Sentences with phrase «on duchenne»

Bridget Waller, a psychologist at the University of Portsmouth in England, and her colleagues demonstrated this with a new twist on Duchenne's old research.

Not exact matches

And Crispr - Cas9 isn't even the only type of Crispr out there: On April 12, researchers at the University of Texas Southwestern Medical Center announced they had successfully paired the gene - editing tool with a different kind of enzyme, called Cpf1, to correct mutations associated with the devastating muscle - wasting disorder Duchenne muscular dystrophy.

And Marathon barely did any actual clinical legwork to get the drug cleared for Duchenne — it relied on 1990 - era clinical trial data before tacking on just enough study material to win an approval that doesn't even address the root cause of the disease.

Making a genuine smile — also known as a Duchenne smile — is nearly impossible to do on command.

Still, the fact that 250 Duchenne patients are willing to take a chance on the drug despite insurer pushback is a positive sign for Sarepta.

• Exonics Therapeutics, Inc, a Boston - based biotechnology company focused on developing SingleCut CRISPR technology to repair mutations causing Duchenne muscular dystrophy and other neuromuscular diseases, raised $ 40 million in Series A funding.

Here's some of what's going on in the health care world as we head into Easter weekend: payers are pushing back against PTC Therapeutcics» controversial Duchenne muscular dystropy drug; insurers are cautiously lauding new rules for Obamacare's marketplaces; a fascinating lawsuit in Arkansas explores the ethics of drug making; and a new test for Zika virus can produce results within an hour.

Testing on the genetic link for cystic fibrosis, Huntington's disease, Duchenne's muscular dystrophy and other diseases indicates that environmental influences, especially the health and habits of the mother, determine to some extent the form and severity of an offspring's disease.

This is very encouraging as I'm trying to figure out how to take my 11yo son with Duchenne muscular dystrophy on hikes with us.

Gersbach has been working on potential genetic treatments for Duchenne with various gene - altering systems since starting his lab at Duke in 2009.

Whilst there I worked on a research project studying the genetics of inherited deafness and also performed routine genetic screening and prenatal diagnoses for diseases such as Duchenne muscular dystrophy and cystic fibrosis.

The test developed can be carried out on mothers at risk of X-linked genetic recessive diseases including haemophilia and Duchenne muscular dystrophy and mothers at risk of haemolytic disease of the new - born.

Duchenne could only put electrodes on the skin of his subjects; Waller and her colleagues today can insert fine needles into the muscles themselves.

The study, published in Nature Medicine on November 16, 2015, is the first to show that Duchenne muscular dystrophy directly affects muscle stem cells.

But there's a great deal of overlap: For example, CRISPR Therapeutics and Editas have both made sickle cell disease and Duchenne muscular dystrophy a priority, and Intellia and Editas both have programs targeting the liver disease α - 1 antitrypsin deficiency and collaborations that focus on engineering T cells to fight cancer.

The research, which appears online Aug. 1 in the journal Annals of Neurology, is the first study from a double - blind controlled randomized trial of an exon - skipping agent to provide conclusive proof based on the standard six - minute walk test used to measure muscle function in patients with Duchenne muscular dystrophy (DMD), the most common form of muscular dystrophy in children.

While years of being on the steroids cause growth suppression, osteoporosis and other bad side effects, boys with Duchenne Muscular Dystrophy walk two to three years longer if they take steroids.

If you took high school biology in the 1990s, you probably learned about the molecular basis for human genetic disorders such as cystic fibrosis (1989), Huntingtons (1993), Duchenne and Becker muscular dystrophy (1987), and a rapidly growing list of single - gene disorders, and the correspondingly rapid growth in clinical diagnostic technology based on DNA sequence information, enabling certain diagnosis, sometimes before the advent of overt symptoms.

Researchers from the two institutions are working together on the next generation of robotic exoskeletons to improve mobility and to enable safer, more independent functioning for people with spinal cord injuries (SCI), Duchenne Muscular Dystrophy, and stroke.

Presentations included: Genetics Primer & Clinical Updates by Angelika Erwin, MD, PhD, Expanded Carrier Screening — What you Need to Know by Amy Shealy, MS, LGC, Recent Advances in the Treatment and Management of Cystic Fibrosis by Silvia Cardenas, MD, Advances in the Management of Duchenne Muscular Dystrophy by Neil Freidman, MBChB, Autism Genetics — PTEN and beyond by Thomas W. Frazier, PhD, Thoracic Aorta Aneurysm and Dissection by Apostolos «Paul» Psychogios, MD, FACMG, Update on Clinical Breast Cancer Genetics by Holly Pederson, MD, Colon Cancer by Brandie Leach, MS, LGC and The Role of Biomarkers in Current Diagnosis of Alzheimer's Disease by Jagan Pillai, MD, PhD.

Multiple research groups and companies are hot on the tracks of unleashing CRISPR on sickle cell disease, hemophilia, cystic fibrosis, Duchenne muscular dystrophy, genetic forms of blindness, and, of course, cancer.

Following the partial clinical hold placed on the high dose of SGT - 001 in Solid Biosciences Inc.'s (MA, USA) trial program for Duchenne muscular dystrophy, the FDA's questions regarding the manufacture of the product have been addressed, resulting in the hold being lifted.

«This important new finding by Dr. Rudnicki and colleagues sheds light on the processes underlying Duchenne muscular dystrophy, and carries significant implications for experimental approaches to treating the disease.

Your support continues to allow us to work on attacking Duchenne from every angle.

PPMD is seeking adult members of our Duchenne / Becker community to serve on the 2018 PPMD Adult Advisory Committee (PAAC).

On Thursday, September 28, an FDA Advisory Committee will review ataluren for potential approval and use within our Duchenne community.

PPMD and FibroGen recently hosted a webinar to hear a community update on FibroGen's development of Pamrevlumab and currently enrolling FGCL -3019-079 non-ambulatory study in Duchenne.

We must urge the Senate to protect people with Duchenne by voting «NO» on the Graham - Cassidy proposal.

PPMD and Action Duchenne hosted a webinar update last week on the recent report that Summit has announced positive 24 - week interim results from the open - label Phase 2 proof of concept clinical trial, PhaseOut DMD.

UPDATE 9/9/16: The SRPT stock jumped in price to over $ 53 a share today (9/19/16) on the news that Sarepta's drug, Exondys 51, which treats Duchenne muscular dystrophy has been given accelerated approval.

Stephane Duchenne talks to Breaking Travel News at World Travel Awards Asia & Australasia Gala Ceremony hosted at the Anantara Dubai The Palm Resort & Spa on 1st October 2013.