Mutation News and Research

RSS

Preclinical data of Ocugen's OCU400 genetic modifier published in Nature Gene Therapy

Ocugen, Inc., a clinical-stage company focused on discovering, developing and commercializing transformative therapies to treat rare and underserved ophthalmic diseases, announced today the publication in Nature Gene Therapy of preclinical data of nuclear hormone receptor gene NR2E3 as a genetic modifier and therapeutic agent to treat multiple retinal degenerative diseases.

3 Mar 2020

Two common Staph bacteria living on human skin exacerbate Netherton syndrome

Netherton syndrome, a rare skin disease caused by a single genetic mutation, is exacerbated by the presence of two common Staphylococcal bacteria living on human skin, one of which was previously thought to only offer protective properties, report University of California San Diego School of Medicine researchers.

3 Mar 2020

Mayo study recommends genetic testing to all women diagnosed with breast cancer under the age of 66

A study by researchers at Mayo Clinic published this week in the Journal of Clinical Oncology suggests that all women with a breast cancer diagnosis under the age of 66 be offered germline genetic testing to determine if they have a gene mutation known to increase the risk of developing other cancers and cancers among blood relatives.

2 Mar 2020

New genetic tool developed to label specific genes in human organoids

Researchers from the group of Hans Clevers at the Hubrecht Institute have developed a new genetic tool to label specific genes in human organoids, or mini organs.

2 Mar 2020

Gene therapy regenerates functional new neurons in mouse models of HD

Huntington's disease (HD) is a rare disease characterized by abnormal chorea movement and caused by Huntingtin (Htt) gene mutation and neurodegeneration in a brain area called striatum.

28 Feb 2020

Gene-editing technology may lead to new model for studying Parkinson’s disease

Parkinson's disease researchers have used gene-editing tools to introduce the disorder's most common genetic mutation into marmoset monkey stem cells and to successfully tamp down cellular chemistry that often goes awry in Parkinson's patients.

27 Feb 2020

Cancer chemical from common gut microbe

Many common gut bacteria carry cancer-causing mutations, says a new study published in the journal Nature on the 27th February 2020.

27 Feb 2020

Scientists reveal ability to reverse Huntington's disease-causing DNA repeat mutations in the lab

Neurodegenerative diseases, like Huntington's disease and myotonic dystrophy, are often referred to as DNA repeat diseases, named because of long repeated sequences in the DNA of patients. Increasing repeat expansion length in the affected tissues contribute to earlier age of disease onset and worsen the progression and severity of the disease over time.

27 Feb 2020

Drug used for breast, renal cancers may provide survival benefit for patients with head and neck cancers

A targeted therapy drug used for breast and kidney cancers may also extend progression-free survival for patients with advanced head and neck cancer who are at high risk for recurrence after standard treatment.

27 Feb 2020

Study reveals the effects of pre-surgical chemotherapy on breast cancer genome

Results from one of the first studies to determine the effects of pre-surgical, or neoadjuvant, chemotherapy on the breast cancer genome offer up two key insights.

26 Feb 2020

Study contributes to better understanding of rare KAT6A syndrome

A research team has described five new cases of a rare disease -known as KAT6A syndrome- of which there are only eighty dominant cases worldwide.

26 Feb 2020

New form of gene editing slows ALS progression in mice

With a new CRISPR gene-editing methodology, scientists from the University of Illinois at Urbana-Champaign inactivated one of the genes responsible for an inherited form of amyotrophic lateral sclerosis - a debilitating and fatal neurological disease for which there is no cure.

26 Feb 2020

HKUST scientists provide leads for guiding research towards COVID-19 vaccine development

A team of scientists at the Hong Kong University of Science and Technology (HKUST) has recently made an important discovery in identifying a set of potential vaccine targets for the SARS-CoV-2 coronavirus, providing crucial leads for guiding experimental efforts towards the vaccine development against the novel pneumonia (COVID-19) caused by the virus.

26 Feb 2020

Biomarkers in blood samples can predict clinical response to immunotherapy in metastatic NSCLC

Non-small cell lung cancer patients with higher measures of tumor mutations that show up in a blood test generally have a better clinical response to PD-1-based immunotherapy treatments than patients with a lower measure of mutations.

26 Feb 2020

Gene-editing is more error-prone than thought, new findings suggest

The standard gene-editing tool, CRISPR-Cas9, frequently produces a type of DNA mutation that ordinary genetic analysis misses, claims new research published in the journal Proceedings of the National Academy of Sciences.

26 Feb 2020

Researchers uncover how cancer cells override environmental cues to consume energy

Using human lung cancer cells, UT Southwestern researchers have uncovered how cells in general modulate their energy consumption based on their surroundings and, furthermore, how cancer cells override those cues to maximize energy use.

24 Feb 2020

DNA topological problems may cause lymphoma, study shows

Researchers from the Spanish National Cancer Research Centre, Madrid, and the Andalusian Molecular Biology and Regenerative Medicine Centre, Seville, published today a paper in Nature Communications that shows that DNA topological problems may cause endogenous DNA breaks that have a causal relationship with cancer.

24 Feb 2020

Inflammation caused by radiation can promote survival of triple-negative breast cancer cells

While radiation is successfully used to treat breast cancer by killing cancer cells, inflammation caused as a side-effect of radiation can have a contrary effect by promoting the survival of triple-negative breast cancer cells, according to research published online in the International Journal of Radiation Biology by Jennifer Sims-Mourtada, Ph.D., director of Translational Breast Cancer Research at ChristianaCare's Helen F. Graham Cancer Center & Research Institute.

24 Feb 2020

UCI makes tremendous strides in prevention, early detection and treatment of cancer

Like most people, John Gifford wasn't looking forward to a colonoscopy when he arrived on the UCI Medical Center campus in Orange in 2018.

23 Feb 2020

A step towards precision medicine for the management of monogenic diabetes

Diabetes affects more than 400 million people worldwide and is a major public health problem. Although commonly referred to as a single disease, it actually constitutes a group of metabolic disorders with hyperglycemia as a common feature. Of all its forms, monogenic diabetes - due to a mutation in one of the genes involved in the management of blood sugar levels - affects 1% to 4% of all cases of diabetes.

22 Feb 2020

Mutation News and Research

Preclinical data of Ocugen's OCU400 genetic modifier published in Nature Gene Therapy

Two common Staph bacteria living on human skin exacerbate Netherton syndrome

Mayo study recommends genetic testing to all women diagnosed with breast cancer under the age of 66

New genetic tool developed to label specific genes in human organoids

Gene therapy regenerates functional new neurons in mouse models of HD

Gene-editing technology may lead to new model for studying Parkinson’s disease

Cancer chemical from common gut microbe

Scientists reveal ability to reverse Huntington's disease-causing DNA repeat mutations in the lab

Drug used for breast, renal cancers may provide survival benefit for patients with head and neck cancers

Study reveals the effects of pre-surgical chemotherapy on breast cancer genome

Study contributes to better understanding of rare KAT6A syndrome

New form of gene editing slows ALS progression in mice

HKUST scientists provide leads for guiding research towards COVID-19 vaccine development

Biomarkers in blood samples can predict clinical response to immunotherapy in metastatic NSCLC

Gene-editing is more error-prone than thought, new findings suggest

Researchers uncover how cancer cells override environmental cues to consume energy

DNA topological problems may cause lymphoma, study shows

Inflammation caused by radiation can promote survival of triple-negative breast cancer cells

UCI makes tremendous strides in prevention, early detection and treatment of cancer

A step towards precision medicine for the management of monogenic diabetes

Industry Focus eBook - Neurology/Neuroscience - 2nd edition eBook

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

Latest News