Mutation News and Research

RSS

Scientists identify first gene linked to childhood-onset familial dilated cardiomyopathy

Scientists at Icahn School of Medicine at Mount Sinai, along with collaborators at institutions in India, Italy, and Japan, have identified the first gene linked to childhood-onset familial dilated cardiomyopathy (DCM), one of the most common heart muscle diseases in children.

29 Apr 2014

Study: Mutations could have major impact on treatment of human blood diseases

A study published today in Nature Genetics has revealed mutations that could have a major impact on the future diagnosis and treatment of many human diseases.

29 Apr 2014

BRCA gene loss may accelerate cancer-promoting chromosome rearrangements

Inherited mutations in the BRCA1 or BRCA2 tumor suppressor genes are by far the most frequent contributors to hereditary cancer risk in the human population, often causing breast or ovarian cancer in young women of child-bearing age.

29 Apr 2014

Finnish researchers discover gene mutation in ameloblastoma

A Finnish team of researchers was the first in the world to discover a gene mutation in ameloblastoma, which is a tumour of the jaw.

26 Apr 2014

University of Michigan scientists uncover how cells block mutation-causing activity of junk DNA

There's a civil war going on inside every one of the 37 trillion cells in your body. Now, University of Michigan scientists have uncovered how your cells keep this war from causing too much collateral damage.

26 Apr 2014

Study could lead to better understanding of how Notch protein directs healthy development of organs

Johns Hopkins researchers report they have figured out how the aptly named protein Botch blocks the signaling protein called Notch, which helps regulate development. In a report on the discovery, to appear online April 24 in the journal Cell Reports, the scientists say they expect the work to lead to a better understanding of how a single protein, Notch, directs actions needed for the healthy development of organs as diverse as brains and kidneys.

26 Apr 2014

MGH investigators develop next-generation genome editing system

A next-generation genome editing system developed by Massachusetts General Hospital investigators substantially decreases the risk of producing unwanted, off-target gene mutations. In a paper receiving online publication in Nature Biotechnology, the researchers report a new CRISPR-based RNA-guided nuclease technology that uses two guide RNAs, significantly reducing the chance of cutting through DNA strands at mismatched sites.

26 Apr 2014

SFU researchers trace evolution of HIV in North America

A study tracing the evolution of HIV in North America involving researchers at Simon Fraser University has found evidence that the virus is slowly adapting over time to its human hosts. However, this change is so gradual that it is unlikely to have an impact on vaccine design.

26 Apr 2014

Promising new approach targets cancer protein to slow tumor growth

Sometimes a full-on assault isn't the best approach when dealing with a powerful enemy. A more effective approach, in the long run, may be to target the support system replenishing the supplies that keep your foe strong and ready for battle.

26 Apr 2014

Researcher to recieve 2014 EMBO Gold Medal at FEBS-EMBO Meeting

EMBO today announced Sophie Martin of the University of Lausanne, Switzerland, as the winner of the 2014 EMBO Gold Medal. The award acknowledges her work to understand the molecular events that define the organization and development of the cell.

25 Apr 2014

Studies report new genetic disorder associated with degeneration of central/peripheral nervous systems

A newly identified genetic disorder associated with degeneration of the central and peripheral nervous systems in humans, along with the genetic cause, is reported in the April 24, 2014 issue of Cell.

25 Apr 2014

Study shows effect of whooping cough vaccination on Bordetella pertussis bacteria

The most comprehensive study to date of the family of bacteria that causes whooping cough points to more effective vaccine strategies and reveals surprising findings about the bacteria's origin and evolution. The new results could alter public health strategies to control this respiratory disease, which kills 195,000 children worldwide each year.

25 Apr 2014

Research shows epigenetic changes contributed to human survival over other extinct species

In parallel with modern man (Homo sapiens), there were other, extinct types of humans with whom we lived side by side, such as Neanderthals and the recently discovered Denisovans of Siberia. Yet only Homo sapiens survived. What was it in our genetic makeup that gave us the advantage?

23 Apr 2014

Researchers develop first size-based form of chromatography using nanodot technology

Using nanodot technology, Berkeley Lab researchers have demonstrated the first size-based form of chromatography that can be used to study the membranes of living cells.

23 Apr 2014

New computational tool identifies undiagnosed illnesses and unknown gene mutations

23 Apr 2014

University of Utah software successfully identifies diseases with unknown gene mutations in three separate cases

A computational tool developed at the University of Utah (U of U) has successfully identified diseases with unknown gene mutations in three separate cases, U of U researchers and their colleagues report in a new study in The American Journal of Human Genetics. The software, Phevor (Phenotype Driven Variant Ontological Re-ranking tool), identifies undiagnosed illnesses and unknown gene mutations by analyzing the exomes, or areas of DNA where proteins that code for genes are made, in individual patients and small families.

22 Apr 2014

Study explains biological processes of malignant cancer cells

Cancer cells may be known for their uncontrollable growth and spread, but they also differ from normal tissue in another manner: how they produce energy.

22 Apr 2014

Researchers examine link between alcoholism and loss of muscle strength

Muscle weakness is a common symptom of both long-time alcoholics and patients with mitochondrial disease. Now researchers have found a common link: mitochondria that are unable to self-repair.

22 Apr 2014

Scientists receive federal grant to track how multi-walled carbon nanotubes interact with human cells

Scientists at The University of Texas at Dallas have received a federal grant to investigate how tiny carbon structures used in the manufacture of many everyday products might affect human health.

22 Apr 2014

Researchers develop simple assay that reveals evolutionary relationships among various tumor sites within patient

The process of metastasis - a tumor's ability to spread to other parts of the body - is still poorly understood. It is not easy to determine whether metastasis began early or late in the development of the primary tumor or whether individual metastatic sites were seeded directly from the original tumor or from an intermediate site.

22 Apr 2014

Mutation News and Research

Scientists identify first gene linked to childhood-onset familial dilated cardiomyopathy

Study: Mutations could have major impact on treatment of human blood diseases

BRCA gene loss may accelerate cancer-promoting chromosome rearrangements

Finnish researchers discover gene mutation in ameloblastoma

University of Michigan scientists uncover how cells block mutation-causing activity of junk DNA

Study could lead to better understanding of how Notch protein directs healthy development of organs

MGH investigators develop next-generation genome editing system

SFU researchers trace evolution of HIV in North America

Promising new approach targets cancer protein to slow tumor growth

Researcher to recieve 2014 EMBO Gold Medal at FEBS-EMBO Meeting

Studies report new genetic disorder associated with degeneration of central/peripheral nervous systems

Study shows effect of whooping cough vaccination on Bordetella pertussis bacteria

Research shows epigenetic changes contributed to human survival over other extinct species

Researchers develop first size-based form of chromatography using nanodot technology

New computational tool identifies undiagnosed illnesses and unknown gene mutations

University of Utah software successfully identifies diseases with unknown gene mutations in three separate cases

Study explains biological processes of malignant cancer cells

Researchers examine link between alcoholism and loss of muscle strength

Scientists receive federal grant to track how multi-walled carbon nanotubes interact with human cells

Researchers develop simple assay that reveals evolutionary relationships among various tumor sites within patient

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

Latest News