Monthly Archives: March 2014

Study pinpoints protective mutations for type 2 diabetes

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PUBLIC RELEASE DATE:

2-Mar-2014

Contact: Haley Bridger hbridger@broadinstitute.org Broad Institute of MIT and Harvard

An international team led by researchers at the Broad Institute and Massachusetts General Hospital (MGH) has identified mutations in a gene that can reduce the risk of developing type 2 diabetes, even in people who have risk factors such as obesity and old age. The results focus the search for developing novel therapeutic strategies for type 2 diabetes; if a drug can be developed that mimics the protective effect of these mutations, it could open up new ways of preventing this devastating disease.

Type 2 diabetes affects over 300 million people worldwide and is rising rapidly in prevalence. Lifestyle changes and existing medicines slow the progression of the disease, but many patients are inadequately served by current treatments. The first step to developing a new therapy is discovering and validating a "drug target" a human protein that, if activated or inhibited, results in prevention and treatment of the disease.

The current study breaks new ground in type 2 diabetes research and guides future therapeutic development in this disease. In the new study, researchers describe the genetic analysis of 150,000 patients showing that rare mutations in a gene called SLC30A8 reduce risk of type 2 diabetes by 65 percent. The results were seen in patients from multiple ethnic groups, suggesting that a drug that mimics the effect of these mutations might have broad utility around the globe. The protein encoded by SLC30A8 had previously been shown to play an important role in the insulin-secreting beta cells of the pancreas, and a common variant in that gene was known to slightly influence the risk of type 2 diabetes. However, it was previously unclear whether inhibiting or activating the protein would be the best strategy for reducing disease risk and how large an effect could be expected.

"This work underscores that human genetics is not just a tool for understanding biology: it can also powerfully inform drug discovery by addressing one of the most challenging and important questions knowing which targets to go after," said co-senior author David Altshuler, deputy director and chief academic officer at the Broad Institute and a Harvard Medical School professor at Massachusetts General Hospital.

The use of human genetics to identify protective mutations holds great potential. Mutations in a gene called CCR5 were found to protect against infection with HIV, the virus that causes AIDS; drugs have been developed that block the CCR5 protein. A similar protective association for heart disease set off a race to discover new cholesterol-lowering drugs when mutations in the gene PCSK9 were found to lower cholesterol levels and heart disease risk. The new type 2 diabetes study, which appears this week in Nature Genetics, suggests that CCR5 and PCSK9 are likely just the beginning but that it will take large numbers of samples and careful sleuthing to find additional genes with similar protective properties.

The Nature Genetics study grew out of a research partnership that started in 2009 involving the Broad Institute, Massachusetts General Hospital, Pfizer Inc., and Lund University Diabetes Centre in Sweden, which set out to find mutations that reduce a person's risk of type 2 diabetes. The research team selected people with severe risk factors for diabetes, such as advanced age and obesity, who never developed the disease and in fact had normal blood sugar levels. They focused on a set of genes previously identified as playing a role in type 2 diabetes and used next-generation sequencing (then a new technology) to search for rare mutations.

The team identified a genetic mutation that appeared to abolish function of the SLC30A8 gene and that was enriched in non-diabetic individuals studied in Sweden and Finland. The protection was surprising, because studies in mice had suggested that mutations in SLC30A8 might have the opposite effect increasing rather than decreasing risk of type 2 diabetes. However, because this particular genetic variation was exceedingly rare outside of Finland, it proved difficult to obtain additional evidence to corroborate the initial discovery by the Broad/MGH/Pfizer Inc./Lund team.

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Study pinpoints protective mutations for type 2 diabetes

Care Communications, Inc. Consultant Reviews Native ICD-10 Coding and the Impact on Data Testing and Analysis

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Chicago, IL (PRWEB) March 03, 2014

Native ICD-10 coding should be a prominent part of any ICD-10 implementation plan prior to the October 1, 2014 launch of the new coding classification system. Lisa Fink, a senior health information management (HIM) consultant at Care Communications, Inc. writes in a recent post on the Care Communications Blog that the testing and analysis of data is another important reason to natively code in ICD-10, and outlines important considerations for internal and external testing.

Read the full post, titled Native ICD-10-CM/PCS Coding Testing and Analysis by following this link: http://bit.ly/1fho7SZ.

About the Author

Lisa Fink, MBA, RHIA, CPHQ, has extensive experience in ICD-10 assessment and preparation, HIM, quality improvement and information technology. She has performed multiple ICD-10 engagements that include readiness assessments and implementation planning. She has also supported hospital coding functions and post "go live" system implementations through interim management.

About Care Communications, Inc.

Care Communications, Inc. is a nationally recognized leader in health information management and has served the needs of leading health care organizations since 1976. Care Communications offers the industrys most comprehensive suite of health information consulting and outsourcing services, including coding production, audits and education, ICD-10 transition, EHR data quality and integrity services, interim management, cancer registry, research services and leadership development. Care Communications has been a preferred health information management vendor for VHA/Novation since 2007 and has been an Elite Award winner as one of Chicagos 101 Best and Brightest Companies to Work For since 2008.

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Care Communications, Inc. Consultant Reviews Native ICD-10 Coding and the Impact on Data Testing and Analysis

Bringing compassion back to health care

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Stacey Chang talked with students and guests about health care Thursday evening in the UMFA auditorium. Photo by Brent Uberty.

Chang, an associate partner and director of IDEOs Health & Wellness practice, spoke in the Utah Museum of Fine Arts Thursday evening in his presentation Humanity in Health Care: Rediscovering our Roots. The presentation described how the intersection of design and health care can better the experience of people seeking medical attention.

If youre not pursuing a human need, there wont be success, he said.

He told the audience a story of a negative experience he had regarding health care and a doctor who did not seem to care or respect him. Chang said incidences such as this one happen when doctors lose sight of why they are doctors. He said they get the creativity knocked out of them.

Taylor Lybbert, a graduate student in business administration and public relations, said changes need to be made in health care to empower patients. That is Changs purpose in IDEO. He said health care is complex, but when breaking it down there are only two parts involved: people needing care and people giving care. Over time, he said, the human component of medical care has vanished, turning the practice into a business.

In returning humanity to health care we have the opportunity to solve some of the problems that we face, Chang said.

IDEO aims to resolve the multi-faceted problems of patient care by reintroducing a human element into health visits. For instance, Chang said some patients feel they do not have a compassionate and effective recovery. In order to solve this problem IDEO came up with the Journey Home Board, enabling nurses to talk one-on-one with post-delivery mothers about their recovery process.

The reason its really valuable is the nurses can go in the room and actually talk to the patients, Chang said.

Their returning veterans project focused on building homes accessible to returning veterans who were injured in war. Previous homes for veterans were designed like institutions, Chang said. IDEO incorporated health elements, like handlebars, into the design of the furniture to assist disabled veterans without looking like a doctors office.

Adam Vaughn, a graduate student in international affairs and global enterprise, said the country hit its peak and is now becoming too relaxed with health care.

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Bringing compassion back to health care

This month's big health-care deadline: What you need to know

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This March 1, 2014, photo shows part of the website for HealthCare.gov as photographed in Washington. Sick of hearing about the health care law? Plenty of people have tuned out after all the political jabber and website woes. Now is the time to tune back in, before it s too late. The big deadline is coming March 31. (AP Photo/Jon Elswick)

WASHINGTON (AP) - Sick of hearing about the health care law?

Plenty of people have tuned out after all the political jabber and website woes.

But now is the time to tune back in, before it's too late.

The big deadline is coming March 31.

By that day, for the first time, nearly everyone in the United States is required to be signed up for health insurance or risk paying a fine.

Here's what you need to know about this month's open enrollment countdown:

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ALREADY COVERED? NO WORRIES

Most people don't need to do anything. Even before the health care law passed in 2010, more than 8 out of 10 U.S. residents had coverage, usually through their workplace plans or the government's Medicare or Medicaid programs. Some have private policies that meet the law's requirements.

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This month's big health-care deadline: What you need to know