Rett Syndrome Rannsóknarsjóður Guðrúnar

UAB researchers seek to reverse Rett syndrome in children

November 17, 2011

The study by researchers at the University of Alabama at Birmingham is part of mounting evidence that conditions from autism to Down syndrome need not last a lifetime.

“Our results suggest that the field is on the right track in early efforts to design a treatment for a devastating condition in Rett syndrome,” said Lucas Pozzo-Miller, Ph.D., professor of neurobiology at UAB and senior author of the paper. “They also provide the latest argument that correcting for the genetic miscues behind developmental disabilities may one day reverse their effect, even if treated in adulthood.”

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Posted by Fridrik Fridriksson.

Viðtal við Guðrúnu Sædal, stelpuna okkar :-)

November 7, 2011

Viðtal við Guðrúnu Sædal Friðriksdóttur, dóttur okkar á RÚV, 6. nóvember 2011.

http://www.ruv.is/frett/tugir-hafa-ekki-fengid-greiningu
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Posted by Fridrik Fridriksson.

Transforming Drug Discovery

October 21, 2011

Harvard Medical School launches major initiative to address crisis in drug development

Taking aim at the alarming slowdown in the development of new and lifesaving drugs, Harvard Medical School is launching an Initiative in Systems Pharmacology, a comprehensive strategy to transform drug discovery by convening biologists, chemists, pharmacologists, physicists, computer scientists and clinicians to explore together how drugs work in complex systems.

http://www.focushms.com/features/transformin...

Posted by Fridrik Fridriksson.

EU Court Strictly Limits Stem Cell Patents

October 18, 2011

The European Court of Justice on Tuesday issued a ruling which prohibits the patenting of stem cells extracted from human embroyos. The verdict could have far-reaching implications for stem cell research in Europe, with critics calling it an "unbelievable setback."

http://www.spiegel.de/international/europe/0,1518,792506,00.html#ref=nlint
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Posted by Fridrik Fridriksson.

Liver transplants could be a thing of the past as scientists grow working cells that correct genetic mutation

October 18, 2011

British scientists have developed a new stem cell technique for growing working liver cells which could eventually avoid the need for costly and risky liver transplants.

A team of researchers led by the Sanger Institute and the University of Cambridge used cutting-edge methods to correct a genetic mutation in stem cells derived from a patient's skin biopsy, and then grew them into fresh liver cells.

By putting the new liver cells into mice, they showed they were fully functioning.

Allan...

Posted by Fridrik Fridriksson.

Make Mine Rare

September 14, 2011

With mounting interest from biotechs, Big Pharma, and the federal government, research on rare diseases is burgeoning.

http://the-scientist.com/2011/08/01/make-mine-rare/
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Posted by Fridrik Fridriksson.

Reynt að nota Desipramine chlorhydrate við meðferð á Rett Syndrome

September 14, 2011

On 12 June 2009, orphan designation (EU/3/09/643) was granted by the European Commission to Targeon SAS, France, for desipramine chlorhydrate for the treatment of Rett syndrome.

Desipramine chlorhydrate has been used in the treatment of depression since the 1960s. In Rett syndrome, the medicine is expected to treat breathing problems.

Girls with Rett syndrome tend to have low levels of norepinephrine, a substance in the brain and spinal cord that helps maintain a normal breathing rhythm. Desipr...
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Posted by Fridrik Fridriksson.