“Draft:Fun Feet 4 FOP”的意思、由来-开放百科全书

Fun Feet 4 FOP (or #FunFeet4FOP) is an international social media campaign that aims to raise awareness of the rare genetic condition Fibrodysplasia Ossificans Progressiva (FOP).^[1] Every year on April 23rd, people around the world post fun photos of their feet to show their support and to raise awareness of FOP.{{Infobox organization

History

International FOP Awareness Day

International FOP Awareness Day is celebrated every year on 23rd April. This date is significant within the FOP community, as it marks the discovery date of ACVR1, the gene responsible for FOP.^[2] University of Oxford scientists were instrumental in leading the race to find the rogue gene responsible for FOP. Genetic linkage of rare families with inherited cases of FOP was performed by Professor Matthew Brown, a geneticist in Oxford who was collaborating with James Triffitt as a member of the FOP Research Team.^[3] This allowed the Oxford team to map the precise location of the FOP gene on the human chromosomes. The rogue gene, a BMP receptor termed ACVR1, was mapped to chromosome 2 and more precisely to a small region between bands 23-24. To explain: it is like looking for a single house in the UK. If you compare the chromosomes to a street map, this is equivalent to identifying the city and then the street. The next challenge was to ‘knock on each door’ to find the right house. This search was divided among different international research teams. The ‘correct house’ was one analysed by Dr Frederick Kaplan’s team at the University of Pennsylvania.^[4] Overall, it was a massive international effort, as the DNA had to be collected worldwide. The linkage mapping was particularly challenging because there were so few families with FOP (worldwide prevalence is approximately 1 in 2 million^[5]) and low numbers of affected individuals with which to build good statistics. This research breakthrough was pivotal in improving diagnosis for FOP patients and progressing the search for a cure. Genetic testing has been made available to improve patient diagnosis, the amount of interest from researchers worldwide has increased, and in 2017 the first two worldwide clinical trials for FOP began recruiting participants.^[6]^[7]

The significance of feet

The aim of the #FunFeet4FOP campaign is to raise of awareness of FOP and to inform the general public that one of the important early physical indications of FOP is malformed big toes (short, bent, and sometimes curved inward) at birth. Malformed big toes, together with tumour-like swellings, means with almost 100% certainty that the diagnosis is FOP.^[8] This classic sign is often not recognised by medical professionals, due to the rarity of FOP and lack of awareness of the condition. This can lead to misdiagnosis (often of cancer), which in turn can result in traumatic, unnecessary treatments, biopsies or further investigations, all of which aggravate the symptoms of FOP and accelerate the progression of the condition. One individual living with FOP, Ashley Kurpiel, had her arm amputated due to misdiagnosis.^[9]

International involvement

In 2019, FOP Friends collaborated with the International FOP Association (IFOPA) to launch their #FunFeet4FOP campaign. These efforts have recruited worldwide FOP organisations, from the following countries: Argentina, Australia, Brazil, Canada, France, Germany, Italy, Netherlands, Poland, Russia, South Africa, Spain, Sweden, and Switzerland.

See also

External links

References

1. ^{{Cite web|url=https://www.cosbookkeeping.co.uk/becos-bookkeeping-matters-winter-2018-newsletter/|title=BeCOS Bookkeeping Matters - Winter 2018 Newsletter|date=2018-12-14|website=COS Bookkeeping|language=en-GB|access-date=2018-12-17}}
2. ^{{Cite web|url=https://www.sciencedaily.com/releases/2006/04/060423142533.htm|title=Penn Researchers Discover Gene That Creates Second Skeleton|website=ScienceDaily|language=en|access-date=2019-03-19}}
3. ^{{Cite web|url=https://www.ndorms.ox.ac.uk/team/james-triffitt|title=James Triffitt — Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences|website=www.ndorms.ox.ac.uk|access-date=2019-03-19}}
4. ^{{Cite web|url=https://www.nationalgeographic.com/science/2019/02/what-happens-when-tissue-turns-to-bone-carol-orzel-mutter-museum/|title=Here's what happens when your body tissues turn to bone|date=2019-03-01|website=Science & Innovation|access-date=2019-03-19}}
5. ^{{Cite journal|last=Pignolo|first=Robert J.|last2=Shore|first2=Eileen M.|last3=Kaplan|first3=Frederick S.|date=2011-12-01|title=Fibrodysplasia Ossificans Progressiva: Clinical and Genetic Aspects|url=https://doi.org/10.1186/1750-1172-6-80|journal=Orphanet Journal of Rare Diseases|volume=6|issue=1|pages=80|doi=10.1186/1750-1172-6-80|issn=1750-1172|pmc=3253727|pmid=22133093}}
6. ^{{Cite web|url=https://clinicaltrials.gov/ct2/show/NCT03312634|title=An Efficacy and Safety Study of Palovarotene for the Treatment of FOP - Full Text View - ClinicalTrials.gov|website=clinicaltrials.gov|language=en|access-date=2018-12-17}}
7. ^{{Cite web|url=https://www.clinicaltrials.gov/ct2/show/NCT03188666?term=regn2477|title=A Study to Examine the Safety, Tolerability and Effects on Abnormal Bone Formation of REGN2477 in Patients With Fibrodysplasia Ossificans Progressiva (LUMINA-1) - Full Text View - ClinicalTrials.gov|last=|first=|date=|website=clinicaltrials.gov|archive-url=|archive-date=|dead-url=|access-date=2018-12-17}}
8. ^{{Cite web|url=https://www.ifopa.org/symptoms|title=FOP Symptoms|website=IFOPA - International Fibrodysplasia Ossificans Progressiva Association|access-date=2019-03-19}}
9. ^{{Cite web|url=https://fayettewoman.com/ashley-kurpiel-is-full-of-promise.html|title=Ashley Kurpiel is full of promise|date=2018-03-07|website=Fayette Woman|language=en-US|access-date=2019-03-19}}