Genetic finding offers hope for orphan disease

New drugs should work for rare blood disorder

2011-06-23

(Press-News.org) New research conducted at UNC Lineberger Comprehensive Cancer Center, offers hope for people with a rare disorder called Chuvash polycythemia.

Polycythemia is a disease characterized by excessive production of red blood cells. Symptoms include an enlarged spleen, blood clots, an increased risk of stroke, and in some cases the disease is a precursor to acute leukemia. While 95 percent of polycythemia cases are associated with a mutation in the JAK2 gene, a small number of patients have a mutation in the von Hippel-Lindau gene that produces a protein called pVHL.

"It was thought that these two types of polycythemia would need treatments targeting different biochemical pathways," says William Kim, MD, one of the study authors and a member of UNC Lineberger Comprehensive Cancer Center. Kim is an assistant professor of Medicine and Genetics at UNC-Chapel Hill.

"We found that – despite their different origins – both types of disease display activation of JAK2. This is exciting because there are JAK2 inhibitors in late stage clinical trials that look promising for patients with JAK2 mutant polycythemia. Our work in laboratory models shows that inhibition of JAK2 is an effective strategy for both types of the disease. Under normal circumstances, the small number of people with a Chuvash VHL mutation would make this type of polycythemia an orphan disease. There are simply not enough patients to make the development of a targeted treatment worthwhile for pharmaceutical companies," he added.

The study results were published earlier this week in the journal Nature Medicine.

Kim cautions that, while the JAK2 inhibitors look very promising in laboratory models of Chuvash polycythemia, they have not yet been tested in humans.

###Other UNC Lineberger collaborators include Bing Zhou, PhD, and Samuel Heathcote, BS. Scientists from the University of Toronto, University of Pennsylvania, University of California, San Diego, Howard Hughes Medical Institute and The Hospital for Sick Children in Toronto, Ontario also participated in the research.

The research was funded by the Canadian Cancer Society, the U.S. National Institutes of Health and U.S. Department of Defense. Dr. Kim is a Damon Runyon Merck clinical investigator.

ELSE PRESS RELEASES FROM THIS DATE:

Evolution to the rescue

2011-06-23

Evolution is usually thought to be a very slow process, something that happens over many generations, thanks to adaptive mutations. But environmental change due to things like climate change, habitat destruction, pollution, etc. is happening very fast. There are just two options for species of all kinds: either adapt to environmental change or become extinct. So, according to McGill biology professor, Andrew Gonzalez, the question arises, "Can evolution happen quickly enough to help a species survive?" The answer, according to his most recent study, published in Science, ...

Study: Wild Cuban crocodiles hybridize with American crocs

2011-06-23

NEW YORK (June 22, 2011) – A new genetic study by a team of Cuban and American researchers confirms that American crocodiles are hybridizing with wild populations of critically endangered Cuban crocodiles, which may cause a population decline of this species found only in the Cuban Archipelago. Cuban crocodiles and American crocodiles have been confirmed to interbreed in captivity and were suspected to hybridize in the wild. This is the first genetic study that confirms wild hybridization. The study, which appears in the spring issue of the Journal of Experimental ...

Powerful, intoxicated, anonymous: The paradox of the disinhibited

2011-06-23

Power can lead to great acts of altruism, but also corruptive, unethical behavior. Being intoxicated can lead to a first date, or a bar brawl. And the mask of anonymity can encourage one individual to let a stranger know they have toilet paper stuck to their shoe, whereas another may post salacious photos online. What is the common thread between these three disparate states? A forthcoming article from the Kellogg School of Management at Northwestern University presents a new model that explains how the diverse domains of power, alcohol intoxication and anonymity produce ...

It's not about the money for long-term care nurses

2011-06-23

Pay plays a relatively small role in a nurse's decision to stay at or leave a job in a nursing home, according to new research from Rice University, the University of Pittsburgh and Baylor College of Medicine. In a comprehensive study of certified nursing assistants, researchers found that attitudinal factors such as job satisfaction and emotional well-being are better predictors of turnover in long-term care facilities. While previous studies have found high turnover rates -- between 23 and 36 percent -- in the long-term care industry, this new study found that only ...

Economic cost of weather may total $485 billion in US

2011-06-23

Contact: David Hosansky hosansky@ucar.edu 303-497-8611 Rachael Drummond rachaeld@ucar.edu 303-497-8604 National Center for Atmospheric Research/University Corporation for Atmospheric Research Economic cost of weather may total $485 billion in US BOULDER—Everything has its price, even the weather. New research indicates that routine weather events such as rain and cooler-than-average days can add up to an annual economic impact of as much as $485 billion in the United States. The study, led by the National Center for Atmospheric Research (NCAR), found that ...

Dietary leucine may fight prediabetes, metabolic syndrome

2011-06-23

BOSTON -- June 22, 2011 -- A study led by researchers at the Joslin Diabetes Center suggests that adding the amino acid leucine to their diets may help those with pre-diabetes or metabolic syndrome. In an animal study, published in the journal PloS One, mice who had been on a high-fat diet and who also received twice the usual intake of leucine, an amino acid found in protein, showed reductions in their prediabetic conditions with lower blood sugars and less fat in their livers, two of the collection of medical problems associated with insulin resistance that make up ...

College scientist cites enlarged skeletal muscles as reason birds exist

2011-06-23

A developmental biologist at New York Medical College is proposing a new theory of the origin of birds, which traditionally has been thought to be driven by the evolution of flight. Instead, Stuart A. Newman, Ph.D., credits the emergence of enlarged skeletal muscles as the basis for their upright two-leggedness, which led to the opportunity for other adaptive changes like flying or swimming. And it is all based on the loss of a gene that is critical to the ability of other warm-blooded animals to generate heat for survival. Dr. Newman, a professor of cell biology and ...

Nudging doctors in intensive care unit reduces deaths

2011-06-23

CHICAGO --- Caring for patients in a medical intensive care unit in a hospital and flying a 747 are complicated tasks that require tracking thousands of important details, some of which could get overlooked. That's why the pilot has a checklist and a copilot to make sure nothing slips by. A new Northwestern Medicine study shows the attending physician in the intensive care unit could use a copilot, too. The mortality rate plummeted 50 percent when the attending physician in the intensive care unit had a checklist – a fairly new concept in medicine -- and a trusted person ...

Sharing wisdom, teacher to teacher

2011-06-23

CAMBRIDGE, Mass. -- How do you teach math students to speak and write effectively about what they do? Crucially, how do you teach their teachers — themselves mathematicians — how to impart and evaluate these skills? Faced with this problem, a group of instructors in MIT's Department of Mathematics decided that many heads are better than one. They began brainstorming ways to encourage teacher-to-teacher collaboration, bridging educators with similar challenges in different courses and from semester to semester. Now, they've developed a tool they believe will be useful ...

Molecular glue sticks it to cancer

2011-06-23

Imagine dropping dish soap into a sink full of greasy water. What happens? As soon as the soap hits the water, the grease recoils—and retreats to the edges of the sink. Now, what if the sink was a cancer cell, the globs of grease were cancer-promoting proteins and the dish soap was a potential drug? According to new research from the University of Toronto Mississauga, such a drug could force the proteins to the cell's membrane (a.k.a., the edge of the sink)—and make the cancer cell more vulnerable to chemotherapy. "This is a totally new approach to cancer therapy," ...

Genetic finding offers hope for orphan disease

ELSE PRESS RELEASES FROM THIS DATE:

LAST 30 PRESS RELEASES: