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Researchers discover gene mutations in patients with alternating hemiplegia of childhood

Alternating hemiplegia of childhood (AHC) is a very rare disorder that causes paralysis that freezes one side of the body and then the other in devastating bouts that arise at unpredictable intervals. Seizures, learning disabilities and difficulty walking are common among patients with this diagnosis.

30 Jul 2012

Researchers isolate elusive human gene that causes NMNAT1-related Leber congenital amaurosis

Researchers from the Massachusetts Eye and Ear Infirmary, The Children's Hospital of Philadelphia, Loyola University Chicago Health Sciences Division and their collaborators have isolated an elusive human gene that causes a common form of Leber congenital amaurosis (LCA), a relatively rare but devastating form of early-onset blindness. The new LCA gene is called NMNAT1.

30 Jul 2012

ARIAD Pharmaceuticals commences ponatinib Phase 3 trial in newly diagnosed CML

ARIAD Pharmaceuticals, Inc. today announced the initiation of the randomized Phase 3 trial of ponatinib, its investigational pan-BCR-ABL inhibitor, in adult patients with newly diagnosed chronic myeloid leukemia (CML).

28 Jul 2012

EC approves Vertex's KALYDECO for treatment of cystic fibrosis

Vertex Pharmaceuticals Incorporated announced today that the European Commission has approved KALYDECOTM (ivacaftor) for people with cystic fibrosis (CF) ages 6 and older who have at least one copy of the G551D mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

28 Jul 2012

PedBrain Tumor network publishes evaluation of first 125 genome analyses of medulloblastomas

Brain tumors are the primary cause of cancer mortality in children. Even if a cure is possible, young patients often suffer from the stressful treatment which can be harmful to the developing brain. The most common childhood brain tumors are medulloblastoma and pylocytic astrocytoma.

27 Jul 2012

HIV drug resistance: an interview with Dr. Silvia Bertagnolio

Sexual intercourse is the major mode of HIV transmission. HIV may also be transmitted through sharing of needles or contaminated blood products (although this is rare).

27 Jul 2012

Bone marrow transplant eradicates traces of HIV in men

Two men with longstanding HIV infections no longer have detectable HIV in their blood cells following bone marrow transplants. The virus was easily detected in blood lymphocytes of both men prior to their transplants but became undetectable by eight months post-transplant. The men, who were treated at Brigham and Women's Hospital (BWH), have remained on anti-retroviral therapy.

27 Jul 2012

Fusion of FGFR and TACC gene leads to glioblastoma

Researchers at Columbia University Medical Center (CUMC) have discovered that some cases of glioblastoma, the most common and aggressive form of primary brain cancer, are caused by the fusion of two adjacent genes.

26 Jul 2012

Rapamycin improves function and extends survival in mice with DCM and rare muscular dystrophies

Rapamycin, an immunosuppressant drug used in a variety of disease indications and under study in aging research labs around the world, improved function and extended survival in mice suffering from a genetic mutation which leads to dilated cardiomyopathy (DCM) and rare muscular dystrophies in humans.

26 Jul 2012

Vitamin B12 supplements and hepatitis C treatment: an interview with Gerardo Nardone and Alba Rocco

Since its discovery in 1989, hepatitis C virus (HCV) has been recognized as a major cause of chronic liver disease worldwide. The most recent WHO estimate of the prevalence of HCV infection is 2%, representing . about 150 million people. Every year, 3–4 million new people are infected with the hepatitis C virus, of those, approximately 60–80% develop chronic hepatitis, and 30% of them progress to cirrhosis and to end-stage liver disease.

26 Jul 2012

AAQ chemical temporarily restores vision in blind mice

A team of University of California, Berkeley, scientists in collaboration with researchers at the University of Munich and University of Washington in Seattle has discovered a chemical that temporarily restores some vision to blind mice, and is working on an improved compound that may someday allow people with degenerative blindness to see again.

26 Jul 2012

Researchers discover new cause of congenital myopathy

University of Michigan researchers have discovered a new cause of congenital myopathy: a mutation in a previously uncharacterized gene, according to research published this month in the American Journal of Human Genetics.

26 Jul 2012

Low blood anticoagulant levels increase risk for VTE

Low plasma levels of antithrombin, protein C, and protein S significantly increase the risk for venous thromboembolism, Italian research shows.

25 Jul 2012

Study identifies MDM4 protein as promising target for treatment of melanoma

A melanoma is a malignant form of skin cancer and is one of the most aggressive types of tumors there is. Treatment is particularly difficult, because melanomas are usually resistant against conventional chemotherapy treatments.

24 Jul 2012

PTC Therapeutics completes $30M financing

PTC Therapeutics, Inc. (PTC) today announced the completion of a $30 million financing. The round included a number of long-term investors such as Credit Suisse First Boston Equity Partners, HBM BioVentures, Vulcan Ventures, Celgene, Delphi Ventures, The Column Group, Novo A/S, and other existing investors.

23 Jul 2012

Genetic underpinnings of Wiedemann-Steiner syndrome identified

Researchers have identified a genetic underpinning of Wiedemann-Steiner syndrome.

23 Jul 2012

Researchers uncover protein structure that regulates blood cell formation and activity

A Finnish research team together with researchers from New York, USA, has uncovered a protein structure that regulates cell signalling and the formation of blood cells. The team's results, published in Nature Structural & Molecular Biology, the most prestigious journal in the field, shed light on the mechanisms at play in haematological disorders and provide new opportunities for the design of disease-specific treatment.

23 Jul 2012

Foundation Fighting Blindness grants US$125,000 to Oxford BioMedica for UshStat Phase I/IIa trial

Oxford BioMedica plc, the leading gene-based biopharmaceutical company, today announces that the US non-profit organisation, the Foundation Fighting Blindness (FFB), has granted an award of US$125,000 to the Company via its translational research arm, the Foundation Fighting Blindness Clinical Research Institute (FFBCRI) formerly known as the National Neurovision Research Institute (NNRI).

23 Jul 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

Researchers identify high ARV drug exposure in hair samples of HIV uninfected infants

Researchers from the University of California, San Francisco (UCSF) and Makerere University in Uganda have used hair and blood samples from three-month old infants born to HIV-positive mothers to measure the uninfected babies' exposure—both in the womb and from breast-feeding—to antiretroviral medications their mothers were taking. The results, they said, are surprising.

23 Jul 2012

Mutation News and Research

Researchers discover gene mutations in patients with alternating hemiplegia of childhood

Researchers isolate elusive human gene that causes NMNAT1-related Leber congenital amaurosis

ARIAD Pharmaceuticals commences ponatinib Phase 3 trial in newly diagnosed CML

EC approves Vertex's KALYDECO for treatment of cystic fibrosis

PedBrain Tumor network publishes evaluation of first 125 genome analyses of medulloblastomas

HIV drug resistance: an interview with Dr. Silvia Bertagnolio

Bone marrow transplant eradicates traces of HIV in men

Fusion of FGFR and TACC gene leads to glioblastoma

Rapamycin improves function and extends survival in mice with DCM and rare muscular dystrophies

Vitamin B12 supplements and hepatitis C treatment: an interview with Gerardo Nardone and Alba Rocco

AAQ chemical temporarily restores vision in blind mice

Researchers discover new cause of congenital myopathy

Low blood anticoagulant levels increase risk for VTE

Study identifies MDM4 protein as promising target for treatment of melanoma

PTC Therapeutics completes $30M financing

Genetic underpinnings of Wiedemann-Steiner syndrome identified

Researchers uncover protein structure that regulates blood cell formation and activity

Foundation Fighting Blindness grants US$125,000 to Oxford BioMedica for UshStat Phase I/IIa trial

Researchers identify several gene mutations responsible for medulloblastoma

Researchers identify high ARV drug exposure in hair samples of HIV uninfected infants

Industry Focus eBook - Neurology/Neuroscience - 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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