Scientists discover cause of common muscular dystrophy

Scientists have discovered the genetic cause of facioscapulohumeral muscular dystrophy (FSHD), the third most common form of muscular dystrophy. The finding may solve a decade-old mystery about the origin of this crippling disease and lead to the first effective treatments for tens of thousands of Americans.

"Speaking as patient, this discovery is very exciting and it gives hope for a cure. The findings are the first major breakthrough for understanding the mechanism causing FSHD," says Daniel Perez, President and CEO of Facioscapulohumeral Muscular Dystrophy Society (FSH Society), which initiated and continues funding of the research. "With this major step, we now have a starting point for developing therapeutic tools."

Perez, who founded the Society in 1991, is a FSHD patient himself who now requires the use of a wheelchair as a result of the disease. Since 1998, the FSH Society has funded more than $800,000 in FSHD projects from its grassroots network of patients and families. The FSH Society is the largest research organization solely dedicated to FSHD research and has produced significant breakthroughs in less than four years.

People with FSHD have progressive and severe loss of skeletal muscle that primarily affects the face, shoulder blades and upper arms making it difficult to lift the arms or even smile. Progressive weakness of other muscles make it difficult to walk. Eye and hearing diseases are often associated with the disorder that affects one in 20,000 Americans. Many FSHD patients are severely disabled and need to use wheelchair for many decades.

In the new study, Rossella Tupler, M.D., Ph.D., of the University of Massachusetts Medical School in Worcester and the Universita' degli Studi di Pavia in Pavia, Italy, and colleagues studied human muscle tissue from unaffected individuals and from people with FSHD. The researchers found that FSHD occurs when a missing piece of DNA allows nearby genes to become overac

Contact: Brian Ruberry
Allhealth Public Relations

Page: 1 2

Related biology news :

1. Scientists to prototype cyberinfrastructure for research and education access to ocean observatories
2. Scientists sequence genome of kind of organism central to biospheres carbon cycle
3. Scientists find nanowires capable of detecting individual viruses
4. Scientists discover potential new way to control drug-resistant bacteria
5. Scientists explore genome of methane-breathing microbe
6. Scientists decipher genetic code of biothreat pathogen
7. Stuck on you: Scientists lay bare secrets of bacterial attachment proteins
8. Scientists discover proteins involved in spread of HIV-1 infection
9. Scientists fear new Ebola outbreak may explain sudden gorilla disappearance
10. Scientists reinvent DNA as template to produce organic molecules
11. Scientists visualise cellular handmaiden that restores shape to proteins

Post Your Comments:

(Date:12/2/2019)... (PRWEB) , ... December 01, 2019 , ... ... latest and greatest tools, technologies, and techniques to hit the life-science landscape. For ... of innovative products speeding work in laboratories and facilitating biological discovery. This year’s ...
(Date:11/22/2019)... ... November 21, 2019 , ... ... Park Comprehensive Cancer Center have announced a major step forward with that therapy, ... have announced that the company, spun off from Roswell Park in 2012, has ...
(Date:11/19/2019)... (PRWEB) , ... November 19, 2019 , ... Hosted at ... MJBizDaily , MJBizCon 2019 is the largest gathering of MJBiz business professionals ... 35,000, and programming to benefit every sector, there is no show quite like it. ...
Breaking Biology News(10 mins):
(Date:12/23/2019)... (PRWEB) , ... December 23, 2019 , ... ... leak detection systems for the Pharmaceutical, Biotechnology and Medical Device Industries, is excited ... at the Parenteral Drug Association (PDA) Container Closure Integrity Testing Basic Training ...
(Date:12/18/2019)... ... December 18, 2019 , ... Tune in to CNBC on Saturday, December 28th ... local listings for more information on this program. , With a look at ... simplify complex system to increase the efficiency, safety and effectiveness of equipment, systems, and ...
(Date:12/4/2019)... (PRWEB) , ... December 03, 2019 , ... A new ... Syneos Health, Teleflex, and CONMED as the overall best medical sales companies to work ... Medical Sales survey polled over 1,200 professionals from the MedReps community to identify ...
(Date:12/4/2019)... N.C. (PRWEB) , ... December 03, 2019 , ... A ... studies have shown can reduce and even reverse fibrosis (scar tissue) buildup – also ... at Stanford University School of Medicine, was conducted on mice. , The tumor-destroying ...
Breaking Biology Technology:
Cached News: