Sentences with phrase «in duchenne»

The momentum in Duchenne research has never felt more active and promising.

Bethesda, Md. (February 28, 2018)-- A new study finds that muscle fibers in Duchenne muscular dystrophy (DMD) split during regeneration to such an extreme that the muscle is weakened beyond repair.

Pulmonary management in Duchenne (all of the care involved with breathing and coughing) can be confusing and difficult to understand.

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.

Steroid dosing in Duchenne can be a confusing topic what is enough, what is too much, why weekend doses are higher.

He has been involved in the identification of genes altered to cause muscular dystrophy since his 1986 identification of dystrophin as the causative gene in Duchenne muscular dystrophy.

Pre-treatment with antisense oligonucleotides improves gene therapy efficacy in Duchenne muscular dystrophy

«Restoring breathing capacity in Duchenne muscular dystrophy by activating the brain.»

The study, appearing in the Journal of the American Heart Association, is the first to identify predictors of poor outcomes in Duchenne muscular dystrophy (DMD) patients, said senior author Dr. Pradeep Mammen, a heart failure specialist at UT Southwestern Medical Center.

They found the same drug will also switch off similar signals in a protein implicated in Duchenne Muscular Dystrophy (DMD).

Not exact matches

«The Duchenne smile involves both voluntary and involuntary contraction from two muscles: the zygomatic major (raising the corners of the mouth) and the orbicularis oculi (raising the cheeks and producing crow's feet around the eyes),» according to Adoree Durayappah in Psychology Today.

The product that Aronin cites, Sarepta Therapeutics» Exondys 51, is the only cleared treatment to treat the protein deficiency which causes Duchenne in the U.S., and has also enjoyed its fair share of controversy.

«Since last week's approval, we have heard both support from the community, and concerns about how the pricing and reimbursement details will affect individual patients and caregivers, such as how it effects coverage of other Duchenne products, such as EXONDYS 51,» wrote Aronin in a blog post for a Duchenne patient advocacy site.

• 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.

And since the treatment isn't already approved in the U.S. for other, cheaper indications, there's no risk of doctors prescribing it for off - label purposes to Duchenne patients.

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.

I say «curious» because Marathon came under intense scrutiny for its initial plans to hike the drug's price to $ 89,000 per year even though it's available for a mere pittance in other countries (and doesn't actually address the root causes of Duchenne, but rather just some of its muscle - wasting symptoms).

Duchenne drugs have fostered recent controversy in the U.S..

The treatment is being hawked to PTC Therapeutics, which has also been trying (and, so far, not succeeding) in getting a Duchenne treatment to market for $ 75 million in cash and $ 65 million in PTC common stock.

PTCT, +3.33 % plans to buy privately - held Marathon Pharmaceuticals» controversial Duchenne muscular dystrophy drug for about $ 75 million in cash and $ 65 million in PTC common stock.

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

Researchers from Duke University had previously used CRISPR to correct genetic mutations in cultured cells from Duchenne patients, and other labs had corrected genes in single - cell embryos in a laboratory environment.

«These results further support our clinical findings demonstrating the production of full - length functional protein in nonsense mutation Duchenne muscular dystrophy and cystic fibrosis,» said Stuart W. Peltz, Ph.D., co-founder and chief executive officer of PTC Therapeutics.

The results showed some correction of muscles throughout the body, including in the heart — a major victory because heart failure is often the cause of death for Duchenne patients.

The new study, called FOR - DMD (Finding the Optimum Regimen of Corticosteroids for Duchenne Muscular Dystrophy), will determine whether daily steroid treatment or an alternative regime is more effective in slowing the disease progression and managing side effects.

A study published by scientists at University of Massachusetts Medical School and the University of Alabama at Birmingham provides insight into the mechanism of action of the drug ataluren, which is showing promise in treating Duchenne muscular dystrophy and cystic fibrosis.

In their research, authors Sajedah M. Hindi, Ph.D., and Ashok Kumar, Ph.D., discovered that removing TRAF6 depletes Pax7, resulting in reduced muscle regeneration in both normal and Duchenne muscular dystrophy (DMD) mouse modelIn their research, authors Sajedah M. Hindi, Ph.D., and Ashok Kumar, Ph.D., discovered that removing TRAF6 depletes Pax7, resulting in reduced muscle regeneration in both normal and Duchenne muscular dystrophy (DMD) mouse modelin reduced muscle regeneration in both normal and Duchenne muscular dystrophy (DMD) mouse modelin both normal and Duchenne muscular dystrophy (DMD) mouse models.

Duchenne muscular dystrophy is caused by mutations in a huge gene called dystrophin.

The UT Southwestern group had previously used CRISPR - Cas9, the original gene - editing system, to correct the Duchenne defect in a mouse model of the disease and in human cells.

The researchers not only looked into a technical solution, they also obtained more insight into the development of arm function in boys and men with Duchenne Muscular Dystrophy through the Duchenne Dynamic Arm Study (DDAS).

(Previously, scientists had used CRISPR / Cas9 to repair mutations that affect smaller numbers of people with Duchenne, and in cell types that weren't necessarily clinically relevant.)

The result was the largest deletion ever observed in the dystrophin gene using CRISPR / Cas9, and the study was the first to create corrected human iPS cells that could directly restore functional muscle tissue affected by Duchenne.

The CRISPR / Cas9 platform for Duchenne developed by the UCLA scientists is not yet available in clinical trials and has not been approved by the FDA for use in humans.

Inheriting a single X chromosome exposes men to a host of X-linked diseases, such as hemophilia or Duchenne muscular dystrophy, and researchers hope to use the new data to understand more fully the role of genes in other X-linked conditions.

Using the new gene - editing enzyme CRISPR - Cpf1, researchers at UT Southwestern Medical Center have successfully corrected Duchenne muscular dystrophy in human cells and mice in the lab.

Once the UCLA researchers had produced iPS cells that were free from Duchenne mutations, they differentiated the iPS cells into cardiac muscle and skeletal muscle cells and then transplanted the skeletal muscle cells into mice that had a genetic mutation in the dystrophin gene.

Next, the scientists removed the Duchenne mutations in the iPS cells using a gene editing platform they developed that uses the CRISPR / Cas9 technology.

I feel like I'm contributing and I'm excited because the field of Duchenne research is advancing in a really positive direction.»

Duchenne mutations cause abnormally low production of the dystrophin protein, which in turn causes muscles to degenerate and become progressively weaker.

In order to assess their design, the researchers compared the arm functionality of boys with Duchenne with and without A-Gear arm support.

They had been working with a worm model of Duchenne muscular dystrophy, a severe form of the disease that strikes young boys and is caused by mutations in the gene that encodes the dystrophin protein.

«We took patient - derived cells that had the most common mutation responsible for Duchenne muscular dystrophy and we corrected them in vitro to restore production of the missing dystrophin protein in the cells.

Duchenne typically occurs through one mutation in a gene called dystrophin, which makes a protein with the same name.

«By either skipping a mutation region or precisely repairing a mutation in the gene, CRISPR - Cpf1 - mediated genome editing not only corrects Duchenne muscular dystrophy mutations but also improves muscle contractility and strength,» said co-author Dr. Rhonda Bassel - Duby, Professor of Molecular Biology and Associate Director of the Hamon Center for Regenerative Science and Medicine.

Duchenne muscular dystrophy is caused by a mutation to one of the longest genes in the body.

The UCLA researchers plan to develop strategies to test the Duchenne - specific CRISPR / Cas9 platform to treat the disease in animals as the next step toward perfecting a method that can be used in humans.

Duchenne Muscular Dystrophy occurs in approximately 1 in 5000 live born boys.

The stem cell gene therapy could be applicable for 60 percent of people with Duchenne, which affects approximately 1 in 5,000 boys in the U.S. and is the most common fatal childhood genetic disease.

In worms, muscles normally harbor a newly found acetylcholine transporter to help them work, like those shown here, but those with a disease resembling Duchenne muscular dystrophy lack the molecule.

UT Southwestern Medical Center researchers successfully used a new gene editing method to correct a mutation that leads to Duchenne muscular dystrophy (DMD) in a mouse model of the condition.