Sentences with phrase «including duchenne»

The findings are a major step towards developing a stem cell replacement therapy for muscle diseases including Duchenne Muscular Dystrophy, which affects approximately 1 in 5,000 boys in the U.S. and is the most common fatal childhood genetic disease.

Muscular dystrophies are an inherited group of disorders, and include Duchenne and Becker, Emery Driefuss, limb - girdle, myotonic, facioscapulohumeral, and distal types.

Not exact matches

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.

These are the muscular dystrophies (among which are Duchenne and Becker); motor neuron diseases (including ALS and SMA); the peripheral nerve disorders (CMT and Friedreich's ataxia); inflammatory myopathies; disorders of the neuromuscular junction; metabolic diseases of muscle as well as other myopathies.

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.

The discovery is being hailed by experts in the field, including Dr. Ronald Worton, who co-discovered the gene for Duchenne muscular dystrophy in 1987 and served as Vice-President of research at The Ottawa Hospital for 11 years.

These diseases are referred to as splicing diseases and include SMA, cystic fibrosis and Duchenne's muscular dystrophy.

Some muscles, including the heart, were corrected by the therapy, and this is considered a major success because heart failure surfaces as the common cause of death among Duchenne sufferers.

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.

The discovery is being hailed by experts in the field, including Dr. Ronald Worton, who co-discovered the gene for Duchenne muscular dystrophy in 1987 and served as Vice-President of Research at The Ottawa Hospital from 1996 to 2007.

Utilising the RDRF, we have deployed national and international patient - driven and clinical registries including: the Myotubular and Centronuclear Myopathy Patient Registry, the Global Angelman Syndrome Registry, the Familial Hypercholesterolaemia Australasia Network Registry, and the Australian and New Zealand Neuromuscular Disorders Registries (Duchenne Muscular Dystrophy, Spinal Muscular Atrophy, and Myotonic Dystrophy Registries).

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.

For all of our Duchenne community members who were not able to participate in Monday's historic Duchenne Patient - Focused Compass Meeting online or in person, please take a few minutes to participate in our survey so that your voice can be included!

This year's conference is packed with events, including an exciting one day meeting called the Duchenne Patient Focused Compass Meeting.

The updated Care Considerations, published in January, include information around pulmonary care and services for both children and adults with Duchenne.

He was born with Duchenne Muscular Dystrophy, a life - limiting hereditary muscle wasting condition, which affects all muscles in his body including the heart, lungs and the digestive system.