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Researchers identify new subgroup of cervical cancers with different genetic features

A team of University of South Carolina scientists led by Carolyn Banister and Phillip Buckhaults has identified a new subtype of cervical cancer that, like most cervical cancers, is triggered by human papillomavirus (HPV) but whose growth is not directed by the virus, suggesting that therapy targeting these tumors' distinct genomic pathways may improve patient outcomes over standard treatment.

11 Jan 2017

NCI launches new drug formulary to help expedite use of agents in clinical studies

The National Cancer Institute today launched a new drug formulary (the "NCI Formulary") that will enable investigators at NCI-designated Cancer Centers to have quicker access to approved and investigational agents for use in preclinical studies and cancer clinical trials.

11 Jan 2017

Surveillance machinery in cells recognizes and destroys defective genetic material, research shows

New research out of Case Western Reserve University School of Medicine describes a mechanism by which an essential quality control system in cells identifies and destroys faulty genetic material. The findings were published online December 23 in Nature Communications.

11 Jan 2017

MGH researchers identify gene mutations linked to rare congenital condition involving lack of nose

Researchers from Massachusetts General Hospital led a large, international research team that has identified gene mutations associated with a rare congenital condition involving the absence of a nose and often accompanied by defects involving the eye and reproductive systems.

11 Jan 2017

Penn State researchers develop novel compound to combat cytomegalovirus

A Retro94-based compound may prevent a common and sometimes fatal virus -- human cytomegalovirus (CMV) -- from reproducing and help to protect immunocompromised patients, such as those with HIV, on chemotherapy, with transplants, and infants from the effects of the disease, according to Penn State College of Medicine researchers.

10 Jan 2017

Study reveals importance of glutamine metabolism for colon cancer

The importance of glutamine was made clear as a colon cancer specific metabolism. It is known that glutamine metabolism is important for pancreatic cancer, but the importance of glutamine metabolism for colon cancer has been unclear.

10 Jan 2017

Researcher uncovers secret life of Dab2 protein

Sometimes proteins do a lot more than we expect. Dab2, for example, has long been linked to cancer.

10 Jan 2017

Scientists crack genetic code to identify men at risk for prostate cancer that spreads after treatment

Canadian prostate cancer researchers have discovered the genetic fingerprint that explains why up to 30 per cent of men with potentially curable localized prostate cancer develop aggressive disease that spreads following radiotherapy or surgery.

10 Jan 2017

Orphan Disease Center establishes new initiative that focuses on ALS

The Orphan Disease Center in the Perelman School of Medicine at the University of Pennsylvania has established a new Program of Excellence for Motor Neuron Disease.

10 Jan 2017

Johns Hopkins researchers identify new biological target for treating spinal muscular atrophy

Johns Hopkins researchers along with academic and drug industry investigators say they have identified a new biological target for treating spinal muscular atrophy.

9 Jan 2017

Houston Methodist researchers advance potential treatment for metaplastic breast cancer

Houston Methodist Hospital researchers have advanced a potential treatment for metaplastic breast cancer--the most aggressive subtype of triple negative breast cancer, into patients in just under four years.

6 Jan 2017

Northwestern Medicine scientists identify targeted molecular therapy that halts childhood leukemia

Northwestern Medicine scientists have discovered the genetic driver of a rare and lethal childhood leukemia and identified a targeted molecular therapy that halts the proliferation of leukemic cells.

6 Jan 2017

Cancers acquire resistance to immunotherapy by eliminating tumor-specific genetic mutations

Results of an initial study of tumors from patients with lung cancer or head and neck cancer suggest that the widespread acquired resistance to immunotherapy drugs known as checkpoint inhibitors may be due to the elimination of certain genetic mutations needed to enable the immune system to recognize and attack malignant cells.

6 Jan 2017

UNC Catalyst aims to provide knowledge and research tools to tackle rare diseases

Freely giving researchers the tools and knowledge to tackle rare and orphaned diseases is the mission of UNC Catalyst, a new endeavor the University of North Carolina at Chapel Hill has launched with a $2 million grant from the Eshelman Institute for Innovation.

5 Jan 2017

Giving polycystic kidney disease the bump

We launched this campaign at the beginning of October 2016. It's the first time that we've ever had a campaign of this size and scope. It's a European campaign in multiple languages that's coordinated by six of the organizations that represent PKD patients in Europe.

5 Jan 2017

Persistent infection in infant reveals mutation that helps bacteria tolerate antibiotic therapy

The quest to understand a prolonged infection in an infant being treated for leukemia has led to the St. Jude Children's Research Hospital discovery of a mutation that allows bacteria to tolerate normally effective antibiotic therapy. The report appears today in the scientific journal mBio.

3 Jan 2017

Study examines how ApoE gene may function differently in infectious environment

You've likely heard about being in the right place at the wrong time, but what about having the right genes in the wrong environment? In other words, could a genetic mutation (or allele) that puts populations at risk for illnesses in one environmental setting manifest itself in positive ways in a different setting?

30 Dec 2016

Massive sequencing and coevolution unveils secrets of human protein interactions

Cells operate like an incredibly well-synchronized orchestra of molecular interactions among proteins. Understanding this molecular network is essential not only to understand how an organism works but also to determine the molecular mechanisms responsible for a multitude of diseases.

30 Dec 2016

Specific gene pathway appears to regulate growth, structure, and organization of cerebral cortex

One of the most significant ways in which the human brain is unique is the size and structure of the cerebral cortex. But what drives the growth of the human cortex, likely the foundation for our unique intellectual abilities?

30 Dec 2016

Mutations linked to endometrial cancer can be found in uterine lavage fluid before cancer diagnosis

Mutations that have been linked to endometrial cancer can be found in the uterine lavage fluid of pre- and post-menopausal women both with and without detectable cancer, according to a study published in PLOS Medicine by John Martignetti, MD, PhD of the Icahn School of Medicine at Mount Sinai and colleagues.

30 Dec 2016

Mutation News and Research

Researchers identify new subgroup of cervical cancers with different genetic features

NCI launches new drug formulary to help expedite use of agents in clinical studies

Surveillance machinery in cells recognizes and destroys defective genetic material, research shows

MGH researchers identify gene mutations linked to rare congenital condition involving lack of nose

Penn State researchers develop novel compound to combat cytomegalovirus

Study reveals importance of glutamine metabolism for colon cancer

Researcher uncovers secret life of Dab2 protein

Scientists crack genetic code to identify men at risk for prostate cancer that spreads after treatment

Orphan Disease Center establishes new initiative that focuses on ALS

Johns Hopkins researchers identify new biological target for treating spinal muscular atrophy

Houston Methodist researchers advance potential treatment for metaplastic breast cancer

Northwestern Medicine scientists identify targeted molecular therapy that halts childhood leukemia

Cancers acquire resistance to immunotherapy by eliminating tumor-specific genetic mutations

UNC Catalyst aims to provide knowledge and research tools to tackle rare diseases

Giving polycystic kidney disease the bump

Persistent infection in infant reveals mutation that helps bacteria tolerate antibiotic therapy

Study examines how ApoE gene may function differently in infectious environment

Massive sequencing and coevolution unveils secrets of human protein interactions

Specific gene pathway appears to regulate growth, structure, and organization of cerebral cortex

Mutations linked to endometrial cancer can be found in uterine lavage fluid before cancer diagnosis

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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