Sentences with phrase «dystrophy mutations»

«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.

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.

• 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.

Being X-linked, muscular dystrophy almost exclusively affects males, with many boys inheriting the mutation from their mother.

«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.

Huntington's disease, cystic fibrosis, and muscular dystrophy are all diseases that can be traced to a single mutation.

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

Meanwhile, the gene - rich X is the most intensely studied of the 23 chromosomes, largely because of its role in rendering men vulnerable to an estimated 300 genetic diseases and disorders associated with those mutations — from color blindness to muscular dystrophy to more than 200 brain disorders.

To test the platform, they obtained skin cells from consenting patients at the Center for Duchenne Muscular Dystrophy, all of whom had mutations that fell within the dystrophin gene hot spot.

«Gene mutations behind lack of a nose identified: Alterations in same gene previously associated with rare form of muscular dystrophy.»

Surprisingly, mutations in the same gene, SMCHD1, have previously been associated with a form of muscular dystrophy.

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

Muscular dystrophy, a disease caused by a genetic mutation on the X chromosome, primarily affects boys and comes in several varieties.

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.

The team also showed that they could recover muscle growth and function in mouse models of muscular dystrophy, a disease with a known gene mutation.

Researchers discovered three novel genetic mutations associated with Fuchs endothelial corneal dystrophy, the most common corneal disorder requiring transplantation.

The genetic mutation that causes Duchenne muscular dystrophy was discovered 30 years ago.

Myotonic dystrophy is due to a mutation leading to the expression of RNA containing long repetitive sequences of the CUG trinucleotide.

The researchers added a purified, concentrated form of THI to the food of young flies with the muscular dystrophy - like mutation.

A new form of congenital muscular dystrophy has been discovered which is caused by mutations in a previously un-linked gene.

Scientists have developed a CRISPR gene - editing technique that can potentially correct a majority of the 3,000 mutations that cause Duchenne muscular dystrophy (DMD) by making a single cut at strategic points along the patient's DNA, according to a study from UT Southwestern Medical Center.

If any of them contain mutations, this affects the creation of the sugar molecule and leads to muscular dystrophy.

They also note that Emery - Dreifuss muscular dystrophy results from mutations in the gene that codes for emerin.

Rapsyn mutations that result in receptors not clustering or functioning properly likely contribute to a wide range of muscle weakness seen in muscular dystrophy, Mei said.

Scientists have been especially curious about the role of TTLLs because mutations in these proteins have been linked to a range of neurodegenerative diseases, including retinal dystrophy and the rare Joubert syndrome.

Validating this original concept, we previously demonstrated that PGD - derived hES cells and their derivatives, which express the causal mutation implicated in the Myotonic Dystrophy type 1 (DM1), offer pertinent disease - cell models, applicable for a wide systemic mechanistic analysis ranging from functional studies at the cellular level to a large - scale drug screening.

The proof of concept of such approach has been initiated in the team on a PGD - derived hES cells carrying the causative mutation for Myotonic Dystrophy type 1 (DM1).

A genetic mutation common in the most severe forms of muscular dystrophy also predisposes to heart damage.

Part 2 of this two - part article reviews lessons from Spark Therapeutics» pivotal program for Luxturna, a gene therapy approved for the treatment of patients with retinal dystrophy associated with confirmed biallelic mutation in the RPE65 gene, and summarize key considerations for the clinical development and commercialization of gene therapies.

Validating this concept, we previously demonstrated that human pluripotent stem cells and derivatives which, express the causal mutation implicated in the Myotonic Dystrophy type 1 (DM1), offer pertinent disease - cell models, applicable for a wide systemic analysis ranging from mechanistic studies to therapeutic screening.

In human disease, a mutation from G to A is extremely common; these alterations have been implicated in, for example, cases of focal epilepsy, Duchenne muscular dystrophy, and Parkinson's disease.

This is already underway for a compound whose corrective effect was observed in cells carrying a mutation responsible for myotonic dystrophy type I.

Importantly, more that 400 different mutations in the lamin A gene have been reported, which are associated with a wide range of human degenerative diseases including muscular dystrophy, lipodystrophies and neuropathies.

We also identified the mutation for a new form of rostrocaudal muscular dystrophy that affects skeletal muscle tissues with an unusual front - to - back severity of symptoms.

Mutations in POMT genes are known to cause severe muscular dystrophies and neurological abnormalities.

The authors were able to correct mutations in several well - characterized genetic disorders, including: Duchenne Muscular Dystrophy, Achondroplasia, and MECP2 - duplication syndrome using cells derived from human patients.

In case of a genetic mutation, the normal functioning of the mitochondria is disrupted and it results in a variety of problems, including diabetes, muscular dystrophy, deafness, dementia and heart disease.

Multiplex CRISPR / Cas9 - based genome editing for correction of dystrophin mutations that cause Duchenne muscular dystrophy.

Lai and 28 colleagues reported their results last week in the Journal of Molecular Cell Biology, saying they intend to create dogs with other DNA mutations, including ones that mimic human diseases such as Parkinson's and muscular dystrophy.

Individuals with these mutations are often asymptomatic, or have only mild symptoms, a condition known as Becker muscular dystrophy (BMD).

Thursday, Oct. 20, 12:00 - 12:15 pm, Room 302, West Building Platform Presentation: Exon inclusion for the treatment of splice site mutation in merosin - deficient congenital muscular dystrophy D.U. Kemaladewi, Hospital for Sick Children, et al

Could a new CRISPR gene - editing technique correct a majority of the 3,000 mutations that cause Duchenne muscular dystrophy?

These mutations establish CMR as a novel animal model for Best macular dystrophy (BMD) in humans, an autosomal dominant, childhood retinal disease also caused by mutations in the Bestrophin gene [76, 77].

The mutation in NPHP4 described above, that causes an early onset cone - rod dystrophy in standard wire - haired dachshunds [49] was not present in the dachshunds studies by Miyadera, enabling that mutation to be excluded.

Tsuboi M, Watanabe M, Nibe K, Yoshimi N, Kato A, Sakaguchi M, et al. (2017) Identification of the PLA2G6 c. 1579G > A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis.

Testing and Breeding recommendations: Neuroaxonal Dystrophy (NAD) in Papillon dogs is inherited as an autosomal recessive trait, which means that only dogs that receive two copies of the mutation (one from each parent) will develop the disease.

Characterization of genetic mutations, genetic testing and development of gene - based therapies for muscular dystrophies and inherited metabolic brain diseases similar to Tay - Sachs disease.