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Genetic testing for inherited blood-clotting abnormalities not routinely recommended for VTE patients

Genetic testing for inherited blood-clotting abnormalities is not routinely recommended for patients with venous thromboembolism (VTE) of unknown cause, according to a new expert panel statement in a recent issue of Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics (ACMG).

11 Feb 2011

Cancer cells 'addicted' to self-preservation process

A team of investigators at The Cancer Institute of New Jersey (CINJ); Rutgers, The State University of New Jersey; and Princeton University, have determined that cancer cells are "addicted" to a self-preservation process known as autophagy. They also showed that the inhibition of that process could prove to be a valuable treatment approach for aggressive cancers. CINJ is a Center of Excellence of UMDNJ-Robert Wood Johnson Medical School.

11 Feb 2011

Patients with high blood pressure have benign endocrine tumours in adrenal gland: Research

High blood pressure may in some cases be caused by benign hormone-producing tumours of the adrenal cortex. A joint Swedish-American research effort has now uncovered a genetic cause behind the occurrence of such tumours. The findings were published today in the journal Science.

11 Feb 2011

Full genetic blueprint of multiple prostate tumors laid bare

For the first time, researchers have laid bare the full genetic blueprint of multiple prostate tumors, uncovering alterations that have never before been detected and offering a deep view of the genetic missteps that underlie the disease. The study, made possible by key advances in whole genome sequencing and analysis, points to several new prostate cancer genes and a critical category of genomic changes as important drivers of prostate cancer growth.

10 Feb 2011

EMA grants QLT positive opinions for Orphan Drug Designation of QLT091001 to treat inherited blindness

QLT Inc. today announced that QLT091001, an oral synthetic retinoid, has received positive opinions for two distinct Orphan Drug Designations by the European Medicines Agency (EMA) Committee for Orphan Medicinal Products (COMP) for the treatment of the inherited retinal degenerative diseases, Leber Congenital Amaurosis (LCA) and Retinitis Pigmentosa (RP).

10 Feb 2011

Avian flu vaccine stockpiled in 2004 still useful

A stockpiled vaccine designed to fight a strain of avian flu that circulated in 2004 can be combined with a vaccine that matches the current strain of bird flu to protect against a potential pandemic, researchers from Saint Louis University's Center for Vaccine Development have found.

10 Feb 2011

Study unveils surprising mechanism that controls brain formation

A study from The Scripps Research Institute has unveiled a surprising mechanism that controls brain formation. The findings have implications for understanding a host of diseases, including some forms of mental retardation, epilepsy, schizophrenia, and autism.

10 Feb 2011

Scientists generate beating heart cells from skin cells of young patients with severe genetic heart defect

Using skin cells from young patients who have a severe genetic heart defect, Stanford University School of Medicine scientists have generated beating heart cells that carry the same genetic mutation. The newly created human heart cells - cardiomyocytes - allowed the researchers for the first time to examine and characterize the disorder at the cellular level.

10 Feb 2011

Scientists discover KCNH2 gene mutation in patients with long QT syndrome

Researchers from the Hospital Virgen de las Nieves of the University of Granada have identified the most frequent mutations in the gene KCNH2 in patients with long QT syndrome.

10 Feb 2011

HIV-negative babies born to HIV-positive mothers have lower antibody levels for some infections, study finds

"Babies who are exposed to HIV at birth but don't become infected with the virus have lower levels of antibodies to diseases such as whooping cough, tetanus and pneumococcus," according to a study published in the Feb. 9 issue of the Journal of the American Medical Association (JAMA), HealthDay News/U.S. News & World Report.

10 Feb 2011

Everolimus phase III study shows improved progression-free survival in patients with pNET

In an international Phase III randomized study, everolimus, an inhibitor of the mammalian target of rapamycin, has shown to dramatically improve progression-free survival for patients with advanced pancreatic neuroendocrine tumors, according to researchers from The University of Texas MD Anderson Cancer Center.

9 Feb 2011

bcl3 gene limits lung injury during acute stress from illness, trauma, transplant

Lung injury is a common cause of death among patients with pneumonia, sepsis or trauma and in those who have had lung transplants. The damage often occurs suddenly and can cause life-threatening breathing problems and rapid lung failure.

9 Feb 2011

Research unmasks long sought stem cell origin of carcinoma

A constellation of different stem cell populations within our skin help it to cope with normal wear and tear. By constantly proliferating, the stem cells allow skin to replenish itself, allowing each cell to be replaced by a new one about once a month. But the normal cycle of division and death within one or more of these stem cell types can sometimes be derailed by genetic mishaps. Such events are believed to spawn carcinomas and other deadly skin cancers, which are the mostly frequently diagnosed cancers in the United States.

4 Feb 2011

Scientists reprogram marrow cells from patient with chronic myeloid leukemia

By coaxing healthy and diseased human bone marrow to become embryonic-like stem cells, a team of Wisconsin scientists has laid the groundwork for observing the onset of the blood cancer leukemia in the laboratory dish.

4 Feb 2011

UM researchers find genetic cause of retinitis pigmentosa

Researchers led by geneticists at the University of Miami Miller School of Medicine have identified a new gene that causes retinitis pigmentosa, a form of blindness, ending one South Florida family's nearly 20-year search for what caused three of their four children to lose their sight.

4 Feb 2011

New study provides insight into mechanism behind breast cancer mutation

A new study sheds light on why individuals who inherit a particular family of mutations have a high risk of developing a very aggressive form of breast cancer. The research, published by Cell Press on February 4th in the journal Cell Stem Cell, shows that breast tissue cells from these individuals make abnormal cell-fate decisions even before cancer develops and provides exciting new insights into the mechanisms behind one of the most lethal types of breast cancer.

4 Feb 2011

Rare new disease identified – calcium accumulates in blood vessels

A new rare disease has been identified. Louise Benge’s started having difficulty in walking when she was 25. She developed hardening and pain over her calves and hands. She worsened over the next 20 years. Her family physician in Mount Vernon, Ky., was at a loss, as were a vascular specialist, a hand specialist and a kidney specialist. Her two sisters and two brothers had the problem too, but no doctor could understand why.

3 Feb 2011

Study reveals how MMSET gene enables disease-causing mutations to occur

For several decades, researchers have been linking genetic mutations to diseases ranging from cancer to developmental abnormalities. What hasn't been clear, however, is how the body's genome sustains such destructive glitches in the first place.

3 Feb 2011

HMORN, iSAEC collaborate to enroll subjects in SAE research project using EMR database

The International Serious Adverse Events Consortium announced today a new collaboration with the HMO Research Network to enroll subjects in research to identify genetic markers that may help predict risk associated with a range of serious drug-related adverse events.

3 Feb 2011

International scientist team identifies gene mutation strongly linked to schizophrenia

In a major advance for schizophrenia research, an international team of scientists, led by Jonathan Sebat, PhD, assistant professor of psychiatry and cellular and molecular medicine at the University of California, San Diego School of Medicine, has identified a gene mutation strongly linked to the brain disorder - and a signaling pathway that may be treatable with existing compounds.

3 Feb 2011

Mutation News and Research

Genetic testing for inherited blood-clotting abnormalities not routinely recommended for VTE patients

Cancer cells 'addicted' to self-preservation process

Patients with high blood pressure have benign endocrine tumours in adrenal gland: Research

Full genetic blueprint of multiple prostate tumors laid bare

EMA grants QLT positive opinions for Orphan Drug Designation of QLT091001 to treat inherited blindness

Avian flu vaccine stockpiled in 2004 still useful

Study unveils surprising mechanism that controls brain formation

Scientists generate beating heart cells from skin cells of young patients with severe genetic heart defect

Scientists discover KCNH2 gene mutation in patients with long QT syndrome

HIV-negative babies born to HIV-positive mothers have lower antibody levels for some infections, study finds

Everolimus phase III study shows improved progression-free survival in patients with pNET

bcl3 gene limits lung injury during acute stress from illness, trauma, transplant

Research unmasks long sought stem cell origin of carcinoma

Scientists reprogram marrow cells from patient with chronic myeloid leukemia

UM researchers find genetic cause of retinitis pigmentosa

New study provides insight into mechanism behind breast cancer mutation

Rare new disease identified – calcium accumulates in blood vessels

Study reveals how MMSET gene enables disease-causing mutations to occur

HMORN, iSAEC collaborate to enroll subjects in SAE research project using EMR database

International scientist team identifies gene mutation strongly linked to schizophrenia

Sensing a Healthier Future

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

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