Identification of genetic mutations involved in human blood diseases

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28-Apr-2014

Contact: Anne-Julie Ouellet anne-julie.ouellet@icm-mhi.org 514-376-3330 x2700 Montreal Heart Institute

A study published today in Nature Genetics has revealed mutations that could have a major impact on the future diagnosis and treatment of many human diseases. Through an international collaboration, researchers at the Montreal Heart Institute (MHI) were able to identify a dozen mutations in the human genome that are involved in significant changes in complete blood counts and that explain the onset of sometimes severe biological disorders.

The number of red and white blood cells and platelets in the blood is an important clinical marker, as it helps doctors detect many hematological diseases and other diseases. Doctors can also monitor this marker to determine the effectiveness of therapy for certain pathologies.

"Complete blood counts are a complex human trait, as the number of cells in the blood is controlled by our environment and the combined expression of many genes in our DNA," explained Dr. Guillaume Lettre, a study co-author, an MHI researcher, and an Associate Professor at the Faculty of Medicine at Universit de Montral.

In collaboration with their colleagues at the University of Washington in Seattle and the University of Greifswald in Germany, these MHI researchers analyzed the DNA of 6,796 people who donated specimens to the MHI Biobank by looking specifically at segments of DNA directly involved in protein function in the body. They specifically identified a significant mutation in the gene that encodes erythropoietin, a hormone that controls the production of red blood cells. "Subjects who carry this mutation in their DNA have reduced hemoglobin levels and a 70% greater chance of developing anemia," explained Dr. Lettre. The scientists also identified a mutation in the JAK2 gene, which is responsible for a 50% increase in platelet counts and, in certain cases, for the onset of bone marrow diseases that can lead to leukemia. Dr. Jean-Claude Tardif, Director of the MHI Research Centre, Full Professor at the Faculty of Medicine at Universit de Montral, and a study co-author, added that "after reviewing pre-existing clinical data from the MHI Biobank, we observed that these donors also had a higher risk of having a stroke during their lifetime."

Dr. Lettre believes that these findings are very encouraging, as they suggest that the experimental approach used in the study can be applied to other human diseases. "Thanks to the existing genetic data and wealth of other clinical information available from the MHI Biobank, we will be able to identify other rare genetic variations that may impact the risk of cardiovascular disease and open the door to the development of new therapies."

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About the MHI Biobank: https://www.icm-mhi.org/en/research/infrastructures-services/mhis-hospital-biobank

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Identification of genetic mutations involved in human blood diseases

U.S. Health Care Conference To Spotlight Cross-Sector Hot Topics And Industry Trends – Video

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U.S. Health Care Conference To Spotlight Cross-Sector Hot Topics And Industry Trends
In this CreditMatters TV segment, Standard Poor #39;s Managing Director Martin Arrick, Senior Director Joe Marinucci, and Director David Peknay provide an over...

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U.S. Health Care Conference To Spotlight Cross-Sector Hot Topics And Industry Trends - Video

How has tech and wearables effected the health industry? With Yasmine Winkler, UnitedHealthcare – Video

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How has tech and wearables effected the health industry? With Yasmine Winkler, UnitedHealthcare
UnitedHealthcare #39;s Yasmine Winkler sits down to discuss wearables, innovation, the electronic health record and integration in the health care delivery industry with Tuck School of Business...

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Weekly Q&A: Vegan at Parties, Gluten-Free Health, MSG, Smoking & More! – Video

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Weekly Q A: Vegan at Parties, Gluten-Free Health, MSG, Smoking More!
Product Links and TimeStamps (skip forward to a section) below* - Didn #39;t get your question answered? Ask it in this link and I #39;ll answer in an upcoming Q A video, happening live every week!...

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Weekly Q&A: Vegan at Parties, Gluten-Free Health, MSG, Smoking & More! - Video

Repairing the World: A Conversation with Paul Farmer – Video

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Repairing the World: A Conversation with Paul Farmer
Visit: http://www.uctv.tv/) Known as "the man who would cure the world," Paul Farmer works to provide first world health care for third world peoples and co-founded the worldwide organization...

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Health Care Information Technology: A Danger to Physicians and to Your Health

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The causes of the crapification are legion, but one that is having a bigger impact on health care than is widely recognized is bad information technology implementation. And I dont mean the healthcare.gov website.

In case you missed it, the Federal government is in the midst of a $1 trillion experiment to promote (as in force) the use of Electronic Health Care records, or EHRs. Astonishingly, this program has been launched with no evidence to support the idea that rendering records in electronic form will save patient lives. From a Freedom of Information Act filing by the American Association for Physicians and Surgeons got this response, which was reprinted in their April newsletter (emphasis ours):

The American Recovery and Reinvestment Act of 2009 (ARRA) created the Medicare and Medicaid Electronic Health Record (EHR) Incentive Programs. While our Office of E-Health Standards and Services works to implement the provisions of the ARRA, we do not have any information that supports or refutes claims that a broader adoption of EHRs can save lives.

Now of course, one might argue based on intuition that surely electronic data would help patient care. Think of all those illegible doctor scrawls that get misread from time to time. But you need to weigh those errors against those of bad data entry, difficult to read file formats, difficulty in converting records to electronic form, and greater risk of loss of patient data (hard disk crashes and faulty backups).

In fact, Ive seen good health care information technology in action. When I lived in Sydney in 2002 to 2004, every doctor I saw had a little black flat panel screen in their office or examination room, and most would enter data during the session. The doctors I saw were in solo or small practices. Their fee levels (assuming a dollar for dollar exchange rate, which was not the case at the time) were 25% to 35% of New York City rates for comparable services. That suggests that the use of IT wasnt a costly addition to their practice overheads.

But could the US adopt the sensible course, which would be to look for successful health care information technology implementations overseas and learn from them? No way. As Informatics MD notes at the Health Care Renewal blog (emphasis ours):

I know from personal development and implementation experience that when done well, that is, when good health IT and good implementation practices are offered and with patient safety as a priority, health IT can save lives and improve care. Its just that the commercial for-profit health IT sector does not meet those expectations, due largely to its leadership model from the merchant-computing culture. Instead, bad health IT is the norm.

Well get to the lousy patient outcomes part in due course. But I wanted to focus on a less obvious but no less significant element of this health care information technology push: that it is accelerating the death of solo practices. Mind you, this was already well underway, as reader Juneau noted in our recent post on corporatized medicine:

Going from working for a large corporate healthcare entity to working alone, I have seen insurance rates cut by 40 percent simply for going from group to solo status. Those who can afford to do it right (maybe those without kids or a mortgage or 3 divorces to pay for) feel like dopes. Colleagues who put themselves first survive. Those who made sacrifices, provide free care to indigent patients, accept insurance, etc..are now the low tier low status docs who work 60 plus hours to make overhead and stay afloat.

This article from UTSanDiego explains the impact of the health care information technology requirements from the doctor perspective:

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Health Care Information Technology: A Danger to Physicians and to Your Health

Health Care Costs Can Decrease with Employee Financial Education According to FSFE.com

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St. Louis, MO (PRWEB) April 29, 2014

According to financial wellness firm, Four Seasons Financial Education (FSFE), employers may be able to decrease health care costs by way of financial wellness programs. As employers target employee health issues such as heart disease, anxiety and high blood pressure to decrease costs, stress may be to blame for some, if not all, of these expensive illnesses.

A 2013 article by the Mayo Clinic cites that the long-term activation of the stress-response system can increase the risk of heart disease, anxiety, depression, sleep problems, memory issues and even weight gain*. This stress comes from numerous sources, but money appears to top the list. In a 2013 stress survey by the American Psychological Association, money was found to be the number one cause of stress for Americans, cited by 70% of all respondents**.

"Companies are finally seeing the link between financial health and physical health," says FSFE President, Travis Freeman. "Employers trying to curb health care costs can't ignore the financial impact of an employee's health."

Further studies show health care costs can be as much as ten times more for employees with chronic health issues as compared to those with none. Blue Cross Blue Shield Michigan cited average costs per year for patients with no chronic health issues at $2,788. Patients with one chronic health issue over doubled to $6,573 per year. For those with three or more issues, the costs increased to $27,763`.

*Chronic Stress Puts Your Health at Risk, July 11, 2013. http://tinyurl.com/mz6xo3p **Stress in America survey, 2013. http://tinyurl.com/mky8ahk `Health Care Cost Drivers: Chronic Disease, Comorbidity, and Health Risk Factors in the U.S. and Michigan. Center for Healthcare Research and Transformation. August 3, 2010. http://tinyurl.com/mvkok94

About Four Seasons Financial Education Four Seasons Financial Education provides workplace financial wellness and education services to companies throughout the US in an effort to improve their bottom line. We take a strictly academic approach to financial education and focus on the core areas of personal finance, thereby seeking to increase employee productivity and organizational performance. Securities and advisory services offered through LPL Financial, a Registered Investment Advisor. Member FINRA/SIPC

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Brigham and Womens Hospital to back health startups

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Four health care technology startups won the opportunity to pilot their products at Brigham and Womens Hospital after wowing experts at the Brigham Innovation Hubs first-ever shark tank competition last night.

Twine Health, a Cambridge-based company that makes software for managing hypertension and other chronic diseases, drew the most interest from the medical sharks. Twine CEO John Moore ultimately chose to team up with Dr. Stuart Pollack, who will test the technology at Brighams Advanced Primary Care Associates.

This is a whole way to access a group of diabetics and hypertensives who are not in control, Pollack told the Herald. Youve got to make it easy (for patients) to interact in a way thats more comfortable for them.

Of the 10 companies competing, four gained new mentors and six failed to impress the sharks. Healo, maker of a mobile product that allows doctors to remotely monitor patient wound care, got a last-minute partner in Pooja Devendran, Brighams executive director of surgical services.

The winning companies didnt receive any funding, but they will be able to test their products with Brigham patients this year. Nathan Ie of Healo called that prize better than money.

The validation is all in the evidence, especially in health care technology, Healo founder Gino Inverso added.

The other contestants to win pilots were MySafeCare, a mobile app for patients to report safety concerns while in the hospital, and Tenacity Health, a peer coaching program to help patients stay healthy.

Weve talked to a lot of people who have great ideas, but what we found is that one of the biggest challenges in moving ideas forward is actually the opportunity to pilot, said Lesley Solomon, strategy and innovation director at Brighams Biomedical Research Institute. What we wanted to do was give startups the opportunity to find a pilot partner Weve committed to piloting in 2014.

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Brigham and Womens Hospital to back health startups

Proove Biosciences Presented Research and Data on How Genetic Testing Can Improve Pain Medicine Selection and Dosing

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Irvine, CA (PRWEB) April 29, 2014

Proove Biosciences, the leader in Personalized Pain Medicine testing services, exhibited and presented clinical data on how proprietary genetic tests have been helping physicians improve patient pain treatment outcomes this weekend at The Valley Cancer Pain Foundations Third Annual Cancer Pain Conference. Proove is the only company exhibiting data on how company research and methods have been allowing doctors to utilize genetic analysis to make safer and more effective pain medication selection and dosing. At this weeks session, Proove Clinical Science Liaison, Derrick Holman, MD presented Proove research and provided medical education on the genetics of pain medicine.

As the only company presenting data on how genetic tests can improve the efficiency of pain medication and treatment, we were glad to participate in this weekends conference, stated Brian Meshkin, CEO and founder of Proove Biosciences. The Valley Cancer Pain Foundation does a wonderful job of providing an educational opportunity for pain clinicians, anesthesiologists, neurosurgeons, and hospice providers to learn about new technologies and best practices available in treating pain.

The annual conference is an industry gathering that aims to promote the most recent and relevant data and treatment options, and provide a forum to interact and discuss new and emerging evidence-based methods of improving access to and quality of care.

Proove continues to display industry leadership by publishing research showing how our unique genetic testing capabilities improve patient care. In the emerging field of pain medicine genetics, Proove is far outpacing other labs who continue to market run-of-the-mill drug metabolism genetic testing, stated Meshkin.

About Proove Biosciences Proove Biosciences is the leading Personalized Pain Medicine laboratory that provides proprietary genetic testing services to help physicians improve outcomes for patients and contain costs for insurers. With offices in Southern California and the Baltimore-Washington metropolitan area, the Company is the research leader investigating and publishing data on the genetics of pain medicine with clinical research sites across the United States. Physicians use Proove Biosciences testing to improve pain medicine selection, dosing, and evaluation of medications they prescribe. From a simple cheek swab collected in the office, Proove performs proprietary genetic tests in its CLIA-certified laboratory to identify patients at risk for misuse of prescription pain medications and evaluate their metabolism of medications. For more information, please visit http://www.proovebio.com or call toll free 855-PROOVE-BIO (855-776-6832).

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Proove Biosciences Presented Research and Data on How Genetic Testing Can Improve Pain Medicine Selection and Dosing

Genealogy and Biogeography Meet Personalized Medicine

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Newswise Biogeographical data is useful in screening for disease risk and drug sensitivity associated with certain ethnic groups. A team of researchers, including an investigator from Childrens Hospital Los Angeles, has developed a tool to accurately identify the biogeography of worldwide individuals. Previous tools were accurate in identifying place of origin within homogeneous European populations but highly inaccurate for places with significant immigration, such as the U.S.

Tatiana Tatarinova, PhD, of The Saban Research Institute of Childrens Hospital Los Angeles, Eran Elhaik, PhD, of the University of Sheffield and colleagues developed an admixture-based Geographic Population Structure (GPS) tool that uses genetic distribution and geographical distance to determine place of origin, specifically the country, or in some cases, the village of origin. Their study will be published in the journal Nature Communications on April 29, 2014.

We were surprised by the simplicity and precision of this method, said Tatarinova, who is also an associate professor of Research Pediatrics at the Keck School of Medicine of the University of Southern California. People in a given geographical area are more likely to have similar genetics. When they also have genetic traits typically found in other, distant regions, the geographical origin of those traits is generally the closest location where those traits can be found.

Using a database of worldwide populations, the investigators developed a dataset of reference populations that are genetically diverse and have been geographically localized for centuries. With the GPS tool, the investigators were able to take unknown samples, identify the proportions of admixture--meaning, genetic characteristics specific to certain ethnic groups that were combined because of events like migration or invasion--and then calculate the distance to the nearest known population that shares the same admixture signature, in order to identify place of origin.

GPS was found to be both sensitive and specific. For example, in admixed populations such as Kuwaitis, it identified the countries of origin (Saudi Arabia and Iran), not just their current location. In the case of Sardinians, it placed a quarter of them within their villages. We expect the incredible abilities of GPS to become useful in forensics, allowing us to help lost people find their way home, says Elhaik.

According to the researchers, in ethnically diverse regions like the U.S., where many people know only a few generations of their descendants, this kind of screening has important medical implications. Discovery of a certain genotype might indicate the potential for a genetic disease and suggest that diagnostic testing be done. Also, as scientists learn more about personalized medicine, there is evidence that specific genotypes respond differently to medicationsmaking this information potentially useful when selecting the most effective therapy and appropriate dosing. The investigators are currently designing a study to correlate pharmacokinetics, the time course of drug metabolism, with genotype.

Genetic diseases are not the only driving force behind the development of GPS, according to Tatarinova. With a growing interest in the field of genealogy, more and more individuals are seeking information on their ancestral roots. Tatarinova has developed the website http://www.prosapia.org to allow anyone who previously obtained a DNA genotype to use the GPS tool to find their country or even village of origin.

About Childrens Hospital Los Angeles Children's Hospital Los Angeles has been named the best childrens hospital in California and among the top five in the nation for clinical excellence with its selection to the prestigious US News & World Report Honor Roll. Childrens Hospital is home to The Saban Research Institute, one of the largest and most productive pediatric research facilities in the United States, is one of America's premier teaching hospitals and has been affiliated with the Keck School of Medicine of the University of Southern California since 1932.

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Genealogy and Biogeography Meet Personalized Medicine

Genetic mutations involved in human blood diseases identified

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A study published today in Nature Genetics has revealed mutations that could have a major impact on the future diagnosis and treatment of many human diseases. Through an international collaboration, researchers at the Montreal Heart Institute (MHI) were able to identify a dozen mutations in the human genome that are involved in significant changes in complete blood counts and that explain the onset of sometimes severe biological disorders.

The number of red and white blood cells and platelets in the blood is an important clinical marker, as it helps doctors detect many hematological diseases and other diseases. Doctors can also monitor this marker to determine the effectiveness of therapy for certain pathologies.

"Complete blood counts are a complex human trait, as the number of cells in the blood is controlled by our environment and the combined expression of many genes in our DNA," explained Dr. Guillaume Lettre, a study co-author, an MHI researcher, and an Associate Professor at the Faculty of Medicine at Universit de Montral.

In collaboration with their colleagues at the University of Washington in Seattle and the University of Greifswald in Germany, these MHI researchers analyzed the DNA of 6,796 people who donated specimens to the MHI Biobank by looking specifically at segments of DNA directly involved in protein function in the body. They specifically identified a significant mutation in the gene that encodes erythropoietin, a hormone that controls the production of red blood cells. "Subjects who carry this mutation in their DNA have reduced hemoglobin levels and a 70% greater chance of developing anemia," explained Dr. Lettre. The scientists also identified a mutation in the JAK2 gene, which is responsible for a 50% increase in platelet counts and, in certain cases, for the onset of bone marrow diseases that can lead to leukemia. Dr. Jean-Claude Tardif, Director of the MHI Research Centre, Full Professor at the Faculty of Medicine at Universit de Montral, and a study co-author, added that "after reviewing pre-existing clinical data from the MHI Biobank, we observed that these donors also had a higher risk of having a stroke during their lifetime."

Dr. Lettre believes that these findings are very encouraging, as they suggest that the experimental approach used in the study can be applied to other human diseases. "Thanks to the existing genetic data and wealth of other clinical information available from the MHI Biobank, we will be able to identify other rare genetic variations that may impact the risk of cardiovascular disease and open the door to the development of new therapies."

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The above story is based on materials provided by Montreal Heart Institute. Note: Materials may be edited for content and length.

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Genetic mutations involved in human blood diseases identified