Mutation News and Research

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Pharmaceutical companies race for new cholesterol drugs, Roche abandons diabetes drug development

A discovery of a rare mutation that affects cholesterol has ignited hopes of a prescription that can help prevent heart attacks. In the meantime, the announcement by Roche could pose more questions about controversial diabetes medicines. Also a federal report warns Americans of using some Internet pharmacies.

11 Jul 2013

First Edition: July 10, 2013

Today's early morning highlights from the major news organizations, including articles about House Republican plans to seek a delay in the health law's requirement that nearly all Americans get health insurance.

10 Jul 2013

H7 influenza may spillover repeatedly into humans, say scientists

The H7N9 avian flu strain that emerged in China earlier this year has subsided for now, but it would be a mistake to be reassured by this apparent lull in infections. The virus has several highly unusual traits that paint a disquieting picture of a pathogen that may yet lead to a pandemic, according to lead scientists from the National Institute of Allergy and Infectious Diseases.

10 Jul 2013

Research finding may offer novel path for cancer drug design

Genetic mutations aren't the only thing that can keep a protein called PTEN from doing its tumor-suppressing job. Johns Hopkins researchers have now discovered that four small chemical tags attached (reversibly) to the protein's tail can have the same effect, and they say their finding may offer a novel path for drug design to keep PTEN working.

10 Jul 2013

Study confirms role of MAPK mutations in pilocytic astrocytomas

Brain cancer is the primary cause of cancer mortality in children. Even in cases when the cancer is cured, young patients suffer from the stress of a treatment that can be harmful to the developing brain. In a search for new target structures that would create more gentle treatments, cancer researchers are systematically analyzing all alterations in the genetic material of these tumors.

10 Jul 2013

TGA of Australia approves Vertex Pharmaceuticals' KALYDECO for cystic fibrosis

Vertex Pharmaceuticals Incorporated today announced that the Therapeutic Goods Administration of Australia has approved KALYDECO (ivacaftor) for people with cystic fibrosis ages 6 and older who have at least one copy of the G551D mutation in the cystic fibrosis transmembrane conductance regulator gene.

10 Jul 2013

Researcher uncover biomarkers from stem cells derived from bone marrow of ALS patients

Amyotrophic Lateral Sclerosis (ALS) is a devastating motor neuron disease that rapidly atrophies the muscles, leading to complete paralysis. Despite its high profile - established when it afflicted the New York Yankees' Lou Gehrig - ALS remains a disease that scientists are unable to predict, prevent, or cure.

10 Jul 2013

Multiple pregnancies conceived after IVF associated with increased breast cancer risk

Women who give birth to multiple babies following IVF treatment are at a higher risk of breast cancer than those giving birth to singletons or who remain childless. Dutch investigators from the Omega study group said the explanation may not be the multiple pregnancy per se but a maternal trait related to a higher implantation potential and to breast cancer itself.

9 Jul 2013

Cancer immunotherapies promise to be a new tool in fight against cancer

Drugs that direct a cancer patient's immune system to eradicate her or his disease, known as cancer immunotherapies, promise to be a new tool in the fight against cancer. Since the Koch Institute's inception, exploring the close relationship between the immune system and cancer has been one of the Institute's priority research areas.

9 Jul 2013

AHCF to fund additional research into cure for Alternating Hemiplegia of Childhood

Due to a generous donation of $169,000 by a donor who wishes to remain anonymous, the Alternating Hemiplegia of Childhood Foundation will fund additional research through Vanderbilt University, bringing them closer to a cure for Alternating Hemiplegia of Childhood.

9 Jul 2013

Researchers discover potential biomarkers that track progression of neurodegenerative disease

A hallmark of neurodegenerative diseases such as Alzheimer's, Parkinson's and Huntington's is that by the time symptoms appear, significant brain damage has already occurred-and currently there are no treatments that can reverse it.

9 Jul 2013

Discovery of new receptor could turn the tide against mosquitoes' growing advantage

In the global war against disease-carrying mosquitoes, scientists have long believed that a single molecular door was the key target for insecticide. This door, however, is closing, giving mosquitoes the upper hand.

9 Jul 2013

Mouse study identifies new treatment options for bowel cancer

Researchers have discovered the genetic processes that cause specific types of bowel cancer. Using this knowledge, they identified cancer drugs that target these genes. Their findings offer the opportunity to develop personalised treatment based on a person's genetic profile.

9 Jul 2013

p53 restoration of function drug candidate: an interview with Dr. Wayne Danter, MD, FRCPC President and CEO of Critical Outcome Technologies

COTI-2 is a computer-designed small molecule that was discovered by our artificial intelligence drug discovery platform called CHEMSAS.

8 Jul 2013

Seattle researchers map critical molecules that regulate inflammation during flu infection

The influenza virus' ability to mutate quickly has produced new, emerging strains that make drug discovery more critical than ever. For the first time, researchers at Seattle BioMed, along with collaborators at the University of California, San Diego School of Medicine, St. Jude Children's Research Hospital and the University of Washington, have mapped how critical molecules regulate both the induction and resolution of inflammation during flu infection.

6 Jul 2013

Scientists focus on the role of mutated adult neural stem cells play in human diseases

CHARGE syndrome* is a severe developmental disorder affecting multiple organs. It affects 1 in 8500 newborns worldwide. The majority of patients carry a mutation in a gene called CHD7. How this single mutation leads to the broad spectrum of characteristic CHARGE symptoms has been a mystery.

6 Jul 2013

Researchers fabricate nanotweezers that could be used to control and regulate enzymes

In new research, Hao Yan and his colleagues at Arizona State University's Biodesign Institute describe a pair of tweezers shrunk down to an astonishingly tiny scale. When the jaws of these tools are in the open position, the distance between the two arms is about 16 nanometers-over 30,000 times smaller than a single grain of sand.

5 Jul 2013

Genetic cause identified for diffuse non-epidermolytic palmoplantar keratoderma

Scientists have identified the genetic cause of a rare skin condition that causes the hands and feet to turn white and spongy when exposed to water.

4 Jul 2013

New study finds inherited genetic contribution in autism with intellectual disability

Researchers are striving to understand the different genetic structures that underlie at least a subset of autism spectrum disorders. In cases where the genetic code is in error, did that happen anew in the patient, perhaps through mutation or copying error, or was it inherited? A new study in the American Journal of Human Genetics finds evidence that there may often be a recessive, inherited genetic contribution in autism with significant intellectual disability.

4 Jul 2013

Research shows mutations in FAM190A gene may contribute to chromosomal instability in cancer

Johns Hopkins cancer scientists have discovered that a little-described gene known as FAM190A plays a subtle but critical role in regulating the normal cell division process known as mitosis, and the scientists' research suggests that mutations in the gene may contribute to commonly found chromosomal instability in cancer.

4 Jul 2013

Mutation News and Research

Pharmaceutical companies race for new cholesterol drugs, Roche abandons diabetes drug development

First Edition: July 10, 2013

H7 influenza may spillover repeatedly into humans, say scientists

Research finding may offer novel path for cancer drug design

Study confirms role of MAPK mutations in pilocytic astrocytomas

TGA of Australia approves Vertex Pharmaceuticals' KALYDECO for cystic fibrosis

Researcher uncover biomarkers from stem cells derived from bone marrow of ALS patients

Multiple pregnancies conceived after IVF associated with increased breast cancer risk

Cancer immunotherapies promise to be a new tool in fight against cancer

AHCF to fund additional research into cure for Alternating Hemiplegia of Childhood

Researchers discover potential biomarkers that track progression of neurodegenerative disease

Discovery of new receptor could turn the tide against mosquitoes' growing advantage

Mouse study identifies new treatment options for bowel cancer

p53 restoration of function drug candidate: an interview with Dr. Wayne Danter, MD, FRCPC President and CEO of Critical Outcome Technologies

Seattle researchers map critical molecules that regulate inflammation during flu infection

Scientists focus on the role of mutated adult neural stem cells play in human diseases

Researchers fabricate nanotweezers that could be used to control and regulate enzymes

Genetic cause identified for diffuse non-epidermolytic palmoplantar keratoderma

New study finds inherited genetic contribution in autism with intellectual disability

Research shows mutations in FAM190A gene may contribute to chromosomal instability in cancer

Industry Focus eBook - Analytical Chemistry (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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