Mutation News and Research

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INF2 gene mutation is a major cause for focal segmental glomerulosclerosis

Mutations in a gene called INF2 are by far the most common cause of a dominantly inherited condition that leads to kidney failure, according to a study appearing in an upcoming issue of the Journal of the American Society Nephrology. The results may help with screening, prevention, and therapy.

21 Jan 2011

Researchers believe driver mutations promote development, growth of prostate cancer

Prostate cancer is known to occur typically in older men. Yet some patients are younger than 50 years at the time of diagnosis. Scientists assume that these cases might be the key to understanding the biology of this disease. Early prostate cancer might be a subtype which is characterized by a relatively small number of genetic modifications.

21 Jan 2011

Scientists decipher genetic code for a pancreatic cancer type

Scientists at Johns Hopkins have deciphered the genetic code for a type of pancreatic cancer, called neuroendocrine or islet cell tumors. The work, described online in the Jan. 20 issue of Science Express, shows that patients whose tumors have certain coding "mistakes" live twice as long as those without them.

21 Jan 2011

Koronis' KP-1461 drug causes extra mutations to occur in HIV genome in HIV-infected patients

Recently published Phase 2a clinical trial results show that the frequency of specific, drug-induced mutations in the HIV genome can be significantly increased by administering KP-1461, a drug being developed by Koronis Pharmaceuticals based on its novel Viral Decay Acceleration (VDA) drug mechanism.

20 Jan 2011

Researchers identify PBRM1 gene mutation in one in three patients with common form of renal cancer

In a collaborative project involving scientists from three continents, researchers have identified a gene that is mutated in one in three patients with the most common form of renal cancer.

20 Jan 2011

GSK and Prosensa commence GSK2402968 Phase III study in DMD

GlaxoSmithKline and Prosensa today announced that the first patient has commenced treatment in the Phase III clinical study investigating GSK2402968, in ambulant boys with Duchenne Muscular Dystrophy (DMD), who have a dystrophin gene mutation amenable to an exon 51 skip (up to 13% of boys with DMD). Commencement of this study confirms previously announced plans to progress this asset into Phase III.

20 Jan 2011

UNC scientists discover how chaperone enzyme plays a key role in cells' ability to tolerate DNA damage

UNC scientists who study how cells repair damage from environmental factors like sunlight and cigarette smoke have discovered how a "chaperone" enzyme plays a key role in cells' ability to tolerate the DNA damage that leads to cancer and other diseases.

19 Jan 2011

RG7204 Phase III study shows significant survival benefit in patients with metastatic melanoma

Genentech, a member of the Roche Group, today announced that BRIM3, a Phase III clinical study of RG7204, met its co-primary endpoints showing a significant survival benefit in people with previously untreated BRAF V600 mutation-positive metastatic melanoma.

19 Jan 2011

Common genetic risk factor for heart failure in Caucasians also linked to kidney function

Nearly five million Americans live with heart failure, with as many as 700,000 new cases diagnosed each year. In addition to lifestyle factors, scientists have shown that heart failure has a strong heritable component, but identifying the responsible genes has been a major challenge. Now, new research has identified a common genetic risk factor for heart failure in Caucasians that is also linked to kidney function.

19 Jan 2011

Positive results from PLX4032 Phase 3 Trial in patients with metastatic melanoma

Plexxikon today announced positive data from an interim analysis of the BRIM3 trial, a large multi-center Phase 3 clinical study of PLX4032 in patients with previously untreated metastatic melanoma with the BRAF mutation. Patients treated with PLX4032 had an improved overall survival compared to patients treated with dacarbazine, the current standard of care.

19 Jan 2011

PAM50 test is now available to classify breast cancer subtypes

ARUP Laboratories, a leading national clinical and anatomic pathology reference laboratory and a leader in innovative laboratory research and development, today announced the availability of a new laboratory developed test designed to classify breast cancer into clinically significant molecular subtypes that are important for the management of the disease.

18 Jan 2011

Heart disease patients' skin cells may help test long QT syndrome

Skin cells from a patient with an inherited heart disease were the seeds of a stem cell experiment that could help researchers test specific treatments for the disease, known as long QT syndrome. The research results appear in the January 16 issue of the journal Nature.

18 Jan 2011

Scientists create GM chicken that does not spread bird flu to other chickens

"Scientists have developed genetically modified [GM] chickens that don't transmit bird flu [H5N1] to other chickens," HealthDay News/Bloomberg Businessweek reports.

18 Jan 2011

Clinical studies by expert HIV clinicians suggest that HIV-TRePS may have clinical and economic benefits

Two multinational clinical studies indicate that the RDI’s system for predicting how HIV and AIDS patients will respond to different drugs could be a useful tool with potential clinical and economic benefits. The studies, published in the January issue of AIDS Patient Care and STDs, involved highly experienced physicians in the USA, Canada and Italy who used the system to help them select the optimum combination of HIV drugs for patients whose therapy was failing.

18 Jan 2011

New study reveals measles viral gene plays key role in development of PD

A gene from the measles virus plays a key role in the development of Paget's disease of bone, according to a team of researchers led by the University of Pittsburgh School of Medicine.

18 Jan 2011

'Pacemaker' Hcn4 gene responsible for generation of repetitive activity in SAN tissue and heart rate regulation

The study of Dario DiFrancesco and his equipe identifies the "pacemaker" Hcn4 gene as the gene functionally responsible for the generation of repetitive activity in sinoatrial node tissue and for the regulation of heart rate. Hcn4 codes for HCN4 channels, the molecular components of "funny" ion channels of pacemaker cells of the sinoatrial node (SAN) tissue.

14 Jan 2011

Researchers discover molecular mechanism behind coffee's protective effect

Coffee, that morning elixir, may give us an early jump-start to the day, but numerous studies have shown that it also may be protective against type 2 diabetes. Yet no one has really understood why.

14 Jan 2011

Scientists demonstrate how one gene evolves two competing functions via duplication

Researchers report that they are the first to show in molecular detail how one gene evolved two competing functions that eventually split up - via gene duplication - to pursue their separate destinies.

13 Jan 2011

BIDMC scientist wins 2011 Pezcoller Foundation-AACR International Award for cancer research

Beth Israel Deaconess Medical Center cancer geneticist Pier Paolo Pandolfi, MD, PhD, is the recipient of the 2011 Pezcoller Foundation-AACR (American Association of Cancer Research) International Award for Cancer Research.

13 Jan 2011

New discovery has brought dream of transforming measles virus against cancer

When most people in the developed world think of measles, what comes to mind is only a dim memory of a vaccination at a pediatrician's office. But while childhood vaccination has virtually eliminated measles from North America and much of Europe, researchers remain interested in the virus.

13 Jan 2011

Mutation News and Research

INF2 gene mutation is a major cause for focal segmental glomerulosclerosis

Researchers believe driver mutations promote development, growth of prostate cancer

Scientists decipher genetic code for a pancreatic cancer type

Koronis' KP-1461 drug causes extra mutations to occur in HIV genome in HIV-infected patients

Researchers identify PBRM1 gene mutation in one in three patients with common form of renal cancer

GSK and Prosensa commence GSK2402968 Phase III study in DMD

UNC scientists discover how chaperone enzyme plays a key role in cells' ability to tolerate DNA damage

RG7204 Phase III study shows significant survival benefit in patients with metastatic melanoma

Common genetic risk factor for heart failure in Caucasians also linked to kidney function

Positive results from PLX4032 Phase 3 Trial in patients with metastatic melanoma

PAM50 test is now available to classify breast cancer subtypes

Heart disease patients' skin cells may help test long QT syndrome

Scientists create GM chicken that does not spread bird flu to other chickens

Clinical studies by expert HIV clinicians suggest that HIV-TRePS may have clinical and economic benefits

New study reveals measles viral gene plays key role in development of PD

'Pacemaker' Hcn4 gene responsible for generation of repetitive activity in SAN tissue and heart rate regulation

Researchers discover molecular mechanism behind coffee's protective effect

Scientists demonstrate how one gene evolves two competing functions via duplication

BIDMC scientist wins 2011 Pezcoller Foundation-AACR International Award for cancer research

New discovery has brought dream of transforming measles virus against cancer

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

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