Navigation Links
Rare Bone Disease Traced To Faulty FOP Gene

The mystery surrounding a rare bone disease called fibrodysplasia ossificans progressiva (FOP) has been resolved following the identification of a mutant gene// linked to the disease. It is this gene that triggers the formation of a second skeleton, making movement impossible. Nearly 2500 individuals are believed to be afflicted with the disease, worldwide.

As the disease progresses, the muscles, ligaments, tendons, and plates of bones are imprisoned in the second skeleton, for the entire life. The disease that occurs in early childhood has no proper available treatment.

The identification of this mutant FOP gene could eventually pave for development of novel treatment techniques to treat the disease. Additionally, it might provide important clues about effective treatment of head injuries, spinal trauma and sports injuries.

The researchers at Penn's Center for Research in FOP and Related Disorders were involved in 15 years of hard work to analyze the genetic constitution of the families associated with the disease. Mutation in a single gene called ACVR1 was pinpointed to be the cause of FOP. 'We've reached the summit. The genetic twist that leads to FOP, is relevant to every condition that affects the formation of bone and every condition that affects the formation of the skeleton,' said Dr. Frederick Kaplan, in a telephonic interview, commenting about the discovery.

The results of this study, published in the online edition of the Nature journal, could lead to the development of drugs that would inhibit or bypass the genetic switch that triggers extra bone growth. Perhaps, some day, it might even be possible to prevent formation of the unnecessary bone that occasionally forms after hip-replacement surgery. It could also lead to an improved understanding of other similar bone related diseases.

'In the next five years, this might open up the possibility of developing drugs that would be effective in stoppin g bone formation. The first thing that comes to mind is osteoporosis, which is the flip side of the coin when it comes to bone formation. When one learns about one side - extra bone growth - it helps you understand what goes the other way,' said Dr. Victor A. McKusick, a genetics pioneer and professor of medical genetics at Johns Hopkins University School of Medicine in Baltimore.

'If they develop a pill we can take every day, I can move and do more things, and it might be easier for me to become a vet, like I've always wanted to,' said Stephanie Snow, a FOP sufferer, who aspires becoming a veterinarian.

'The gene discovery is an extraordinary gift to the FOP community and a monumental milestone on our road to a cure,' said Jeannie Peeper, a 47-year-old FOP patient, member of International FOP Association, who is set to defy all odds despite her total immobility.

This novel breakthrough has indeed offered endless hope to numerous victims, afflicted with FOP.
'"/>




Related medicine news :

1. Transdermal HRT not cardioprotective in postmenopausal women with Coronary Artery Disease
2. Vitamins-The answer to Heart Disease?
3. Link between Constipation and Parkinsons Disease
4. Levels Of Blood Proteins May Help Heart Disease Care
5. New Drug PP188 Helps Sickle Cell Disease
6. Gene Treatment for Heart Disease
7. Legume Consumption Can Cut Heart Disease Risk
8. Link Between Infection And Heart Disease
9. Celiac Disease in Type 1 Diabetes
10. Shunt for Alzheimers Disease
11. High iron levels may cause Cardiovascular Disease in women
Post Your Comments:
*Name:
*Comment:
*Email:


(Date:6/25/2016)... Aliso Viejo, California (PRWEB) , ... June 25, 2016 , ... ... preset to fit their specific project," said Christina Austin - CEO of Pixel Film ... all fully customizable and all within Final Cut Pro X . Simply select ...
(Date:6/25/2016)... ... ... Conventional wisdom preaches the benefits of moderation, whether it’s a matter of ... too high can result in disappointment, perhaps even self-loathing. However, those who set the ... Research from PsychTests.com reveals that behind the tendency to set low expectations ...
(Date:6/24/2016)... ... June 24, 2016 , ... The Pulmonary Hypertension Association ... it will receive two significant new grants to support its work to advance ... 25th anniversary by recognizing patients, medical professionals and scientists for their work in ...
(Date:6/24/2016)... ... ... People across the U.S. are sharpening their pencils and honing their writing skills ... patients and their families pay tribute to a genetic counselor by nominating him or ... Counselors (NSGC) Annual Education Conference (AEC) this September. , In April, Genome magazine ...
(Date:6/24/2016)... ... June 24, 2016 , ... National recruitment firm Slone ... executive with extensive sequencing and genomics experience, as Vice President of North American Capital ... will be responsible for leading the sales team in the commercialization of the HTG ...
Breaking Medicine News(10 mins):
(Date:6/24/2016)... Belgium , June 24, 2016 /PRNewswire/ ... announced the appointment of Dr. Edward Futcher ... a Non-Executive Director, effective June 23, 2016.Dr. Futcher ... and Nominations and Governance Committees.  As a non-executive ... provide independent expertise and strategic counsel to VolitionRx ...
(Date:6/23/2016)... 23, 2016 Research and Markets has ... - Forecast to 2022" report to their offering. ... for the patients with kidney failure, it replaces the function ... the patient,s blood and thus the treatment helps to keep ... in balance. Increasing number of ESRD patients ...
(Date:6/23/2016)... Ill. , June 23, 2016  In a startling report ... are failing their residents by lacking a comprehensive, proven plan to ... a definitive ranking of how states are tackling the worst ... to only four states – Kentucky , ... Vermont . Of the 28 failing states, three ...
Breaking Medicine Technology: