Mutation News and Research

RSS

PARP inhibitor can be new treatment option for patients with metastatic breast cancer, BRCA mutations

In a randomized, Phase III trial led by researchers at The University of Texas MD Anderson Cancer Center, the PARP inhibitor talazoparib extended progression-free survival (PFS) and improved quality-of-life measures over available chemotherapies for patients with metastatic HER2-negative breast cancer and mutations in the BRCA1/2 genes.

8 Dec 2017

Family members who do not carry inherited mutation have higher risk of melanoma

In families who carry certain inherited mutations that increase the risk for melanoma, members who do not carry the mutation also have an increased risk of melanoma, a study from Karolinska Institutet published in Genetics in Medicine reports.

8 Dec 2017

Research brings scientists one step closer to understanding development of ALS

University of Michigan-led research brings scientists one step closer to understanding the development of neurodegenerative disorders such as ALS.

8 Dec 2017

Gene therapy shows promising effect against blood clots, study states

A new study conducted in the Children's Hospital Of Philadelphia (CHOP) reported positive results in a phase 1/2 clinical trial for the inherited bleeding disorder hemophilia B.

8 Dec 2017

Brazilian researchers identify genes linked to melanoma progression

When researchers at the University of São Paulo in Brazil treated human melanoma cell lines with a synthetic compound similar to curcumin, one of the pigments that give turmeric its orange color, they identified genes with altered expression in potentially invasive tumors and malignant cells resistant to chemotherapy.

6 Dec 2017

Harvard scientists discover hundreds of genetic switches that influence height

It's been understood for decades that a host of factors - everything from pre- and post-natal health, nutrition, and genetics - play a role in determining height, but efforts to untangle the complex web of factors that contribute to height have long been stymied.

6 Dec 2017

DNA sequencing could identify genetic cause of kidney disease

DNA sequencing could soon become part of the routine diagnostic workup for patients with chronic kidney disease, suggests a new study from Columbia University Medical Center.

5 Dec 2017

New treatment aims to target abnormally shaped protein in deadly childhood brain cancer

Children with an extremely deadly form of brain cancer might benefit from a new treatment that aims to direct an immune response against an abnormally shaped protein found exclusively on cancer cells, according to a new study led by UC San Francisco researchers.

4 Dec 2017

Altering genetic mutation could enhance FluMist vaccine’s protective effect

Researchers at Johns Hopkins Bloomberg School of Public Health have discovered a genetic mutation in the FluMist intranasal flu vaccine that has the potential to be altered to enhance the vaccine's protective effect.

30 Nov 2017

INRS researchers evaluate how chemotherapy among men affects health of future generations

How do cancer and cancer treatments affect the reproductive function of men? Can this affect the health of their direct descendants and subsequent generations? To get a clear picture, INRS researchers evaluate the current state of knowledge on this public health issue in a review article appearing in the journal Gynécologie Obstétrique & Fertilité.

30 Nov 2017

UT Southwestern researchers develop improved gene-editing technique to correct DMD mutations

Regenerative medicine researchers at UT Southwestern Medical Center developed an improved and simplified gene-editing technique using CRISPR/Cas9 tools to correct a common mutation that causes Duchenne muscular dystrophy.

30 Nov 2017

Researchers unlock genetic processes underlying cancer

For many, breast cancer is more than just a disease – it's personal. One in eight women will be diagnosed with breast cancer at some point in their lives. But through new discoveries at the genetic level, the personal nature of cancer will eventually be what helps to beat it.

29 Nov 2017

FSU researchers solve puzzle posed by family of rare premature aging disorders

New research from Florida State University is beginning to piece together the stubborn puzzle posed by a family of rare and debilitating premature aging disorders.

28 Nov 2017

Reducing use of antibiotics not sufficient to reverse drug resistance

Researchers have discovered that reducing the use of antibiotics will not be enough to reverse the growing prevalence of antibiotic resistance for some types of bacteria.

22 Nov 2017

Research findings offer prime drug targets to treat rare liver cancer that strikes young people

After years of rigorous research, a team of scientists has identified the genetic engine that drives a rare form of liver cancer. The findings offer prime targets for drugs to treat the usually lethal disease, fibrolamellar hepatocellular carcinoma (FL-HCC), which mainly strikes adolescents and young adults.

22 Nov 2017

Drug could be repurposed to help end transplant rejection

A diabetes drug currently undergoing development could be repurposed to help end transplant rejection, without the side-effects of current immunosuppressive drugs, according to new research by Queen Mary University of London.

21 Nov 2017

Liver disease in children with Alagille Syndrome caused by malformations of bile ducts

Serious liver and heart problems can affect children with Alagille Syndrome early in life. While there is as yet no cure, researchers at Karolinska Institutet in Sweden have discovered that the liver disease part of the syndrome is caused by specific malformations of the bile ducts.

21 Nov 2017

Study explores feasibility of mainstreaming genetic counseling for ovarian cancer

A study that looked at mainstreaming genetic counseling for ovarian cancer to support screening programs in Malaysia was presented at the ESMO Asia 2017 Congress.

20 Nov 2017

Amish people live longer due to mutation in blood clotting gene

Scientists have stumbled upon a genetic mutation that is found among the Indiana Amish community people that leads to impaired or defective blood clotting but predicts a longer life span for them. The study was published this week in Science Advances.

19 Nov 2017

Researchers uncover mechanism that contributes to patterns of degeneration in AD

Alzheimer's disease (AD) is known to cause memory loss and cognitive decline, but other functions of the brain can remain intact.

17 Nov 2017

Mutation News and Research

PARP inhibitor can be new treatment option for patients with metastatic breast cancer, BRCA mutations

Family members who do not carry inherited mutation have higher risk of melanoma

Research brings scientists one step closer to understanding development of ALS

Gene therapy shows promising effect against blood clots, study states

Brazilian researchers identify genes linked to melanoma progression

Harvard scientists discover hundreds of genetic switches that influence height

DNA sequencing could identify genetic cause of kidney disease

New treatment aims to target abnormally shaped protein in deadly childhood brain cancer

Altering genetic mutation could enhance FluMist vaccine’s protective effect

INRS researchers evaluate how chemotherapy among men affects health of future generations

UT Southwestern researchers develop improved gene-editing technique to correct DMD mutations

Researchers unlock genetic processes underlying cancer

FSU researchers solve puzzle posed by family of rare premature aging disorders

Reducing use of antibiotics not sufficient to reverse drug resistance

Research findings offer prime drug targets to treat rare liver cancer that strikes young people

Drug could be repurposed to help end transplant rejection

Liver disease in children with Alagille Syndrome caused by malformations of bile ducts

Study explores feasibility of mainstreaming genetic counseling for ovarian cancer

Amish people live longer due to mutation in blood clotting gene

Researchers uncover mechanism that contributes to patterns of degeneration in AD

Event guide: 4th Extra-Hepatic Lipid-Based Nanoparticles Delivery Summit eBook

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

Latest News