Mutation News and Research

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Scientists aim to decipher language of DNA

Yes, DNA has its own language and scientists want to understand it to apply personalized therapeutic solutions based on the analysis of the individual's genomic biomarkers and their regulation.

24 Jan 2018

Scientists elucidate surprising dual function of ceramide synthase

Scientists at the University of Bonn have clarified a surprising dual function of ceramide synthase. The enzyme not only catalyzes a central step of the production of vital lipids. It also has the ability to turn genes involved in lipid metabolism on or off. The study is being published in the renowned journal Cell Reports.

24 Jan 2018

Researchers use epigenetic signatures to advance diagnosis for neurodevelopmental disorders

Greenwood Genetic Center researchers in collaboration with scientists from Canada have identified unique epigenetic signatures for nine neurodevelopmental disorders lending to a better method of diagnosis for disorders with much clinical overlap.

23 Jan 2018

Scientists take tissue-engineering approach to improve healing related to skeletal system

"Take a knee." "On bended knee." A "knee-slapper." "The bee's knees." The knee certainly carries a lot of weight in the English language, just as it does in the body. As the largest and one of the most complicated joints, the knee is also one of the most easily injured.

23 Jan 2018

JAX researcher receives grant for retinal disease research

The National Eye Institute has awarded Jackson Laboratory Professor Juergen Naggert, Ph.D., a five-year grant totaling $2,187,500 to study genetically controlled breaks in an eye structure known as the external limiting membrane, which could hold the key to understanding and treating enhanced S-cone syndrome and other diseases of the retina.

22 Jan 2018

Researchers develop single blood test that screens for 8 cancer types

Johns Hopkins Kimmel Cancer Center researchers developed a single blood test that screens for eight common cancer types and helps identify the location of the cancer.

19 Jan 2018

Researchers discover potential target genes to halt thyroid cancer progression

Thyroid cancer is a disease with good cure rates in most cases. In 5% of patients, however, the tumor becomes refractory to the available therapies and may spread all over the body, causing death.

19 Jan 2018

$500 cancer detection blood tests may soon become reality

According to latest breakthrough in research, a blood test to detect eight common cancers, even before their symptoms begin to appear, may become a reality soon. The study report appears in the latest issue of the journal Science and gives hope for early detection of these deadly diseases when it could still be treated more effectively.

18 Jan 2018

Study devises efficient and economical strategy to screen breast and ovarian cancer gene mutations

A new study published yesterday in the Journal of the National Cancer Institute suggests that, in comparison with just screening women who are at high risk of carrying breast and ovarian cancer gene mutations, screening the entire population for these mutations will be more cost-effective.

18 Jan 2018

New precision medicine approach for metastatic pancreatic cancer

A three-year grant has been awarded to fund a phase 1b clinical trial of a precision medicine approach to treating metastatic pancreatic cancer.

18 Jan 2018

Research reveals cost-effectiveness of whole-population screening for breast, ovarian cancer gene mutations

Screening the entire population for breast and ovarian cancer gene mutations, as opposed to just those at high-risk of carrying this mutation, is cost effective and could prevent more ovarian and breast cancers than the current clinical approach, according to research published today in the Journal of the National Cancer Institute.

18 Jan 2018

Pretreatment improves outcomes in high-risk stage 3 melanoma, study shows

A pair of targeted therapies given before and after surgery for melanoma produced at least a six-fold increase in time to progression compared to standard-of-care surgery for patients with stage 3 disease, researchers at The University of Texas MD Anderson Cancer Center report in Lancet Oncology.

18 Jan 2018

Study to test new precision medicine approach for metastatic pancreatic cancer

The Lustgarten Foundation has awarded Columbia University's Herbert Irving Comprehensive Cancer Center a three-year grant, as part of its Translational Clinical Program, to test a new precision medicine approach to the treatment of metastatic pancreatic cancer.

18 Jan 2018

Analysis finds overlooked crucial factor in determining prognosis for DIPGs

The prognosis for all children diagnosed with an aggressive brain tumor known as diffuse intrinsic pontine glioma and similar tumors has been mostly the same: dismal.

18 Jan 2018

How fatal mitochondrial diseases may strike offspring of families with no history of the conditions

Researchers from the Medical Research Council (MRC) have discovered how some children inherit a potentially life-threatening mitochondrial disease, despite being born to a healthy mother.

16 Jan 2018

FDA grants approval for first drug to treat inherited breast cancer

The U.S. Food and Drug Administration today expanded the approved use of Lynparza (olaparib tablets) to include the treatment of patients with certain types of breast cancer that have spread (metastasized) and whose tumors have a specific inherited (germline) genetic mutation, making it the first drug in its class (PARP inhibitor) approved to treat breast cancer, and it is the first time any drug has been approved to treat certain patients with metastatic breast cancer who have a "BRCA" gene mutation.

15 Jan 2018

U.S. FDA approves first drug for patients with germline BRCA-mutated metastatic breast cancer

AstraZeneca and Merck, known as MSD outside the United States and Canada, today announced that the U.S. Food and Drug Administration has approved LYNPARZA (olaparib) for use in patients with deleterious or suspected deleterious germline BRCA-mutated (gBRCAm), human epidermal growth factor receptor 2 (HER2)-negative metastatic breast cancer who have been previously treated with chemotherapy in the neoadjuvant, adjuvant or metastatic setting.

12 Jan 2018

Discovery suggests new approach for targeting most-wanted molecular culprits in cancer

A discovery by scientists at Dana-Farber Cancer Institute and University of Texas Southwestern Medical Center presents drug developers with an entirely new tack in targeting one of the most-wanted molecular culprits in cancer.

12 Jan 2018

BRCA gene mutation does not raise the risk of death

BRCA gene mutation has been associated with cancers such as breast cancer. The BRCA gene mutation detection had resulted in a prophylactic double mastectomy for actress Angelina Jolie anticipating cancer. Now a new study has shown that having a BRCA gene mutation and being diagnosed with breast cancer does not raise the risk of death after diagnosis. The study was published in the latest issue of the journal The Lancet Oncology.

11 Jan 2018

Mount Sinai study uncovers potential link between Crohn's and Parkinson's in Jewish population

Mount Sinai Researchers have just discovered that patients in the Ashkenazi Jewish population with Crohn's disease (a chronic inflammatory of the digestive system) are more likely to carry the LRRK2 gene mutation.

11 Jan 2018

Mutation News and Research

Scientists aim to decipher language of DNA

Scientists elucidate surprising dual function of ceramide synthase

Researchers use epigenetic signatures to advance diagnosis for neurodevelopmental disorders

Scientists take tissue-engineering approach to improve healing related to skeletal system

JAX researcher receives grant for retinal disease research

Researchers develop single blood test that screens for 8 cancer types

Researchers discover potential target genes to halt thyroid cancer progression

$500 cancer detection blood tests may soon become reality

Study devises efficient and economical strategy to screen breast and ovarian cancer gene mutations

New precision medicine approach for metastatic pancreatic cancer

Research reveals cost-effectiveness of whole-population screening for breast, ovarian cancer gene mutations

Pretreatment improves outcomes in high-risk stage 3 melanoma, study shows

Study to test new precision medicine approach for metastatic pancreatic cancer

Analysis finds overlooked crucial factor in determining prognosis for DIPGs

How fatal mitochondrial diseases may strike offspring of families with no history of the conditions

FDA grants approval for first drug to treat inherited breast cancer

U.S. FDA approves first drug for patients with germline BRCA-mutated metastatic breast cancer

Discovery suggests new approach for targeting most-wanted molecular culprits in cancer

BRCA gene mutation does not raise the risk of death

Mount Sinai study uncovers potential link between Crohn's and Parkinson's in Jewish population

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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