Mutation News and Research

RSS

U-M researchers a step closer to developing treatments for aging and chronic diseases

As our bodies first form, developing cells are a lot like children put on the school bus with their names and addresses pinned to their shirts. The notes identify one as a future heart cell, another as a liver cell, a third as a neuron. And that's what they each grow up to be. But once those cells reach adulthood, changes to those original marching orders caused by aging, disease and other stressors like smoking can precipitate a kind of identity crisis, researchers at the University of Michigan Health System have found.

2 Jul 2011

Small molecule treatment holds promise for Usher syndrome

New treatment approach shall soon be ready for use in Usher syndrome patients / Publication in "Human Gene Therapy".

1 Jul 2011

Autism Speaks Weatherstone fellows publish new mouse model findings in Cell journal

Autism Speaks Weatherstone Pre-Doctoral Fellows M. Ali Bangash, a 2009 fellow, and Mehreen Kouser, a 2010 fellow, recently published new findings in the journal Cell that shed light on the biology of autism.

1 Jul 2011

Potential new treatment for rare, inherited metabolic disease

The rare disorder alpha-mannosidosis can cause serious damage to the nervous system and other organ systems. In Tromsø, Norway, researchers have been studying the disease for 20 years - and a treatment may soon be available.

1 Jul 2011

Two defective genes may cause telomere elongations in cancer cells: Study

Scientists at Johns Hopkins have provided more clues to one of the least understood phenomena in some cancers: why the "ends caps" of cellular DNA, called telomeres, lengthen instead of shorten.

1 Jul 2011

Genetic mutations in abnormal bone marrow can predict mortality of MDS patients

For patients with myelodysplastic syndromes (MDS), choosing the appropriate treatment depends heavily on the prognosis. Those patients at the highest risk of dying from their disease are typically offered the most aggressive therapies, while patients at lower risk could live several years with MDS, needing only supportive care or other relatively side-effect free treatments.

1 Jul 2011

New analytical approach can organize large amounts of varied cancer genetic data

The technology that allows scientists to profile the entire genome of individual tumors offers new hope for discovering ways to select the best treatment for each patient's particular type of cancer. However, these profiles produce huge amounts of data, and the volume alone creates unique analytical problems.

1 Jul 2011

Ovarian cancer molecular updates

In a new study a genetic mutation was found in the most common form of ovarian cancer. This according to the US scientists could pave the way for a more effective treatment of the disease. The detailed genetic map already helped scientists identify existing drugs with the potential for treating the mutations found in ovarian cancer tumors and also identified mutations that could respond to new drugs.

1 Jul 2011

Lotus Tissue Repair to develop DEB protein replacement therapy with $26 million Series A financing

Lotus Tissue Repair, Inc. today announced the closing of a $26 million Series A financing led by Third Rock Ventures. Proceeds of the financing will be used to advance the company's proprietary recombinant collagen type VII (rC7) technology as the first and only protein replacement therapy in development for the treatment of dystrophic epidermolysis bullosa (DEB), an orphan disease that causes devastating skin blisters, morbidity and early mortality.

30 Jun 2011

Glia plays key role in preventing progression of Rett Syndrome symptoms

A paper published online today in Nature reveals that glia play a key role in preventing the progression of the most prominent Rett Syndrome symptoms displayed by mouse models of the disease: lethality, irregular breathing and apneas, hypoactivity and decreased dendritic complexity.

30 Jun 2011

TCGA examines ovarian serous adenocarcinoma tumors from 500 patients

An analysis of genomic changes in ovarian cancer has provided the most comprehensive and integrated view of cancer genes for any cancer type to date. Ovarian serous adenocarcinoma tumors from 500 patients were examined by The Cancer Genome Atlas (TCGA) Research Network and analyses are reported in the June 30, 2011, issue of Nature.

30 Jun 2011

STSI joins JAX consortium to develop targeted cancer therapies

The Scripps Translational Science Institute (STSI) of San Diego, Calif., has joined a national consortium of research institutions headed by The Jackson Laboratory (JAX) that is building a library of primary human tumors with the goal of developing highly targeted cancer therapies.

30 Jun 2011

Researchers develop way to uncover evolution of human cancer cells

A team of researchers led by scientists at the University of California, San Francisco has developed a way to uncover the evolution of human cancer cells, determining the order in which mutations emerge in them as they wend their way from a normal, healthy state into invasive, malignant masses.

30 Jun 2011

Acetylon to advance ACY-1215 drug candidate with $27M Series B Preferred equity investment round of financing

Acetylon Pharmaceuticals, Inc. announced today that it has completed a $27 million Series B Preferred equity investment round of financing.

29 Jun 2011

USPTO awards patent for key therapeutic ingredient in CNVN202 targeted molecular cancer therapy

Convergen LifeSciences, Inc. announced today that a United States Patent has been awarded by the U.S. Patent and Trademark Office jointly to The University of Texas System Board of Regents and The Secretary, U.S. Department of Health and Human Services.

29 Jun 2011

Combination therapies inhibiting P7 could prevent spread of HCV

British researchers have identified specific resistance mutations for two classes of p7 inhibitor, which may explain their lack of effectiveness in clinical trials combined with current standard of care.

29 Jun 2011

Nimbus Discovery closes $24 million Series A financing

Nimbus Discovery LLC, a biopharmaceutical company using state-of-the-art computational technology to discover novel medicines against exciting but previously inaccessible disease targets, today announced the close of a $24M Series A financing.

28 Jun 2011

Protein c-JUN protects both tumour accelerating gene and tumour suppressor gene

The process of cell division is tightly regulated, as mistakes may lead to cancer. The so-called c-JUN protein has been fingered as causing tumours in both skin and liver. It has long been known to have a direct role in reducing the expression of a gene (p53) that leads to the death of abnormal cells and to activate transcription of a further gene (CyclinD1) that directly promotes cell division.

28 Jun 2011

Inefficiency of activation-induced deoxycytidine deaminase is good for the immune system

Why is antibody diversity important? Think about it like this, said Myron Goodman, who is an author on the paper: "Why don't you die when I sneeze? It's because you have a powerful immune system. And the way to get a decent immune system is for your body to have a way to respond to insults it has never seen before."

28 Jun 2011

Scientists discover origin of Barrett's esophagus

Dr Frank McKeon, Senior Group Leader of the Stem Cell and Developmental Biology at A*STAR's Genome Institute of Singapore, and Principal Investigator Dr Wa Xian at A*STAR's Institute of Medical Biology, together with their counterparts from the Harvard Medical School, the Brigham and Women's Hospital in Boston, and the National University of Singapore, have made the striking finding that Barrett's esophagus work, published online in the journal Cell on 24 June 2011, is essential to developing therapeutics for esophageal cancer.

28 Jun 2011