Mutations in Medical Technology

Vectibix(R) in Combination With Chemotherapy Significantly Improved Progression-Free Survival in First-Line Metastatic Colorectal Cancer

... respect to the presence or absence of activating mutations in KRAS in the tumor itself. Tumor KRAS ... activated or therapeutically inhibited. KRAS mutations occur in approximately 40 - 50 percent of mCRC. ... benefit for patients whose tumors had KRAS mutations in codon 12 or 13. In December 2007, the ...

ARUP Laboratories Applauds FDA's Decision on the Value of KRAS-Mutation Testing in Colorectal Cancer

... in patients whose tumors had KRAS mutations in codon 12 or 13," and that the use of the drugs ... Most colorectal cancer is caused by somatic mutations and is not hereditary. mutations in the oncogene KRAS are seen in over 40 ...

Fruitfly Model of a Neuropathic Disease Demonstrates Novel Role for Proteins in the Family of aTyr Pharma's Product Class

... in the fruit fly (Drosophila) by introducing mutations in the tyrosyl-tRNA synthetase which correspond to disease associated mutations in humans. These dominant mutations do not cause a loss in the protein synthesis ...

Value of Genetic Testing for Preventing Blood Clots Unproven, According to New AHRQ Study

... to conclude that genetic testing for two gene mutations in adults with a history of blood clots helps to ... of patients who have at least one of the two mutations -- known as Factor V Leiden (FVL) and prothrombin ... The evidence shows that tests for identifying the mutations have excellent analytic validity and that nearly ...

Mutant Genes in High-Risk Childhood Leukemias Identified

... genetic mutations. Discovery of the mutations was led by scientists from St. Jude Children's ... that some high-risk ALL cases might arise from mutations in genes that produce enzymes called kinases, ... and a co-first author of the study. "Such mutations would cause those kinases to be stuck in the on ...

Boehringer Ingelheim to Present New Phase II Clinical Data on Two Lead Oncology Compounds at ASCO 2009

... Treatment of NSCLC Patients with EGFR Activating mutations - (1,2) -The First Presentation of Data on ... "It is well documented that 'activating' mutations that arise in the tyrosine kinase (TK) domain of ... the LUX-Lung 2 study and 104 patients with EGFR mutations have started treatment with BIBW 2992 once daily. ...

Genetic Source of Rare Childhood Cancer Found; Gene is Implicated in Other Cancers

... cancer an important model for understanding how mutations and loss of DICER1 function lead to cancer," says ... from an unusual mechanism in which cells carrying mutations induce nearby cells to become cancerous without ... the children studied with PPB carried damaging mutations in one of their DICER1 genes, giving them one ...

Research Teams at J. Craig Venter Institute and Ludwig Institute for Cancer Research Uncover New Chromosomal Alterations in Cancer Using Transcriptome Sequencing Approach

... cell line have uncovered certain types of genetic mutations and chromosomal abnormalities associated with ... as the MRE11A protein that is associated with mutations in many types of tumors including in breast ... very adept at finding genomic rearrangements and mutations associated with cancers. With deeper sequencing ...

PTC Announces Data Showing That PTC124 Causes Statistically Significant Improvements in Chloride Channel Function in Cystic Fibrosis Patients

... lung, pancreas, liver and other organs. Nonsense mutations are single-point alterations in the genetic code ... often have a more severe form of CF. Nonsense mutations are responsible for approximately 10 percent of ... of nonsense mutation genetic disorders. Nonsense mutations are single-point alterations in the genetic code ...

Gene That Causes Childhood Cancer Neuroblastoma Is Found

... -- Scientists have discovered gene mutations that are the main cause of the inherited ... In addition, the researchers found that the same mutations play a significant role in high-risk forms ... Further sequencing of that region identified mutations in the anaplastic lymphoma kinase (ALK) gene in ...

BARACLUDE(R) (entecavir) Data Continue to Demonstrate Low Incidence of Resistance Through Five Years of Treatment in Nucleoside-naive Chronic Hepatitis B Patients

... the cumulative probability of developing mutations in the virus that confer resistance to BARACLUDE ... that the pre-existence of lamivudine-resistant mutations results in an increase in the rate of BARACLUDE ... To date, studies have shown that multiple mutations are required to develop BARACLUDE(R) (entecavir) ...

PTC Therapeutics Announces Publication of Preclinical Data in PNAS

... in a significant percentage of patients. Nonsense mutations inactivate gene function and are known to cause ... demonstrate that PTC124 targets genetic mutations in a completely new way. PTC124 functions by ... disorders due to nonsense mutations. Nonsense mutations are single-point alterations in the genetic code ...

Researchers Create First Targeted Knockout Rats Using Zinc Finger Nuclease Technology

... ZFNs into early-stage embryos and rapidly generate heritable, knockout mutations in a whole organism. Rats are physiologically more similar to ... studies using serial sampling. Generating rats with knockout mutations has been a major challenge, but the new technique will increase the rat's ...

More Gene Mutations Linked to Autism Risk

... --Combination of Inherited and New Genetic mutations Acting Together-- PHILADELPHIA, June 26 /PRNewswire-USNewswire/ -- ... "We are finding that both inherited and new, or de novo , genetic mutations are scattered throughout the genome and we suspect that different ...

Study Shows How Defective DNA Repair Triggers Two Neurological Diseases

... "Thus, these findings have allowed us to understand how these different mutations in this one DNA repair complex can lead to different neuropathological ... prone to cancer. "There is a suspicion that people who carry these mutations may be predisposed to cancer and also more susceptible to chemotherapy ...

Gene Abnormality Found to Predict Childhood Leukemia Relapse

... Tenn., Jan. 7 /PRNewswire-USNewswire/ -- Scientists have identified mutations in a gene that predict a high likelihood of relapse in children with acute ... association was with the deletions or changes in the IKAROS gene. mutations of IKAROS were shown to identify a subgroup of patients who were treated ...

Late-Breaking Data Highlighting Research Advances in Several Blood Disorders to Be Presented At the American Society of Hematology Annual Meeting

... of some blood cells. Previous research has detected mutations in other genes -- JAK 2 and MP L -- in the blood stem cells of ... unselected JAK2 V617F patients with myeloproliferative disorders. TET2 mutations were found in 25 of the 181 patients, resulting in an overall 14 percent ...

New Computer-Based Tools Will Help Make Best Use of Genetic Breast Cancer Tests

... and BRCA2 gene mutations. Knowing whether a woman has inherited these gene mutations may help determine her chances of developing certain kinds of cancer, ... history is associated with an increased risk for BRCA1 or BRCA2 gene mutations are referred for genetic counseling and evaluation to measure the need for ...

Encouraging Gene Therapy Results in Genetic Form of Blindness

... be caused by many different genes but the newly treated form is caused by mutations in the RPE65 gene, which is essential for maintenance of sight. A group of ... paper entitled, "Phase I Trial of Leber Congenital Amaurosis due to RPE65 mutations by Ocular Subretinal Injection of Adeno-Associated Virus Gene Vector: ...

New Research Shows One in 200 People Born with DNA Mutation That Can Lead to Devastating, Often Fatal Disease

... at least one in 200 newborns harbor known pathogenic mitochondrial DNA mutations indicates that mitochondrial dysfunction is a major underlying risk factor ... disease. The study's findings establish that the incidence of new mutations and the frequency of asymptomatic carriers are not rare and emphasize the ...

Treatment Corrects Severe Insulin Imbalance in Animal Studies

... of Biological Chemistry. In congenital hyperinsulinism (HI), genetic mutations damage the insulin-secreting beta cells in the pancreas. Insulin levels ... drug does not work in the most common and severe forms of HI, in which mutations prevent those channels from forming. When the abnormal beta cells are ...

Michael J. Fox Foundation Funds $1.1 Million for Cutting-Edge Approaches to Parkinson's Disease Under Rapid Response Innovation Awards 2008

... engineered stem cells to generate human dopamine neurons with or without mutations in the respective genes. Both projects seek to characterize disease mechanisms set off by genetic mutations and to create new models for testing therapeutic approaches that could ...

PTC Therapeutics Announces Data Supporting Cough Frequency as a New Outcome Measure in Evaluating Treatments for Cystic Fibrosis

... CF is caused by a nonsense mutation, and it is estimated that nonsense mutations are the cause of CF in approximately 10% of patients in the United States. ... for the treatment of genetic disorders due to nonsense mutations. Nonsense mutations are single-point alterations in the genetic code that prematurely stop the ...

Molecular Therapy Succeeds in Preventing Craniofacial Birth Defect in Mice

... the disorder or by inhibiting a protein produced by the gene. In TCS, mutations in the TCOF1 gene on chromosome 5 causes a high degree of cell death in ... the disorder. In about 60 percent of cases, TCS results from new gene mutations and occurs in people with no history of the disorder in their family. ...

Interim Phase 2 Data for Exelixis' XL880 Show Anti-Tumor Activity in Papillary Renal Cell Cancer

... the biology of the disease, which frequently is associated with activating mutations or amplifications in MET, and the favorable responses observed in ... have been enrolled in this ongoing study: Five with activating MET mutations and 16 with wild type MET. Sixteen patients were evaluable for safety ...

St. Jude Identifies the Specific Cell That Causes Eye Cancer, Disproving Long-Held Theory

... Researchers found that certain mutations enable specific cells in the retina to multiply and cause eye cancer, a ... and it is generally not aggressive until the tumor cells sustain mutations that block differentiation. An important implication of this finding is ...

Xenomics Announces Implementation of its First Diagnostic Test for Acute Myeloid Leukemia Into Clinical Practice

... at the Institute of Hematology at the University of Perugia in Italy that mutations in a nucleophosmin (NPM1) gene are characteristic of 30-40% of the cases ... license for the invention and developed a test that detects all 45 known mutations of NPM1 in a single reaction. The results will help physicians with ...

Amicus Therapeutics Commences Phase 3 Trial Evaluating Amigal(TM) for the Treatment of Fabry Disease

... cells from kidney biopsies and in urine. About Fabry Disease Fabry disease is a lysosomal storage disorder caused by inherited genetic mutations in the GLA gene, which result in deficient activity of the enzyme alpha-galactosidase A (a-Gal A). Deficient a-Gal A activity leads to lysosomal ...

Cephalon Provides Clinical Update on Lestaurtinib in Relapsed Acute Myelogenous Leukemia

... a Janus kinase (JAK2). In leukemic cells, lestaurtinib inhibits FLT3 activity and induces cell death (apoptosis). In myeloproliferative disorders, mutations in JAK2 may play a role in allowing large numbers of abnormal blood cells or platelets to grow and spread in the bone marrow and the rest of the ....

Glybera(TM) Shows Long-Term Health Benefits

... with the genetic disorder lipoprotein lipase deficiency. LPLD is an orphan disease for which no treatment exists today. The disease is caused by mutations in the LPL gene, resulting in highly decreased or absent activity of LPL protein in patients. This protein is needed in order to break down large ...

Encouraging First Data on New Targeted Treatment for Patients With Melanoma - the Deadliest Form of Skin Cancer

... Abramson Cancer Center of the University of Pennsylvania and principal investigator for the PLX4032 phase I clinical trial. "Seven years after BRAF mutations were first identified we have validation that this mutation is a cancer driver and therapeutic target. In addition to a new and important chapter in ...

Video: Data on More Than 15 Novartis Oncology Compounds at ASCO Highlight Progress Toward Targeted Therapies for Diverse Tumor Types

... mutations. A mutation in the protein called KIT, located on the surface of normal cells, signals cells to continually grow and divide. Similar KIT mutations in GIST were shown to be treated effectively by Gleevec. The preliminary data from the investigator-driven study show that five out of five patients ...

In Rare Disorder, a Familiar Protein Disrupts Gene Function

... with CdLS. In the current study, Krantz did a genome-wide analysis of mutant cell lines from 16 patients with severe CdLS. All the cells had mutations in the NIPBL gene, which plays a role in moving cohesin onto and off chromosomes. The researchers used DNA microarrays, manufactured chips ...

Stand Up To Cancer Awards $73.6 Million for Novel, Groundbreaking Cancer Research

... critical and promising areas of cancer research today. They will enable scientists to gain new understanding of the molecular pathways and genetic mutations that contribute to the causes of many cancers; to apply nanotechnology to isolate and analyze circulating tumor cells; to explore imaging approaches ...

Autism Genes Discovered; Help Shape Connections Among Brain Cells

... suggestions that autism arises from abnormal connections among brain cells during early development, it is very compelling to find evidence that mutations in genes involved in brain interconnections increase a child's risk of autism," said study leader Hakon Hakonarson, M.D., Ph.D., director of the ...

Micromet Presents Update on BiTE Antibody Pipeline and Reviews Key AACR Presentations at R&D Day

... active against KRAS-and BRAF-mutated human colorectal cancer cell lines. Recent clinical studies have shown that patients with tumor cells harboring mutations in KRAS and BRAF oncogenes do not respond to treatment with Erbitux or Vectibix. These patients make up more than 40% of colorectal cancer patients. ...

ANA598 Demonstrates Potent Antiviral Activity at all Dose Levels in Completed Phase Ib Study in Hepatitis C Patients

... that, through virtue of binding at a different site than ANA598, display a resistance profile distinct from that of ANA598. Genotypic mutations resistant to ANA598 will be shown to be fully susceptible to interferon-alpha, telaprevir and PSI-6130. About ANA598 Anadys retains ...

Micromet Presents Preclinical Data Showing Activity of Erbitux and Vectibix Based BiTE Antibodies against KRAS- and BRAF-mutated Human Colorectal Cancer Cells

... that the chimeric monoclonal antibodies cetuximab(2,3) and panitumumab(3,4) are not active in colorectal cancer patients with tumor cells harboring mutations in KRAS and BRAF oncogenes. These two populations make up more than 40% of colorectal cancer patients. Micromet's researchers converted ...

Michael J. Fox Foundation Commits up to $6.5 Million in Funding for Critical Challenges in Parkinson's Disease

... this promising new therapeutic target. Ideal proposals will work to shed light on critical questions surrounding LRRK2, such as how LRRK2 pathogenic mutations directly lead to in vivo functional and pathological outcomes, and which cellular pathways LRRK2 normally and/or abnormally functions in. ...

Semafore Achieves a Preclinical Milestone with SF2626, a PI3K-MEK Dual Pathway Kinase Inhibitor

... in some cancers both pathways require inhibition to induce programmed cell death. Additionally, clinical studies in cancer patients with KRAS mutations show that EGFR inhibitors alone are not sufficient to block the downstream activation of the Ras-MAPK pathway. In these patients, it may also be ...