Researchers find link between genetic variation and alcohol dependence

Posted on by

The discovery could help scientists develop more effective drugs to combat alcoholism

Virginia Commonwealth University School of Medicine researchers have discovered a biological clue that could help explain why some drinkers develop a dependence on alcohol and others do not.

The findings move researchers closer to identifying those at risk for addiction early and designing better drug treatments to help people stop drinking.

About 18 million people in the United States have an alcohol use disorder, according to National Institutes of Health statistics. The vast majority go untreated.

"There are few and inadequate pharmacological treatments to help people who want to stop drinking, because this is a terrifically difficult human genetics problem," said Jill C. Bettinger, Ph.D., associate professor in the Department of Pharmacology and Toxicology, VCU School of Medicine. "If we can better understand the molecular effects of alcohol, we can design more rational treatments and even warn people who are more susceptible to developing a dependence."

Bettinger is the senior author of a paper, "SWI/SNF Chromatin Remodeling Regulates Alcohol Response Behaviors in Caenorhabditis Elegans and is Associated With Alcohol Dependence in Humans," published Feb. 23 in the journal Proceedings of the National Academy of Sciences.

The paper describes how researchers examined the role of a protein complex -- called switching defective/sucrose nonfermenting (SWI/SNF) -- in determining the behavioral response of roundworms to alcohol.

Researchers watched through microscopes as the tiny worms became drunk on ethanol, studying how their initial sensitivity to the alcohol and tolerance changed based on which genes were expressed within the SWI/SNF complex.

Because humans and worms have a similar genetic makeup, Bettinger then turned to Brien P. Riley, Ph.D., associate professor in the Departments of Psychiatry and Human and Molecular Genetics at VCU School of Medicine and co-author of the recently published paper. Riley is director of the Molecular Genetics Lab at the Virginia Institute for Psychiatric and Behavioral Genetics, where researchers have been studying the human genome and its relationship to the risk of illness or other traits.

Riley found that naturally occurring genetic variations in the same SWI/SNF complex so crucial to a worm's tolerance were also associated with alcohol dependence in humans. Unlike Huntington's and other diseases, which can be linked to a mutation in a single gene, the evidence suggests that the likelihood to develop alcoholism is the product of mutations in many genes, each with small effect. The SWI/SNF complex genes represent a piece of that puzzle.

Read the original post:

Researchers find link between genetic variation and alcohol dependence

Dr. Luria, Mori and Robak receive Pfizer/ACMG Foundation Translational Genomic Fellowship Award

Posted on by

Anne O'Donnell Luria, M.D., Ph.D., Boston Children's Hospital; Mari Mori, M.D., Duke University; Laurie Robak M.D., Ph.D., Baylor College of Medicine receive Pfizer/ACMG Foundation Clinical Genetics Combined Residency for Translational Genomic Scholars Aw

Anne O'Donnell Luria, MD, PhD, of Boston Children's Hospital, Mari Mori, MD of Duke University, and Laurie Robak MD, PhD of Baylor College of Medicine were honored as the 2015-2016 recipients of the Pfizer/ACMG Foundation Clinical Genetics Combined Residency for Translational Genomic Scholars Fellowship Award at the ACMG 2015 Annual Clinical Genetics Meeting in Salt Lake City, Utah.

The objective of this fellowship is to provide an in-depth clinical research training experience at a premier medical center with expertise and significant clinical volume in the area of biochemical genetics, including lysosomal storage diseases, as well as in therapeutics and clinical trials involving patients with these and other metabolic diseases and, thereby, to increase the number of medical geneticists with interest, knowledge, and expertise in this area.

This Award grants $75,000 per year to the three recipients selected by the ACMG Foundation through a competitive process and will provide for the sponsorship of one year of the trainee's clinical genetics subspecialty in translational genomics following residency.

Dr. O'Donnell Luria received her MD and PhD at Columbia University, New York, and is currently completing a combined residency in Pediatrics and Medical Genetics at Boston Children's Hospital, Boston MA. "I am honored to receive the Pfizer/ACMG Foundation Translational Genomics Scholars Fellowship Award. I appreciate the support from Pfizer and the ACMG Foundation to gain additional training in biochemical genetics. I am grateful for the excellent training environment provided by wonderful clinicians, staff, and families that I have had the pleasure to work and train with at Harvard Medical School, Boston Children's Hospital, and Massachusetts General Hospital. This fellowship supports my efforts to begin a research program looking at transcriptional and epigenetic variation in lysosomal storage disease, with an aim of identifying new biomarkers of disease and potential therapeutic targets." Her research during the award period will focus on diagnosis and management of infants, children and adults with inborn errors of metabolism and the impact of epigenetic alterations.

Dr. Mori received her MD at Nagasaki University School of Medicine, Nagasaki, Japan, and MS in Biomedical Informatics at University of Pittsburgh, Pittsburgh PA. She is currently completing her Medical Biochemical Genetics Fellowship at Duke University Medical Center, Durham, NC, after completing a General Genetics Residency at Nationwide Children's Hospital/Ohio State University in Columbus, OH. Her research during the award period will focus on the identification of modifier genes from carefully phenotyped patients with Pompe disease at Duke University Medical Center. "I am deeply honored to be one of the recipients of the Pfizer/ACMG Foundation award. The award allows me to extend my biochemical genetics training to investigate factors that affect variable phenotypes of Pompe disease, under the guidance of Dr. Priya Kishnani, Professor of Pediatrics Division Chief, Medical Genetics at Duke University. The research would lead to a better understanding of prognostication of rare Mendelian diseases, and would have clinical impacts, especially for asymptomatic patients with a lysosomal disease detected by newborn screening."

Dr. Robak received her MD and PhD at University of Rochester, Rochester NY, and is currently completing her combined residency in Pediatrics and Medical Genetics at Baylor College of Medicine. Her research during the award period will focus on exploring the links between Lysosomal Storage Disorders and Parkinson 's disease at Baylor College of Medicine. "I am honored to be a recipient of the 2015 Pfizer/ACMG Foundation Fellowship Award. This June, I will be completing my combined Pediatrics/Medical Genetics residency at Baylor College of Medicine. This prestigious award will allow me to continue my research investigating potential links between lysosomal storage disorders and adult-onset neurodegenerative disorders. My project will be under the guidance of Dr. Joshua Shulman, Assistant Professor of Neurology and Molecular & Human Genetics at Baylor College of Medicine. By providing critical support during my transition from residency to junior faculty, this fellowship will promote my successful career development as a physician-scientist."

"With all of the advances in genomics, the Pfizer/ACMG Foundation Clinical Genetics Combined Residency for Translational Genomic Scholars presents an important opportunity to develop new approaches to diagnosis and treatment of genetic disorders. This fellowship is therefore a key component of our initiative to train physician scientists to be leaders in translational research in medical genomics," said Bruce R. Korf, MD, PhD, FACMG, president of the ACMG Foundation.

###

Note to editors: To arrange interviews with experts in medical genetics, contact Kathy Beal, MBA, ACMG Director of Public Relations at kbeal@acmg.net or 301-238-4582.

See the rest here:

Dr. Luria, Mori and Robak receive Pfizer/ACMG Foundation Translational Genomic Fellowship Award

Healthcare Price Transparency: Changing the Way Providers Sell Services – Video

Posted on by


Healthcare Price Transparency: Changing the Way Providers Sell Services
In this video David Newman, PhD, JD, executive director of the Health Care Cost Institute, explores why price transparency will change the way providers sell healthcare services. While consumer...

By: Healthcare Financial Management Association

View original post here:

Healthcare Price Transparency: Changing the Way Providers Sell Services - Video

Health Care Sector Update for 03/24/2015: MDXG,ABMD,CTIX

Posted on by

Top Health Care Stocks

JNJ -0.93%

PZE -1.40%

MRK -0.80%

ABT -0.15%

AMGN -0.20%

Health care stocks were leading Tuesday's markets lower, with the NYSE Health Care Sector Index dropping about 0.6% and shares of health care companies in the S&P 500 also retreating 0.8% as a group.

In company news, MiMedx Group Inc. ( MDXG ) sprang higher Tuesday after late yesterday saying the U.S. Justice Department has declined to proceed in a potential whistle-blower case against the tissue-processing company over its marketing practices.

The U.S. Department of Health and Human Services inspector general in late December sent a subpoena to MDXG as part of a civil investigation. MDXG said it cooperated fully with investigators, providing over 100,000 lines of electronic data to the inspector general.

At the same time it disclosed the government probe, MDXG also said it had filed suit against Organogenesis Inc., alleging the rival artificial-skin company of spreading "material misinformation" that resulted in Veterans Administration temporarily removing some MDXG products from its supply schedule in 2013.

Go here to see the original:

Health Care Sector Update for 03/24/2015: MDXG,ABMD,CTIX

Latest Business Trends for Leaders

Posted on by

Phoenix, AZ (PRWEB) March 24, 2015

Global futurist Jack Uldrich has made a career out of helping leading organizations future-proof themselves, and he loves doing it. "The futurist's job is to focus on the big picture and point out the 800-pound gorillas that others are missing because their attention is focused elsewhere," says Uldrich. "I want to help future-proof as many businesses as I can against all of the changes that are coming tomorrow. Business models are changing daily, while others are fading away completely, so it's important as a futurist to help the organizations I work with to be aware of their blind spots."

The days that Uldrich isnt busy traveling the country speaking on future-proofing, unlearning and top tech trends, he spends researching and 'seeing' what the latest changes in technology may be and then writes on those trends. Uldrich is the author is of over 11 books, his most recent book is "Foresight 20/20."

Uldrichs keynotes are thought provoking, motivating and incredibly easy to digest and relate to. His next engagement is today at the 2015 Innovation Leadership Summit in Scottsdale. Uldrich's other keynotes have included PIMA, ABB/Thomas & Betts Emax 2 product launches, Verizon Wireless Connected Technology Tour, and Emersons Global Community Exchange.

Uldrich's approach to future-proofing businesses is all about taking the blinders off and taking on the Big AHA which is Uldrichs acronym for Awareness, Humility and Action. According to Uldrich, Many potential and upcoming innovations are already foreseeable given today's capabilities and tools. What's needed to reveal them is awareness and the humility to give up stuck-in-a-rut thinking patterns that stifle useful questions and possibilities. Then, a course of action can turn these desired futures into new realities.

Easier said than done but Uldrich plans to forge ahead and future-proof as many businesses as he can. Following his keynote for the 2015 Innovation Leadership Summit, Uldrich will speak with a leading pharmaceuticals firm in New York and deliver the keynote address for the 2015 Expo for the International Card Manufacturers Association in Phoenix on March 30th.

Parties interested in learning more about Uldrich, his writing or speaking availability are encouraged to go to his website. Media wishing to interview him or to learn more about the event can contact Amy Tomczyk at (612) 343-0060.

View post:

Latest Business Trends for Leaders

Jupiter May Have Destroyed Early Planets And Paved The Way For Earth

Posted on by

Composite image of Earth next to Jupiter. (Credit: NASA)

NASAs Kepler spacecraft has, to date, enabled astronomers to discover over 1,000 planets outside of our solar system. But theres a funny thing about the solar systems astronomers discovered they dont look much like ours at all. Most of them have larger, super-Earths planets smaller than Neptune but bigger than Earth located very close to the Sun.

Our solar system, by contrast, doesnt. Why?

Research conducted by astronomer Gregory Laughlin and astronomer/Forbes 30 Under 30 list member Konstantin Batygin suggest that the responsibility may lie with the planets Jupiter and Saturn.

In a paper published this week in the Proceedings of the National Academy of Sciences, the two astronomers suggest that in the early life of the solar system, Jupiter traveled much closer to the Sun than it is now close to 140 million miles away before reversing course and finding itself in its present orbit about 483 million miles from the Sun thanks to its gravitational interaction between the two gas giants.

Given Jupiters massive size, its strong gravity may have taken its toll on any super-Earths that existed in the early years of the Solar System by literally shifting their orbits so that they fell into the Sun.

In this scenario, the Solar Systems terrestrial planets formed from gas-starved mass-depleted debris that remained, the authors wrote in the paper.

All of this fits beautifully with other recent developments in understanding how the solar system evolved, while filling in some gaps, Batygin said in a statement.

The idea that Jupiter and Saturn once traveled closer to the Sun isnt original to this paper. Called the Grand Tack scenario, it was developed in part by a research group in 2001 and later revived again in 2011 to explain some of what astronomers were learning about the early Solar System. (Astronomer Kevin Walsh has a great page of resources about this theory that you can explore here.) For this research, Laughlin & Batygin ran computer simultations involving the Grand Tack scenario to see how it would impact the Solar System if, like most Solar Systems outside of ours, super-Earths had formed near the Sun.

Its the same thing we worry about if satellites were to be destroyed in low-Earth orbit. Their fragments would start smashing into other satellites and youd risk a chain reaction of collisions. Our work indicates that Jupiter would have created just such a collisional cascade in the inner solar system, Laughlin explained in a press release.

Follow this link:

Jupiter May Have Destroyed Early Planets And Paved The Way For Earth

SC strikes down Section 66A of IT Act Constitution guaranteeing freedom of speech and expression – Video

Posted on by


SC strikes down Section 66A of IT Act Constitution guaranteeing freedom of speech and expression
SC strikes down sec 66A of IT Act, says it #39;s unconstitutional Constitution guaranteeing freedom of speech and expression. http://goo.gl/Y4yRZG Check out our website: http://www.asianetnews.tv...

By: asianetnews

View post:

SC strikes down Section 66A of IT Act Constitution guaranteeing freedom of speech and expression - Video