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Finnish researchers discover gene mutation that reduces fear, anxiety and increases social interaction

Finnish researchers at the University of Eastern Finland and the University of Oulu have discovered of a new type of gene mutation that reduces fear and anxiety, and increases social interaction.

3 May 2019

Biomarker may help predict first treatment option for metastatic colorectal cancer patients

Foundational research by a City of Hope physician-scientist and his colleagues could one day help metastatic colorectal cancer patients decide whether to choose immunotherapy or chemotherapy as their first treatment option.

2 May 2019

$150,000 grant will support research on spinal muscular atrophy

EL PASO, Texas-Cure SMA recently awarded a $150,000 research grant to Laxman Gangwani, Ph.D., associate professor of Molecular and Translational Medicine, Center of Emphasis in Neurosciences, at TTUHSC El Paso's Paul L. Foster School of Medicine.

2 May 2019

Sussex scientists discover new genetic defect that causes intellectual disability

Researchers at the University of Sussex have discovered a new genetic defect which causes a form of intellectual disability; a finding that will improve screening programmes and help to end a 'diagnostic odyssey' for families across the globe.

1 May 2019

Researchers identify 34 genes associated with increased risk of ovarian cancer

A team of researchers at UCLA's Jonsson Comprehensive Cancer, Cedars-Sinai Cancer and Dana-Farber Cancer Institute have newly identified 34 genes that are associated with an increased risk for developing the earliest stages of ovarian cancer.

1 May 2019

Study provides potential new targets for treating epilepsy

A new study provides potential new targets for treating epilepsy and new fundamental insights into the relationship between neurons and their glial "helper" cells.

30 Apr 2019

Sleep problems in autism may be linked to gene mutation

Up to 80 percent of children with autism spectrum disorder experience sleep problems.

29 Apr 2019

Study identifies antigens targeted by antibody response to Kawasaki Disease

A new study identifies antigens targeted by the antibody response of children with Kawasaki Disease.

29 Apr 2019

Researchers use genomics to solve a 20-year case study

After 20 years, a patient's family received an answer to a decades-long genetic mystery. Their daughter had two rare disorders, Angelman syndrome and P450scc deficiency, which was detected after researchers found out she had uniparental disomy, two copies of chromosome 15 from one parent and none from another.

28 Apr 2019

TET proteins help regulate gene activity vital for normal antibody production

A family of cancer suppressive proteins, known as TET proteins, help regulate gene activity via their influence on chromosomal architecture. However, until now it wasn't entirely clear how genes were activated by TET proteins to make sure that cells perform their normal functions efficiently.

27 Apr 2019

Genetic mutations in brain development lead to discovery of rare genetic diseases

Mutations in a gene involved in brain development have led to the discovery of two new neurodevelopmental diseases by an international team led by researchers at McGill University and CHU Sainte-Justine Research Center.

26 Apr 2019

New genetic test identifies many disease-causing gene variations in high-risk populations

Researchers at Nemours Children's Health System have developed a new low-cost genetic test that accurately identified more than 200 known disease-causing gene variations in two high-risk populations, the Old Order Amish and Old Order Mennonites of Lancaster County, Pennsylvania.

25 Apr 2019

Myelination deficits cause abnormal hypersocial behavior associated with Williams syndrome

A new Tel Aviv University study finds that gene deletion or deficiency in neurons is responsible for the abnormal hypersocial behavior associated with Williams syndrome, a rare disorder affecting 1 in 10,000 people around the world.

24 Apr 2019

Study provides new insights into regulatory T cells' role in protecting against autoimmune disease

An international study led from Karolinska Institutet provides new insights into the regulatory T cells' role in protecting against autoimmune disease.

23 Apr 2019

Treating cancer patients with personalized, combination therapies improves outcomes

Precision oncology often relies on treating patients with a single, molecularly matched therapy that targets one mutation in their tumor.

23 Apr 2019

Scientists identify 104 high-risk genes for schizophrenia

Using a unique computational "framework" they developed, a team of scientist cyber-sleuths in the Vanderbilt University Department of Molecular Physiology and Biophysics and the Vanderbilt Genetics Institute has identified 104 high-risk genes for schizophrenia.

23 Apr 2019

Potential of liquid biopsy in cancer biomarker detection and prenatal testing

The promise and challenges of liquid biopsy, an emerging, noninvasive method for targeted disease diagnosis and detection of cancer biomarkers to enable improved and personalized therapy, is the focus of a new special issue of Genetic Testing and Molecular Biomarkers, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers.

22 Apr 2019

Mutation News and Research

Finnish researchers discover gene mutation that reduces fear, anxiety and increases social interaction

Biomarker may help predict first treatment option for metastatic colorectal cancer patients

$150,000 grant will support research on spinal muscular atrophy

Sussex scientists discover new genetic defect that causes intellectual disability

Researchers identify 34 genes associated with increased risk of ovarian cancer

Study provides potential new targets for treating epilepsy

Sleep problems in autism may be linked to gene mutation

Study identifies antigens targeted by antibody response to Kawasaki Disease

Researchers use genomics to solve a 20-year case study

TET proteins help regulate gene activity vital for normal antibody production

Genetic mutations in brain development lead to discovery of rare genetic diseases

New genetic test identifies many disease-causing gene variations in high-risk populations

Myelination deficits cause abnormal hypersocial behavior associated with Williams syndrome

Study provides new insights into regulatory T cells' role in protecting against autoimmune disease

Treating cancer patients with personalized, combination therapies improves outcomes

Scientists identify 104 high-risk genes for schizophrenia

Potential of liquid biopsy in cancer biomarker detection and prenatal testing

Research uncovers critical RNA processing aberrations in ALS and FTD

Researchers identify key clues to brain and pancreas development

New gene therapy cures babies with fatal 'Bubble Boy' disease

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

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