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Shire announces availability of Natpara (parathyroid hormone) for injection in U.S.

Shire plc today announced that Natpara (parathyroid hormone) for injection is now available in the United States. The U.S. Food and Drug Administration approved Natpara as an adjunct to calcium and vitamin D to control hypocalcemia in patients with hypoparathyroidism on January 23, 2015.

1 Apr 2015

Patient's own skin cells may hold key to new treatments for neurological diseases

A patient's very own skin cells may hold the key to new treatments and even cures for devastating neurological diseases. A generous $1 million donation from Mr. J. Sebastian van Berkom, and critical partnerships with Brain Canada, Laval University, Marigold Foundation and the FRQS-Réseau Parkinson Quebec are driving an innovative, iPSC (induced pluripotent stem cell) research platform that will transform research into Parkinson's and other neurological diseases.

31 Mar 2015

Research reveals stark variation in genetic tests for inherited eye disease in England

New research from The University of Manchester published in the Journal of Community Genetics reveals a stark variation in genetic testing services for inherited eye disease in England.

31 Mar 2015

Study shows stark variation in genetic testing services for inherited eye conditions in England

New research from The University of Manchester published in the Journal of Community Genetics reveals a stark variation in genetic testing services for inherited eye disease in England.

31 Mar 2015

Researchers identify potential drug molecule that kills cancer cells

The average living cell needs communication skills: It must transmit a constant stream of messages quickly and efficiently from its outer walls to the inner nucleus, where most of the day-to-day decisions are made.

31 Mar 2015

Researchers uncover relationship between two proteins linked to cerebral cavernous malformations

Researchers have uncovered new details about the relationship between two proteins associated with the formation of cerebral cavernous malformations, a little understood neurovascular disorder.

31 Mar 2015

New drug shows potential against rare type of acute leukemia

Researchers at the University of Michigan Comprehensive Cancer Center have developed a new drug that shows potential in laboratory studies against a rare type of acute leukemia. And additional studies suggest the same compound could play a role in prostate cancer treatment as well.

30 Mar 2015

Study finds link between neurodegenerative disorders and inflammation

Researchers from McMaster University and the Icahn School of Medicine at Mount Sinai, New York have discovered that a protein associated with neurodegenerative diseases like ALS also plays an important role in the body's natural antiviral response.

30 Mar 2015

CNIO researchers describe presence of MDH2 gene mutations in hereditary neuroendocrine tumors

Researchers in the Hereditary Endocrine Cancer Group of the Spanish National Cancer Research Centre -- led by Alberto Cascón and Mercedes Robledo -- have described the presence of mutations in the MDH2 gene, in a family with very rare neuroendocrine tumours associated with a high hereditary component: pheochromocytomas and paragangliomas that affect the suprarenal and parathyroid glands (groups of chromaffin cells in the central nervous system), respectively.

30 Mar 2015

Caris Life Sciences study may have potentially significant benefit in patients with uterine cancer

Caris Life Sciences today announced the presentation of a study that found drugs targeting specific pathways may have potentially significant benefit in a select subset of patients with uterine cancer. The study results were highlighted today in an oral presentation in a Plenary Session at the Society of Gynecologic Oncology 2015 Annual Meeting on Women's Cancer in Chicago, Ill.

30 Mar 2015

Big data helps discover gephyrin protein's connection in human history

Big data: It's a term we read and hear about often, but is hard to grasp. Computer scientists at Washington University in St. Louis' School of Engineering & Applied Science tackled some big data about an important protein and discovered its connection in human history as well as clues about its role in complex neurological diseases.

30 Mar 2015

Synageva announces submission of Kanuma application to Cofepris for treatment of LAL Deficiency

Synageva BioPharma Corp., a biopharmaceutical company developing therapeutic products for rare disorders, announced today the submission to the Comisión Federal para la Protección contra Riesgos Sanitarios in Mexico for Kanuma as a treatment for patients with lysosomal acid lipase deficiency (LAL Deficiency), a rare genetic disease with significant morbidity and early mortality.

30 Mar 2015

New study opens door to preventative treatments for congenital diaphragmatic hernia

Congenital diaphragmatic hernia (CDH) is not as well known as muscular dystrophy and cystic fibrosis, but like them it is a life-threatening birth defect, and is just as common. Occurring in one in 3,000 births, CDH causes the guts and liver to protrude through a defective diaphragm and into the chest cavity, where they interfere with the lungs.

30 Mar 2015

MDC scientists find solution to increase efficiency of precise genetic modifications

CRISPR-Cas9 is a powerful new tool for editing the genome. For researchers around the world, the CRISPR-Cas9 technique is an exciting innovation because it is faster and cheaper than previous methods. Now, using a molecular trick, Dr. Van Trung Chu and Professor Klaus Rajewsky of the Max Delbrück Center for Molecular Medicine Berlin-Buch and Dr. Ralf Kühn, MDC and Berlin Institute of Health, have found a solution to considerably increase the efficiency of precise genetic modifications by up to eightfold.

30 Mar 2015

Rare genetic mutation explains why flu can kill in rare cases

Nobody likes getting the flu, but for some people, fluids and rest aren't enough. A small number of children who catch the influenza virus fall so ill they end up in the hospital — perhaps needing ventilators to breathe — even while their family and friends recover easily. New research by Rockefeller University scientists, published March 26 in Science, helps explain why: a rare genetic mutation.

30 Mar 2015

Researchers harness gene editing technique in mosquito that infects people with deadly diseases

Traditionally, to understand how a gene functions, a scientist would breed an organism that lacks that gene - "knocking it out" - then ask how the organism has changed. Are its senses affected? Its behavior?

30 Mar 2015

UAB scientist explores the bone development function of runx2 gene

Amjad Javed, Ph.D., of the University of Alabama at Birmingham, has taken a major step forward in understanding the bone development function of a gene called runx2, which could lead to future ways to speed bone healing, aid bone bioengineering, stem osteoporosis and reduce arthritis.

30 Mar 2015

Study: Blood test may help diagnose Fragile X syndrome related disorders in women

A blood test may shed new light on Fragile X syndrome related disorders in women, according to a new study published in the March 25, 2015, online issue of Neurology, the medical journal of the American Academy of Neurology. Fragile X is the most common inherited form of intellectual disability and the most frequent genetic cause of autism.

30 Mar 2015

Moffitt researchers use integrative approaches to study cancer heterogeneity

Moffitt Cancer Center researchers are using integrative approaches to study cancer by combining mathematical and computational modeling with experimental and clinical data. The use of integrative approaches enables scientists to study and model cancer progression in a manner that conventional experimental systems are unable to do.

29 Mar 2015

Experts unveil strategic roadmap to advance treatments for people with lymphoma

A committee of lymphoma experts today unveiled a strategic roadmap identifying key priority areas in both infrastructure and research that will be critical for advancing treatments for people with lymphoma.

27 Mar 2015

Mutation News and Research

Shire announces availability of Natpara (parathyroid hormone) for injection in U.S.

Patient's own skin cells may hold key to new treatments for neurological diseases

Research reveals stark variation in genetic tests for inherited eye disease in England

Study shows stark variation in genetic testing services for inherited eye conditions in England

Researchers identify potential drug molecule that kills cancer cells

Researchers uncover relationship between two proteins linked to cerebral cavernous malformations

New drug shows potential against rare type of acute leukemia

Study finds link between neurodegenerative disorders and inflammation

CNIO researchers describe presence of MDH2 gene mutations in hereditary neuroendocrine tumors

Caris Life Sciences study may have potentially significant benefit in patients with uterine cancer

Big data helps discover gephyrin protein's connection in human history

Synageva announces submission of Kanuma application to Cofepris for treatment of LAL Deficiency

New study opens door to preventative treatments for congenital diaphragmatic hernia

MDC scientists find solution to increase efficiency of precise genetic modifications

Rare genetic mutation explains why flu can kill in rare cases

Researchers harness gene editing technique in mosquito that infects people with deadly diseases

UAB scientist explores the bone development function of runx2 gene

Study: Blood test may help diagnose Fragile X syndrome related disorders in women

Moffitt researchers use integrative approaches to study cancer heterogeneity

Experts unveil strategic roadmap to advance treatments for people with lymphoma

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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