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Bioinformatics researchers investigate functional diversity of proteins

No two human beings are the same. Although we all possess the same genes, our genetic code varies in many places. And since genes provide the blueprint for all proteins, these variants usually result in numerous differences in protein function. But what impact does this diversity have? Bioinformatics researchers at Rutgers University and the Technische Universitaet Muenchen have investigated how protein function is affected by changes at the DNA level.

6 Sep 2013

DeNovoGear software uses statistical probabilities to help identify genetic mutations

Concealed within the vastness of the human genome, (comprised of some 3 billion base pairs), mutations are commonplace. While the majority of these appear to have neutral effect on human health, many others are associated with diseases and disease susceptibility.

26 Aug 2013

Researchers demonstrate that 2-drug combination can eliminate cancer

New research conducted by Harvard scientists is laying out a roadmap to one of the holy grails of modern medicine - a cure for cancer.

20 Jul 2013

Researchers identify cellular channels critical for hearing

Ending a 30-year search by scientists, researchers at Boston Children's Hospital have identified two proteins in the inner ear that are critical for hearing, which, when damaged by genetic mutations, cause a form of delayed, progressive hearing loss. Findings were published online July 18 by the journal Neuron.

19 Jul 2013

Synthetic biology technology could lead to new antibiotics, modified protein-generators

Synthetic biology researchers at Northwestern University, working with partners at Harvard Medical School, have for the first time synthesized ribosomes -- cell structures responsible for generating all proteins and enzymes in our bodies -- from scratch in a test tube.

30 Jun 2013

Cow antibodies points to new ways for making human medicines

Humans have been raising cows for their meat, hides and milk for millennia. Now it appears that the cow immune system also has something to offer. A new study led by scientists from The Scripps Research Institute (TSRI) focusing on an extraordinary family of cow antibodies points to new ways to make human medicines.

7 Jun 2013

Mayo Clinic researchers complete world's first whole exome sequence of small intestine carcinoids

Researchers at Mayo Clinic have completed the world's first whole exome sequence of small intestine neuroendocrine tumors, also known to patients and physicians as carcinoids, the most common cancer of the small bowel and one that responds poorly to chemotherapy.

16 May 2013

Research on total anomalous pulmonary venous connection

Total anomalous pulmonary venous connection, one type of "blue baby" syndrome, is a potentially deadly congenital disorder that occurs when pulmonary veins don't connect normally to the left atrium of the heart.

13 May 2013

Researchers find tumors with ALK rearrangements can harbor additional mutations

The identification of potentially targetable kinase mutations has been an exciting advancement in lung cancer treatment.

23 Apr 2013

CHOP researchers moving closer to personalized medicine for children with cancer

Pediatric researchers, investigating the biology of brain tumors in children, are finding that crucial differences in how the same gene is mutated may call for different treatments.

27 Mar 2013

Study identifies genetic cause of developmental delay in Amish individuals in USA

Researchers from the research group in growth factors and cell differentiation at the University of Barcelona (UB) and the IDIBELL and have participated in an international study that has identified the genetic cause of developmental delay observed in Amish individuals in the USA.

15 Mar 2013

Study demonstrates relationship between protein HERC2 and human diseases

Researchers from the research group in growth factors and cell differentiation at IDIBELL and the University of Barcelonahave participated in an international study that has identified the genetic cause of developmental delay observed in Amish individuals in the USA.

13 Mar 2013

Reducing the level of mutant p53 gene increases susceptibility to cancer treatment

Scientists from the National Cancer Centre Singapore (NCCS) have discovered the workings of the gene that has been hindering treatment response in cancer patients. This discovery was made after 5 years of studying the mutant form of the p53 gene, the major tumor suppressor in humans, which is generally found mutated in over 50% of all type of human cancers.

27 Jan 2013

Lack of Mthfd1l enzyme causes neural tube defects in developing embryos

Researchers at The University of Texas at Austin have discovered that the lack of a critical enzyme in the folic acid metabolic pathway leads to neural tube birth defects in developing embryos.

18 Jan 2013

New method based on mass sequencing can detect hereditary breast and ovarian cancer syndrome

Researchers of the Catalan Institute of Oncology (ICO) at the Bellvitge Biomedical Research Institute (IDIBELL) have developed and validated a new method to diagnose hereditary breast and ovarian cancer syndrome based on mass sequencing of BRCA1 and BRCA2 genes. The model is based on a genetic and bioinformatic analysis which has been proved very effective.

17 Jan 2013

TKI-resistant human leukemia stem cells are the source of genomic instability

An international team of scientists, led by researchers from Temple University School of Medicine, has found that a source of mounting genomic chaos, or instability, common to chronic myeloid leukemia (CML) may lie in a pool of leukemia stem cells that are immune to treatment with potent targeted anticancer drugs.

12 Dec 2012

S45F mutation may offer identifiable risk factor in recurrent pediatric aggressive fibromatosis

In the case of aggressive fibromatosis, the good news is that it is a slow-growing benign tumor. The bad news is that this abdominal tumor often recurs after surgical removal. This is particularly true among children. While headway has been made in isolating causes of this recurrence in adults, it is less clear in children.

23 Aug 2012

SAGE Labs, Autism Speaks expand partnership to create first rat models for translational research

Autism Speaks, the world's leading autism science and advocacy organization, today announced its expanded collaboration with Sigma Advanced Genetic Engineering (SAGE) Labs, an initiative of Sigma- Life, to develop the first rat models with modified autism associated genes, intended to accelerate discovery and translational autism research.

3 Aug 2012

Researchers identify several gene mutations responsible for medulloblastoma

Researchers at the Stanford University School of Medicine and Lucile Packard Children's Hospital have identified several gene mutations responsible for the most common childhood brain tumor, called medulloblastoma, adding evidence to the theory that the diagnosis is a group of genetically distinct cancers with different prognoses. These and accompanying findings are likely to lead to less-toxic, better-targeted treatment approaches over the next two years, the researchers said.

23 Jul 2012

New drug combination could offer hope to children with neuroblastoma

A new drug combination could offer hope to children with neuroblastoma - one of the deadliest forms of childhood cancer - by boosting the effectiveness of a promising new gene-targeted treatment.

12 Jul 2012