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Differences in mitochondrial DNA determine severity of heart disease caused by nDNA mutation

Differences in the DNA within the mitochondria, the energy-producing structures within cells, can determine the severity and progression of heart disease caused by a nuclear DNA mutation.

12 Sep 2018

Scientists develop first DNA-based test for predicting risk of leukemia relapse

A group of Canadian and Korean scientists and physicians have developed the first DNA-based test that allows them to tell which patients will relapse after receiving chemotherapy and a bone marrow transplant, for their acute myeloid leukemia, or AML.

11 Sep 2018

Effects of cancer-causing KRAS mutations more diverse than thought, shows study

The effects of KRAS mutations underlying many different types of cancer are more diverse than previously thought, according to a new study led by the University of Eastern Finland.

11 Sep 2018

Researchers uncover secret of immortality mechanism in aggressive glioblastoma

UC San Francisco researchers have discovered how a mutation in a gene regulator called the TERT promoter -- the third most common mutation among all human cancers and the most common mutation in the deadly brain cancer glioblastoma -- confers "immortality" on tumor cells, enabling the unchecked cell division that powers their aggressive growth.

10 Sep 2018

Individualized therapies targeting specific features show promise in transforming cancer treatment

Individualized therapies that target the specific genetic features of tumors have the potential to transform cancer diagnosis, treatment and care.

10 Sep 2018

Family genetic background essential for understanding autism progression

Whether an individual develops a neurodevelopmental disorder like autism or ADHD and the severity of that disorder depends on genetic changes beyond a single supposedly disease-causing mutation.

7 Sep 2018

VTCRI scientist receives new federal grant for research into a heart mutation

Steven Poelzing, an associate professor at the Virginia Tech Carilion Research Institute, has received a new five-year grant from the National Heart, Lung, and Blood Institute of the National Institutes of Health.

7 Sep 2018

New diagnostic tool for difficult-to-detect cancers

A new diagnostic tool is expected to result in better treatment of cancer that is difficult to diagnose. The tool was developed by cancer researchers at Sahlgrenska Academy and doctors at the Sahlgrenska University Hospital, Sweden. Their study, which has been published in JCO Precision Oncology, started with a single cancer patient.

6 Sep 2018

Huntington's disease may take effect much earlier in life than previously believed, study suggests

A new study published in the Proceedings of the National Academy of Sciences suggests that Huntington's disease may take effect much earlier in life than was previously believed, and that a new drug may be key in controlling the disease.

5 Sep 2018

Scientists discover ALS disease mechanism

A mechanism for how the disease ALS evolves has been discovered at Umeå University, Sweden. The discovery concerns how proteins with a defect structure spread the deformation to other proteins. This according to results in a new thesis.

4 Sep 2018

Study sheds light on how vaso-occlusive pain crises arise in sickle-cell disease

One of the most common complications of sickle-cell disease occurs when deformed red blood cells clump together, blocking tiny blood vessels and causing severe pain and swelling in the affected body parts.

4 Sep 2018

Genetic mutations may drive tumor formation by blurring growth signals

Genetic mutations in a form of non-small cell lung cancer (NSCLC) may drive tumor formation by blurring cells' perception of key growth signals, according to a new laboratory study published August 31, 2018 in Science.

3 Sep 2018

Novel method using big data tools shows promising routes for research

A group of researchers affiliated to the University of São Paulo - campus Ribeirão Preto, Brazil, used big data tools such as data mining and network analysis to develop a method to help scientists and companies identify technological routes, trends and partnerships in any knowledge area. For this purpose, it collected information from patent databases around the world.

3 Sep 2018

Researchers predict how splicing errors impact disease risk

No one knows how many times in a day, or even an hour, the trillions of cells in our body need to make proteins.

31 Aug 2018

New genetic marker could improve diagnosis of prostate cancer

Scientists have discovered a link between certain genetic mutations, the aggressiveness of prostate cancer, risk of developing the disease and poorer survival rates of patients.

30 Aug 2018

Pfizer terminates clinical studies evaluating domagrozumab for treatment of Duchenne muscular dystrophy

Pfizer Inc. announced today that it is terminating two ongoing clinical studies evaluating domagrozumab (PF-06252616) for the treatment of Duchenne muscular dystrophy (DMD): a Phase 2 safety and efficacy study (B5161002) and an open-label extension study (B5161004).

30 Aug 2018

EC grants marketing authorization for ONPATTRO (patisiran) in Europe

Alnylam Pharmaceuticals, Inc., the leading RNAi therapeutics company, announced today that the European Commission (EC) has granted marketing authorization for ONPATTRO (patisiran) for the treatment of hereditary transthyretin-mediated (hATTR) amyloidosis in adults with stage 1 or stage 2 polyneuropathy.

30 Aug 2018

Researchers find how NF2 gene mutations lead to out-of-control cellular proliferation

A team of Massachusetts General Hospital Cancer Center researchers has determined one way that mutations in a gene involved in a rare, hereditary cancer syndrome lead to out-of-control cellular proliferation.

29 Aug 2018

Pediatric researchers discover gene mutation that causes lymphatic disorder

Pediatric researchers have identified a gene mutation that causes a serious lymphatic condition, and used that knowledge to restore normal lymphatic vessels in model animals. The laboratory findings may lead to a new therapy for patients with this type of abnormal lymphatic circulation.

28 Aug 2018

Tips to know your ovarian cancer risk and symptoms

Ovarian cancer is the fifth leading cause of death in American women, according to the American Cancer Society, and accounts for more deaths than any other cancer of the female reproductive system. And according to the National Cancer Institute, approximately 22,240 women will be diagnosed with the disease in 2018; 14,070 will die from it.

28 Aug 2018