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New genetic research holds promise for patients with Chuvash polycythemia

New research conducted at UNC Lineberger Comprehensive Cancer Center, offers hope for people with a rare disorder called Chuvash polycythemia.

23 Jun 2011

Experts to focus on Shwachman-Diamond Syndrome at New York Academy of Sciences conference

On June 28-30, 2011, the New York Academy of Sciences will bring together scientists and clinicians from a wide range of subspecialties, in addition to patients and caregivers, to discuss the most important recent advances in our understanding of the clinical features, management, and treatment of Shwachman-Diamond Syndrome (SDS)-a rare disorder involving multiple organ systems and affecting children and young adults.

23 Jun 2011

Key trigger to rare but deadly neurodegenerative disease

Jeremy Smith, Governor's Chair for Molecular Biophysics at the University of Tennessee, Knoxville, has helped reveal a key trigger of Gerstmann-Str-ussler-Scheinker (GSS) syndrome, a rare but deadly neurodegenerative disease. The finding could have far-reaching implications for the treatment of other neurodegenerative diseases such as Alzheimer's, Huntington's, and Parkinson's.

23 Jun 2011

Researchers identify natural mechanism linked with Huntington's disease

Johns Hopkins researchers have identified a natural mechanism that might one day be used to block the expression of the mutated gene known to cause Huntington's disease.

22 Jun 2011

Twelve institutions receive NPCRC and American Cancer Society grants for palliative care research

The American Cancer Society and the National Palliative Care Research Center (NPCRC) are awarding $2 million in research grants to researchers at 12 institutions for studies aimed at reducing suffering for seriously ill patients and their family caregivers.

22 Jun 2011

Researchers identify potential cause of hereditary, progressive blindness

Medics at the RUB have found the cause of hereditary, progressive blindness: they have identified the previously unknown protein CCDC66, the loss of which initially leads to night blindness and in due course usually results in complete blindness.

22 Jun 2011

Nine young clinical investigators earn recognition from Damon Runyon Cancer Research Foundation

The Damon Runyon Cancer Research Foundation named five new Damon Runyon Clinical Investigators at its spring 2011 Clinical Investigator Award Committee review.

22 Jun 2011

Genetic mutation linked to peripartum cardiomyopathy during pregnancy

Researchers at the Intermountain Medical Center Heart Institute in Salt Lake City have identified the first genetic mutation ever associated with a mysterious and potentially devastating form of heart disease that affects women in the final weeks of pregnancy or the first few months after delivery.

22 Jun 2011

Reduced levels of VAPB protein may play central role in causing ALS

An international team of scientists led by researchers at the University of California, San Diego School of Medicine have used induced pluripotent stem cells (iPSCs) derived from patients with amyotrophic lateral sclerosis (ALS) to reveal for the first time how reduced levels of a specific protein may play a central role in causing at least one inherited form of the disease.

22 Jun 2011

Johns Hopkins scientists develop mouse model for autism spectrum disorders

In an effort to unravel the tangled biology of autism, Johns Hopkins scientists have created a mouse model that mimics a human mutation of a gene known to be associated with autism spectrum disorders.

21 Jun 2011

Breakthrough treatment for Cystic Fibrosis sufferers with 'Celtic Gene'

An international research team led by Queen's University have developed a ground breaking treatment for Cystic Fibrosis sufferers. The new drug will benefit sufferers who have the 'Celtic Gene', a genetic mutation which is particularly common in Ireland.

20 Jun 2011

Ground breaking treatment for Cystic Fibrosis

20 Jun 2011

Novel vaccine approach for prostate cancer

Mayo Clinic investigators and collaborators from the United Kingdom cured well-established prostate tumors in mice using a human vaccine with no apparent side effects. This novel cancer treatment approach encourages the immune system to rid itself of prostate tumors without assistance from toxic chemotherapies and radiation treatments.

20 Jun 2011

New insight into progressive supranuclear palsy

There are new genetic clues on risk factors and biological causes of a rare neurodegenerative disease called progressive supranuclear palsy (PSP), according to a new study from an international genetics team led by researchers from the Perelman School of Medicine at the University of Pennsylvania.

20 Jun 2011

Scientists reveal complex protein mechanism that regulates genes linked with cancer

Scientists at Memorial Sloan-Kettering Cancer Center in New York and at IRB Barcelona reveal the mechanism of action of a protein that is essential for life and is associated with disease.

17 Jun 2011

Specific lipid mixtures can overcome lethal effects of multidrug-resistant bacteria

"Super bugs," which can cause wide-spread disease and may be resistant to most, if not all, conventional antibiotics, still have their weaknesses. A team of Canadian scientists discovered that specific mixtures of antimicrobial agents presented in lipid (fatty) mixtures can significantly boost the effectiveness of those agents to kill the resistant bacteria.

17 Jun 2011

'Blue baby' study sheds light on basic biology

A newborn described as a "happy blue baby" because of her bluish skin color but healthy appearance made a small mark in medical history when one of her physicians discovered something new in her genes-the hemoglobin Toms River mutation.

17 Jun 2011

Transgenomic introduces Nuclear Mitome Test for diagnosis of mitochondrial disorders

Transgenomic, Inc. today announced the launch of the Nuclear Mitome Test, a genetic test to aid physicians in the diagnosis of mitochondrial disorders.

17 Jun 2011

Adaptimmune melanoma trial opening

Adaptimmune announced today that it has opened a Phase I/II, two cohort, open label clinical trial in metastatic melanoma at Washington University, St. Louis, Missouri.

16 Jun 2011

Cancer Research UK to launch genetic testing programme

Cancer Research UK's chief executive Harpal Kumar today spoke of a 'golden era' for cancer research as the UK is poised to lead the world in individualising the practice of medicine by understanding which treatments are best suited to an individual patient's particular genetic type of cancer.

16 Jun 2011