Mutation News and Research

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Findings may open up new ways to treat dwarfism and other ER-stress-related conditions

Pseudoachondroplasia (PSACH) is a severe inherited dwarfing condition characterized by disproportionate short stature, joint laxity, pain, and early onset osteoarthritis.

12 Dec 2018

New computer model predicts prostate cancer progression

An international team of cancer researchers from Denmark and Germany have used cancer patient data to develop a computer model that can predict the course of disease for prostate cancer.

11 Dec 2018

New diagnostic tools may help identify breast cancer patients who could benefit from targeted therapies

A set of emerging diagnostic tools may help identify breast cancer patients who are most likely to benefit from therapies that target important enzymes fueling a range of subtypes, including BCRA-mutated and triple negative cancers.

7 Dec 2018

New way to trace the transmission histories of rare genetic diseases

There are only 25 people in the whole of Quebec at the moment who have a rare recessive genetic disease called chronic atrial and intestinal dysrhythmia. Now, scientists have begun tracing the origins of these diseases.

6 Dec 2018

New massive sequencing platform implemented for double factor preimplantation genetic testing

A research team from the Universitat Autònoma de Barcelona, in collaboration with the Blood and Tissue Bank of Catalonia, has managed to implement a massive sequencing platform for Preimplantation Genetic Testing for the first time in history.

5 Dec 2018

Researchers find evidence of epigenetics in single-celled archaea

Researchers have found evidence of epigenetics-based evolution in a species of archaea, our oldest single-cell ancestors.

5 Dec 2018

Selective survival of embryos under adverse conditions may explain health problems later in life

An international team led by researchers of the Leiden University Medical Center and Lund University in Sweden propose that selection of random epigenetic differences causes particular embryos to survive under adverse conditions in the womb.

4 Dec 2018

Brown researchers awarded $12 million NIH grant renewal to explore fundamentals of brain function

Brown University's Center for Central Nervous System Function, part of the Carney Institute for Brain Science, has been awarded a $12 million grant renewal from the National Institutes of Health's Centers of Biomedical Research Excellence program.

3 Dec 2018

Genetic relic of the 'Black Death' may provide clues for treating fatal liver scarring

A gene mutation that is believed to have safeguarded some people in 14th century Europe from the bubonic plague today may be protecting HIV patients co-infected with hepatitis C from potentially fatal liver scarring, says a University of Cincinnati College of Medicine physician-scientist.

3 Dec 2018

Researchers uncover genes that lead to excessive tau in dementia

Researchers have identified two major groups of genes involved in the mutations that lead to excess production of tau, a protein involved in dementia.

3 Dec 2018

Research highlights ability of Bio-Rad's ddPCR in quantifying minimal residual disease

More than 30 abstracts presented at the 60th American Society of Hematology Annual Meeting & Exposition in San Diego, December 1-4, featured research highlighting the ability of Bio-Rad's Droplet Digital PCR to provide high sensitivity and accuracy in quantifying minimal residual disease -- those remaining cancer cells after therapy that are associated with relapse -- in blood diseases such as leukemia.

3 Dec 2018

Daily hydroxyurea treatment may bring some relief for African children with sickle cell anemia

A daily hydroxyurea pill may finally bring some relief for young children living with the painful and deadly blood disease sickle cell anemia in resource-challenged sub-Saharan Africa, where the disease is prevalent and health care availability is suboptimal.

3 Dec 2018

National Institutes of Health awards grant to MSU professors for research on neurodegenerative disease

A research collaboration between three Montana State University faculty members recently received a grant to help fund their study on the connection between a rare genetic neurological disease and metabolism, the human gut microbiome and degeneration of the nervous system.

30 Nov 2018

New Mainz-based Collaborative Research Center aims to explore DNA repair and genome stability

From January 1, 2019, the German Research Foundation will be funding the new Collaborative Research Center 1361 on Regulation of DNA Repair & Genome Stability.

29 Nov 2018

DNA mutations in healthy and leukemic blood stem cells do not differ, shows research

Researchers from the Princess Máxima Center for Pediatric Oncology have shown that the number of mutations in healthy and leukemic blood stem cells does not differ.

29 Nov 2018

Revolutionary new technology sheds light on why cancers form in specific cell types

While many cells in our bodies can accumulate oncogenic mutations, the majority of these events do not lead to tumor formation as these abnormal cells are eliminated by defense mechanisms.

29 Nov 2018

Lifestyle intervention can benefit obese children despite common gene variants

Children who are genetically predisposed to overweight, due to common gene variants, can still lose weight by changing their diet and exercise habits.

29 Nov 2018

Study uncovers new chemical reaction key to cataract formation

Researchers working to understand the biochemistry of cataract formation have made a surprising finding: A protein that was long believed to be inert actually has an important chemical function that protects the lens of the eye from cataract formation.

28 Nov 2018

Research reveals how a small molecule helps remove excess cholesterol

Scientists have determined the structure of the activated form of an enzyme that helps to return excess cholesterol to the liver, a study in eLife reports.

27 Nov 2018

Research may pave way for development of potent weapons against cancer

Despite significant advances in cancer research, the disease continues to exact a devastating toll. Because cancer is a disease of the body's own cells, which mutate and develop under evolutionary pressure, conventional treatments like chemotherapy and radiation often leave behind a residue of resistant cells that go on to expand and wreak havoc.

27 Nov 2018

Mutation News and Research

Findings may open up new ways to treat dwarfism and other ER-stress-related conditions

New computer model predicts prostate cancer progression

New diagnostic tools may help identify breast cancer patients who could benefit from targeted therapies

New way to trace the transmission histories of rare genetic diseases

New massive sequencing platform implemented for double factor preimplantation genetic testing

Researchers find evidence of epigenetics in single-celled archaea

Selective survival of embryos under adverse conditions may explain health problems later in life

Brown researchers awarded $12 million NIH grant renewal to explore fundamentals of brain function

Genetic relic of the 'Black Death' may provide clues for treating fatal liver scarring

Researchers uncover genes that lead to excessive tau in dementia

Research highlights ability of Bio-Rad's ddPCR in quantifying minimal residual disease

Daily hydroxyurea treatment may bring some relief for African children with sickle cell anemia

National Institutes of Health awards grant to MSU professors for research on neurodegenerative disease

New Mainz-based Collaborative Research Center aims to explore DNA repair and genome stability

DNA mutations in healthy and leukemic blood stem cells do not differ, shows research

Revolutionary new technology sheds light on why cancers form in specific cell types

Lifestyle intervention can benefit obese children despite common gene variants

Study uncovers new chemical reaction key to cataract formation

Research reveals how a small molecule helps remove excess cholesterol

Research may pave way for development of potent weapons against cancer

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

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