Researchers have identified the first gene mutation associated with a chronic and often fatal form of neuroblastoma that typically strikes adolescents and young adults. The finding provides the first clue about the genetic basis of the long-recognized but poorly understood link between treatment outcome and age at diagnosis.
The study involved 104 infants, children and young adults with advanced neuroblastoma, a cancer of the sympathetic nervous system. Investigators discovered the ATRX gene was mutated only in patients age 5 and older. The alterations occurred most often in patients age 12 and older. These older patients were also more likely than their younger counterparts to have a chronic form of neuroblastoma and die years after their disease is diagnosed.
To view Multimedia News Release, go to http://www.multivu.com/mnr/52992-st-jude-pediatric-cancer-genome-project-neuroblastoma-research
Researchers studying the genetic roots of the most common malignant childhood brain tumor have discovered missteps in three of the four subtypes of the cancer that involve genes already targeted for drug development.
Symptoms improved significantly in adults with the bleeding disorder hemophilia B following a single treatment with gene therapy developed by researchers at St. Jude Children’s Research Hospital in Memphis and demonstrated to be safe in a clinical trial conducted at the University College London (UCL) in the U.K.
The findings of the six-person study mark the first proof that gene therapy can reduce disabling, painful bleeding episodes in patients with the inherited blood disorder. Results of the Phase I study appear in the December 10 online edition of the New England Journal of Medicine. The research is also scheduled to be presented December 11 at the 53rd annual meeting of the American Society of Hematology in San Diego.
To view Multimedia News Release, go to http://www.multivu.com/mnr/46766-st-jude-children-s-research-hospital-gene-therapy-bleeding-disorder
Research led by the St. Jude Children’s Research Hospital – Washington University Pediatric Cancer Genome Project has identified a fusion gene responsible for almost 30 percent of a rare subtype of childhood leukemia with an extremely poor prognosis.
The finding offers the first evidence of a mistake that gives rise to a significant percentage of acute megakaryoblastic leukemia (AMKL) cases in children. AMKL accounts for about 10 percent of pediatric acute myeloid leukemia (AML). The discovery paves the way for desperately needed treatment advances.
To view Multimedia News Release, go to http://www.multivu.com/mnr/58586-st-jude-children-s-research-hospital-gene-sequencing-childhood-leukemia
Asuragen Inc., a leading molecular diagnostics company, today announced results from a study demonstrating that a new molecular test called Xpansion Interpreter® can improve the determination of a woman’s risk of having a child with fragile X syndrome, the most common inherited cause of intellectual disability and autism, compared to existing risk measures. The Xpansion Interpreter Test is based on a technology breakthrough that reveals both the number and position of “interrupting” DNA sequences in the fragile X gene of the mother and more accurately estimates the likelihood that her child will have fragile X syndrome. The study will be published in the April issue of the American Journal of Medical Genetics and presented today at the 2013 American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting in Phoenix, AZ.
To view Multimedia News Release, go to http://www.multivu.com/mnr/60719-asuragen-xpansion-interpreter-xi-test-data-fragile-x-syndrome-autism
Beim großen Golf GTI-Treffen am Wörthersee enthüllte Audi seinen TT ultra quattro concept - eine Technikstudie, die minimales Gewicht und maximale Sportlichkeit vereint. Diese Sportlichkeit bekamen die Fans auch von der breiten Palette der High-Performance-Cars geboten. Neben dem legendären Sport quattro S1 standen aktuelle RS-Modelle und reinrassige Rennboliden zur Schau. Und auch der Audi R18 e-tron quattro war am See dabei. Im Mittelpunkt des Audi-Auftritts stand aber das TT ultra quattro concept. Das Showcar vereint schlanke 1.111 Kilogramm Gesamtgewicht mit einem 2.0 TFSI-Motor, dessen 228 kW/310 PS und 400 Nm leichtes Spiel mit dem Coupé haben. Aus dem Stand katapultiert sich der TT ultra quattro concept in 4,2 Sekunden auf 100 km/h. Sein Leistungsgewicht von 3,6 kg/PS liegt auf dem Niveau reinrassiger Supersportwagen. Und es lohnt sich auch der Blick ins Detail, schließlich macht das Konzeptauto den automobilen Leichtbau sichtbar. Schon das aktuelle Serienauto mit einem Karosserie-Gewicht von nur 206 Kilogramm plus 98 Kilogramm für die Anbauteile ist ein Beleg für die hohe Leichtbau-Kompetenz von Audi. Für die Karosserie des Wörthersee-Showcars haben die Ingenieure aus Ingolstadt und Neckarsulm den Audi Space Frame (ASF) der aktuellen TT-Generation konsequent weiterentwickelt und die Karosseriestruktur noch einmal um 43 Kilogramm abgespeckt. Zusammen mit den optimierten Anbauteilen ergeben sich 100 Kilogramm Gewichtseinsparung. Die Kombination aus Leichtigkeit und Sportlichkeit spiegelt sich auch in der Optik wieder. Im Vergleich zum Serienmodell haben die Audi Designer die Konturen des Showcars noch einmal deutlich gestrafft. Mit seinen großen Spoilern stellt der TT ultra quattro concept seine Motorsport-Gene zur Schau. So ist der Fuß des Heckflügels als tragendes Bauteil aus gefrästem Aluminium gefertigt, der Flügel als funktionales Element hingegen aus sichtbarem Carbon. Zu den weiteren Highlights am Wörthersee zählte der neue Audi RS 6 Avant. Das Hochleistungsmodell der quattro GmbH bietet mehr Effizienz und stärkere Fahrleistungen bei verringertem Gewicht. Und natürlich durfte auch der neue RS 7 Sportback fehlen. Sein starkes Herz ist ebenfalls der 4.0 TFSI V8 Biturbo. Die Leistung von 412 kW / 560 PS liegt im Bereich von 5.700 bis 6.600 Umdrehungen an. Zwischen 1.750 und 5.500 1/min sind konstant 700 Nm Drehmoment verfügbar. Neben dem raketenartigen Schub ist der Sound ein wichtiger Bestandteil des Fahrerlebnisses: Auf Tastendruck und beim kräftigen Gas geben sorgen schaltbare Klappen in der Abgasanlage für einen noch volleren Klang, optional montiert Audi eine Sport-Abgasanlage. Ebenso auf dem Audi Stand präsentierte sich der neue Audi RS Q3 als erstes RS-Modell in der erfolgreichen Q Familie. Es ist das vierte Modell, das die quattro GmbH in diesem Jahr auf den Markt bringen wird. Mit dem 2.5 TFSI-Motor, der mit einer Spitzenleistung von 228 kW /310 PS aufwartet, steckt ein preisgekrönter Hochleistungsmotor unter der Haube des RS Q3.
Visit Roger Dalton at http://www.rogerdalton.ca ROGER DALTON - "Hell Sounds Like Heaven" (Official Music Video) - dir.Gene Greenwood
Roger Dalton and The Dalton Gang
Music Producer: Rob Begg
Editor: Gene Greenwood
Video Production: Farting Puppy Productions
Support the Roger Dalton & The Dalton Gang at www.rogerdalton.ca
Shot in in a secret location north of the Equator
Special thanks to Patricia Simon, Chris Jeklin, Aurora Morris and "Black Beauty", Joyce Soda and her gun control, and everyone else that showed up and drank my beer and whiskey.
A Princess of Roumania fantasy, with an extraordinary, intense, compressed SF novel in three parts, each set in its own alternate-history universe. The sections are all rooted in Virginia and the Battle of the Crater, and are also grounded in the real history of the Park family, from differing points of view.
The first section is set in the aftermath of the Civil War, in a world in which the Queen of the North has negotiated a two-nation settlement. The second, taking place in northwestern Massachusetts, investigates a secret project during World War II, in a time somewhat like the present. The third is set in the near-future United States, with aliens from history.
The cumulative effect is awesome. There hasn’t been a three part novel this ambitious in science fiction since Gene Wolfe’s classic The Fifth Head of Cerberus. Find out more at http://us.macmillan.com/allthosevanishedengines/PaulPark Fantasy/Scifi
The Pharmaceutical Research and Manufacturers of America (PhRMA) today released new advertising as part of its “From Hope to Cures” campaign, highlighting the stories of rare blood and lung cancer survivors.
The newest video in the collection features Matt, who was diagnosed nearly seven years ago with advanced non-small cell lung cancer. When he was diagnosed, he was given a slim chance of living up to five years. However, today Matt continues to lead an active life due to recent advancements in targeted gene therapies and innovations in cancer medicines.
The latest print and digital ads feature Jamie, a vibrant woman diagnosed 15 years ago with chronic myelogenous leukemia (CML). Watching her son grow up was a primary focus for her, and she’s been able to continue to do that and so much more. Thanks to advancements in CML treatments, today she maintains her sense of humor and imparts an infectious joy on those who meet her.
Earlier this year, the first collection of digital and print ads was released featuring Rhys, a five-year-old living with type 1 diabetes and celiac disease. Unveiled alongside the advertising was a video, titled “We’re Fighting Back,” which features both Rhys and Jamie, as well as Jen, a researcher who wakes up every day working to find new treatments and cures for patients.
To view the multimedia release go to:
http://www.multivu.com/players/English/7738431-phrma-from-hope-to-cures/
The Meta “Heart 2 Heart” campaign, created to encourage more family dialogue about heart health, enlisted Emmy award-winning talk show host Michael Strahan to help jumpstart conversations during National Heart Month in February and beyond. Meta, the #1 doctor and pharmacist recommended fiber brand, is proven to help lower cholesterol to promote heart health† when paired with a healthy diet.
In an effort to lead by example and put his professional talk show expertise to use in a fresh way, Strahan invited the cameras in to capture his own personal father-son heart conversation, including practical tips on how to lead a heart-healthy lifestyle. The “Heart 2 Heart” video, now available for viewing on YouTube, will also be featured at this weekend’s Dad 2.0 Summit in Washington D.C., where over 400 influential dad bloggers will discuss the “new normal” of fatherhood. As a father himself, Michael Strahan will speak at the conference alongside Dr. Charles Lambert, Preventative Cardiologist at Florida Hospital, to discuss his role as a dad, the male influences in his life that contributed to his success, and how he maintains a heart-healthy lifestyle amid a growing busy schedule.
To view the multimedia release go to:
http://www.multivu.com/players/English/7764251-meta-michael-strahan-heart-2-heart/
Adolescents and young adults with a severe inherited immunodeficiency disorder improved following treatment with novel gene therapy developed at St. Jude Children’s Research Hospital and at the National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health. The results of this study appear today in the journal Science Translational Medicine.
The study involved five males with X-linked severe combined immunodeficiency disease (SCID-X1), also known as “Bubble Boy” disease, who were all treated at NIAID. This inherited disorder involves a mutation in the IL2RG gene that affects males and occurs in 1 of every 50,000 to 100,000 live births, leaving them with little to no immune protection.
To view the multimedia release go to:
http://www.multivu.com/players/English/7808651-st-jude-gene-therapy-results/
