior in response to a small splash of sugar water.

The researchers found that the test group mice formed more neurons over time compared to controls, and that young mice lacking the Nf1 protein required much lower amounts of anti-depressants to counteract the effects of stress. Behavioral differences between the groups persisted at three months, six months and nine months. "Older mice lacking the protein responded as if they had been taking antidepressants all their lives," said Dr. Parada.

"In summary, this work suggests that activating neural precursor cells could directly improve depression- and anxiety-like behaviors, and it provides a proof-of-principle regarding the feasibility of regulating behavior via direct manipulation of adult neurogenesis," Dr. Parada said.

Dr. Parada's laboratory has published a series of studies that link the Nf1 gene -- best known for mutations that cause tumors to grow around nerves -- to wide-ranging effects in several major tissues. For instance, in one study researchers identified ways that the body's immune system promotes the growth of tumors, and in another study, they described how loss of the Nf1 protein in the circulatory system leads to hypertension and congenital heart disease.

The current study's lead author is former graduate student Dr. Yun Li, now a postdoctoral researcher at the Massachusetts Institute of Technology. Other co-authors include Yanjiao Li, a research associate of developmental biology, Dr. Rene McKay, assistant professor of developmental biology, both of UT Southwestern, and Dr. Dieter Riethmacher of the University of Southampton in the United Kingdom.

Continued here:
Genetic manipulation boosts growth of brain cells linked to learning, enhances effects of antidepressants

The New Medicine Service (NMS) offered by Engalnd’s  NHS community pharmacies came into effect since 1st October 2011. NMS is a patient adherene service and focuses on patients with long term conditions that have been prescribed new medicines.

It is hoped that NMS will lead to the following outcomes:

• improve medicines adherence
• increase patient engagement with their condition and medicines, which will support them in making decisions about their treatment and self management
• reduce medicines wastage
• reduce hospital admissions due to adverse events associated with medicines
• increase reporting of medicine adverse reactions by pharmacists and patients
• positive patient assessments
• provide evidence base on the effectiveness of the service
• enable the development of outcome and/or quality measures for community pharmacy

But the Service since launch has seen severe criticism from pharmacists’ over several issues, especially how the pharmacist is re-imbursed for the providing the service which also involved patient counselling.

The answer perhaps can be found by applying predictive analytics to identify patients who are more likely to deviate or other likely to exhibit non-compliance in adhering to the prescription.

Express Scripts has developed a set of proprietary computer models that predict, up to a year in advance, which patients are at risk of not following through on their prescribed drug therapy. details

FICO an analytics service provider also provides medication adherence ranking based on predictive analytics details

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The New Medicine Service (NMS) offered by Engalnd’s  NHS community pharmacies came into effect since 1st October 2011. NMS is a patient adherene service and focuses on patients with long term conditions that have been prescribed new medicines.

It is hoped that NMS will lead to the following outcomes:

• improve medicines adherence
• increase patient engagement with their condition and medicines, which will support them in making decisions about their treatment and self management
• reduce medicines wastage
• reduce hospital admissions due to adverse events associated with medicines
• increase reporting of medicine adverse reactions by pharmacists and patients
• positive patient assessments
• provide evidence base on the effectiveness of the service
• enable the development of outcome and/or quality measures for community pharmacy

But the Service since launch has seen severe criticism from pharmacists’ over several issues, especially how the pharmacist is re-imbursed for the providing the service which also involved patient counselling.

The answer perhaps can be found by applying predictive analytics to identify patients who are more likely to deviate or other likely to exhibit non-compliance in adhering to the prescription.

Express Scripts has developed a set of proprietary computer models that predict, up to a year in advance, which patients are at risk of not following through on their prescribed drug therapy. details

FICO an analytics service provider also provides medication adherence ranking based on predictive analytics details

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http://microarray.wordpress.com/feed/

Source: Data Sneak Peek: Groups Involved in Patient Adherence Teams

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