Mutation News and Research

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Study may help develop new immunotherapies for different types of tumors

A team of researchers have plotted the genes that enable cancer cells to avoid being destroyed by the immune system.

From University of Toronto 25 Sep 2020

Study identifies genetic mutation linked with fibromuscular dysplasia

Understanding of fibromuscular dysplasia (FMD), a rare blood vessel disease, is making the jump from the laboratory to the clinic with new findings about a genetic variant.

25 Sep 2020

Computational model effectively identifies genetic mutations in breast tumors

Researchers at Lund University in Sweden have developed a computational model which is effective in detecting and identifying genetic mutations in breast tumors. The study, the largest of its kind in the world, includes results from over 3 200 patients with breast cancer.

25 Sep 2020

Researchers discover novel genes for human deafness in Israeli families

Until now, seven genes were known to be involved in hearing loss in Israel's Jewish population. A new study led by Zippora Brownstein, PhD, and Prof. Karen Avraham from the Sackler Faculty of Medicine at Tel Aviv University has found that 32 genes are responsible for inherited hearing loss in Israeli Jewish families.

24 Sep 2020

UB biophysicist receives $2 million NIH grant to explore protein-RNA droplets

Inside human cells, proteins and RNA can cluster together to form spherical droplets that play vital roles in cellular processes as well as in certain human diseases.

23 Sep 2020

New insight into how people with retinal degenerative disease can maintain night vision

New insight on how people with retinal degenerative disease can maintain their night vision for a relatively long period of time has been published today in the open-access eLife journal.

23 Sep 2020

Genetic differences between domesticated and wild chickens linked to epigenetic changes

Some of the genetic differences that have arisen between domesticated chickens and their wild ancestors, the red junglefowl, are linked to epigenetic changes, according to a new study published in Nature Ecology & Evolution.

22 Sep 2020

Human genetics: New insights into our own biology

Who are we? Where did we come from? How did we get here? Throughout the ages, humans have sought answers to these questions, pursuing wisdom through religion, philosophy, and eventually science.

21 Sep 2020

Study pinpoints specific protein involved in the mass production of antibodies

A team of researchers has discovered how a specific protein called JAGN1 plays a crucial role in the production of antibodies.

17 Sep 2020

Epigenetic defects in the human genome cause genetic disorders

A study has demonstrated that epigenetic defects in the human genome are common and occur in an unlimited number of genes that lead to genetic disorders.

17 Sep 2020

Researchers unravel the molecular basis underlying colorectal cancer

A team of scientists has unraveled the molecular mechanism behind one of the causes of colorectal cancer, and a treatment target.

15 Sep 2020

Study pinpoints specific genes that cause ovarian cancer

High-grade serious ovarian carcinoma is the fifth major cause of cancer-associated deaths in women in the United States.

14 Sep 2020

In-depth study of kidney tumors reveals novel markers of response to immunotherapy

Treatments for kidney cancer have improved considerably over the past few decades. In 1988, when Memorial Sloan Kettering oncologist Robert Motzer started researching the disease, the average survival was less than one year.

9 Sep 2020

Study highlights the role of brain astrocyte cells in Parkinson's disease pathology

A new study using induced pluripotent stem cell (iPSC) technology links astrocyte dysfunction to Parkinson's disease (PD) pathology.

9 Sep 2020

Researchers establish new consortium to study the effect of mutations on the blood characteristics

A team of researchers has established an international consortium to analyze the blood of scores of people across the globe.

7 Sep 2020

Researchers develop new gene therapy for congenital blindness

Retinitis pigmentosa is the most prevalent form of congenital blindness. Using a retinitis pigmentosa mouse model, researchers from Ludwig-Maximilians Universitaet (LMU) in Munich have now shown that targeted activation of genes of similar function can compensate for the primary defect.

3 Sep 2020

Mutation News and Research

Study may help develop new immunotherapies for different types of tumors

Study identifies genetic mutation linked with fibromuscular dysplasia

Computational model effectively identifies genetic mutations in breast tumors

Researchers discover novel genes for human deafness in Israeli families

UB biophysicist receives $2 million NIH grant to explore protein-RNA droplets

New insight into how people with retinal degenerative disease can maintain night vision

Genetic differences between domesticated and wild chickens linked to epigenetic changes

Human genetics: New insights into our own biology

Study pinpoints specific protein involved in the mass production of antibodies

Epigenetic defects in the human genome cause genetic disorders

Researchers unravel the molecular basis underlying colorectal cancer

Study pinpoints specific genes that cause ovarian cancer

In-depth study of kidney tumors reveals novel markers of response to immunotherapy

Study highlights the role of brain astrocyte cells in Parkinson's disease pathology

Researchers establish new consortium to study the effect of mutations on the blood characteristics

Researchers develop new gene therapy for congenital blindness

Study shows misfiring brain cells can create swallowing problems in children with neurodevelopmental disorders

New method accurately detects single gene mutation in a pool of 10,000 cells

Researchers explore the structure and dynamics of biological nanomachine

Largely ignored 'housekeeping' gene plays unexpected role in neurological diseases

Driving Support for Pharmaceutical Testing Through Continuous Innovation

From Memory to Metaplasticity: Unraveling the Brain's Secrets

Revolutionizing Mass Spectrometry: A Deep Dive into Plasmion’s SICRIT® Technology

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