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TSRI scientists map out protein structure involved in cellular function, nervous system development

Scientists from The Scripps Research Institute, working closely with researchers at the National Institutes of Health, have mapped out the structure of an important protein involved in cellular function and nervous system development.

12 May 2015

New study reveals genetic causes of rare syndrome that manifests as high blood pressure

The culmination of two decades of research, a new study reveals the genetic causes of a curious, rare syndrome that manifests as hypertension (high blood pressure) accompanied by short fingers (brachydactyly type E).

12 May 2015

Study: Disrupting cancer pathway could extend benefits of new immunity-boosting drugs

Understanding how to overrule a signaling pathway that can cause treatments to fail in metastatic melanoma patients should help physicians extend the benefits of recently approved immunity-boosting drugs known as checkpoint inhibitors to more patients.

12 May 2015

DNMT1 gene essential to maintain breast and cancer stem cells

The gene and hormone soup that enables women to breastfeed their newborns also can be a recipe for breast cancer, particularly when the first pregnancy is after age 30.

12 May 2015

World renowned surgeon evaluates parallels between Prostate cancer, Breast cancer

World renowned robotic prostate cancer surgeon, Dr. David Samadi, evaluates the parallels between Prostate cancer and Breast cancer. Prostate cancer is just as common in men as breast cancer is in women with over 233,000 cases diagnosed each year.

12 May 2015

Immune system plays surprising role in the progression of Rett syndrome

New research by investigators at the University of Massachusetts Medical School suggests the immune system plays an unsuspected and surprising role in the progression of Rett syndrome, a severe neurological disorder affecting children. Immune cells known as macrophages are unable to perform their normal function and are instead amplifying the disease.

11 May 2015

Scientists identify gene that causes hereditary hypertension and brachydactyly type E

Individuals with this altered gene have hereditary hypertension (high blood pressure) and at the same time a skeletal malformation called brachydactyly type E, which is characterized by unusually short fingers and toes. The effect on blood pressure is so serious that -- if left untreated -- it most often leads to death before age fifty.

11 May 2015

Overview of Blueprint Medicines' kinase drug discovery strategy published in JCI

Blueprint Medicines today announced that the Journal of Clinical Investigation published an overview of the Company's kinase drug discovery and development strategy. The publication underscores Blueprint Medicines' focus on identifying novel genomically defined disease drivers and the use of novel chemistry from its proprietary compound library to craft highly selective kinase inhibitors for new and difficult-to-drug kinase targets.

11 May 2015

MJFF announces acquisition of parkin research tools from Imago Pharmaceuticals

The Michael J. Fox Foundation for Parkinson's Research announces the acquisition of a library of research tools around the parkin protein from Imago Pharmaceuticals. The Foundation believes these tools — cell lines, plasmids, compounds and more — will accelerate biological study and drug development against this promising disease-modification target.

11 May 2015

Mixture of two anti-EGFR antibodies clinically active in treatment-resistant colorectal cancer

Patients with advanced colorectal tumors without mutations in the RAS genes derive substantial benefit from anti-EGFR therapies; however, the disease eventually progresses, leaving these patients with few alternative therapeutic options.

11 May 2015

Research findings could lead to new targeted treatments for aggressive subtype of lymphoma

An international team of researchers, including Lukas Kenner from the Clinical Department of Pathology at MedUni Vienna, has discovered a specific combination of mutations and new gene fusions, which are heavily implicated in tumour growth in patients with a particularly aggressive subtype of lymphoma (ALCL).

11 May 2015

Roche announces FDA approval of cobas KRAS Mutation Test for diagnostic use

Roche today announced that the U.S. Food and Drug Administration has approved the cobas KRAS Mutation Test for diagnostic use. The real-time PCR test is designed to identify KRAS mutations in tumor samples from metastatic colorectal cancer (mCRC) patients and aid clinicians in determining a therapeutic path for them.

11 May 2015

Researchers discover potential mechanism to combat haemorrhagic diseases

A potential mechanism to combat diseases caused by haemorrhagic fever viruses has been discovered by researchers at the University of Montreal's Department of Biochemistry and Molecular Medicine. These diseases present a dramatic risk to human health as they often spread quickly and kill a high percentage of infected individuals, as demonstrated by the recent Ebola outbreaks.

11 May 2015

Study sheds light on developing more targeted therapies against medulloblastoma

St. Jude Children's Research Hospital scientists have gained ground toward developing more targeted therapies for the most common childhood brain tumor.

10 May 2015

Researchers identify promising combination strategy for treating glioblastomas

Therapies that specifically target mutations in a person's cancer have been much-heralded in recent years, yet cancer cells often find a way around them. To address this, researchers at University of California, San Diego School of Medicine and Moores Cancer Center identified a promising combinatorial approach to treating glioblastomas, the most common form of primary brain cancer.

10 May 2015

Overexpression of cyclin E protein could lead to breast cancer, leukemia

A new study led by scientists at The Scripps Research Institute sheds light on the cause of some cancers, including breast cancer and leukemia.

8 May 2015

Quantitative phosphoproteomic approach to identify targeted cancer therapy

Winner of the Louise Eisenhardt Traveling Scholarship Award, Teresa Purzner, MD, presented her research, Quantitative Phosphoproteomics for Targeted Cancer Therapy.

7 May 2015

Quest Diagnostics launches genomic test service that aids in diagnosis for myeloid neoplasms

Quest Diagnostics, the world's leading provider of diagnostic information services, today announced LeukoVantage, an evidence-based genomic test service that aids in the diagnosis, prognosis, monitoring and selection of treatment for myeloid neoplasms, a group of hematologic malignancies that includes acute myeloid leukemia (AML), the most common form of adult acute leukemia, as well as myelodysplastic syndrome (MDS) and myeloproliferative neoplasms (MPNs).

From Quest Diagnostics 7 May 2015

Positive data from two studies analyzing Good Start's test for inherited diseases presented at ACOG 2015

Good Start Genetics, Inc., a commercial-stage molecular genetics information company, today presented data from two studies analyzing detection rates among patients at in vitro fertilization (IVF) clinics who underwent carrier screening for inherited diseases. The studies were presented at the 2015 Annual Clinical and Scientific Meeting of The American College of Obstetricians and Gynecologists being held in San Francisco, Calif.

7 May 2015

Scientists solve mystery about the origin of ovarian cell

Scientists at the National Institutes of Health have solved a long-standing mystery about the origin of one of the cell types that make up the ovary. The team also discovered how ovarian cells share information during development of an ovarian follicle, which holds the maturing egg.

7 May 2015

Mutation News and Research

TSRI scientists map out protein structure involved in cellular function, nervous system development

New study reveals genetic causes of rare syndrome that manifests as high blood pressure

Study: Disrupting cancer pathway could extend benefits of new immunity-boosting drugs

DNMT1 gene essential to maintain breast and cancer stem cells

World renowned surgeon evaluates parallels between Prostate cancer, Breast cancer

Immune system plays surprising role in the progression of Rett syndrome

Scientists identify gene that causes hereditary hypertension and brachydactyly type E

Overview of Blueprint Medicines' kinase drug discovery strategy published in JCI

MJFF announces acquisition of parkin research tools from Imago Pharmaceuticals

Mixture of two anti-EGFR antibodies clinically active in treatment-resistant colorectal cancer

Research findings could lead to new targeted treatments for aggressive subtype of lymphoma

Roche announces FDA approval of cobas KRAS Mutation Test for diagnostic use

Researchers discover potential mechanism to combat haemorrhagic diseases

Study sheds light on developing more targeted therapies against medulloblastoma

Researchers identify promising combination strategy for treating glioblastomas

Overexpression of cyclin E protein could lead to breast cancer, leukemia

Quantitative phosphoproteomic approach to identify targeted cancer therapy

Quest Diagnostics launches genomic test service that aids in diagnosis for myeloid neoplasms

Positive data from two studies analyzing Good Start's test for inherited diseases presented at ACOG 2015

Scientists solve mystery about the origin of ovarian cell

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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