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In Depth Tutorials and Information
complicated mission and the many audiences it must
reach out to.
The OI Foundation is many things to many people:
it is a voluntary health organization, a membership
organization, a source of research funding and a patient
advocacy organization. It provides social and emotional
support plus evidence-based treatment information to
parents of young children who have OI and to the adult
who has OI. It provides treatment information to health
care providers who are unfamiliar with this rare disor-
der. It sponsors family focused meetings and scientific
conferences. It works to disseminate research findings
and encourage new studies. Through its research grant
and fellowship programs it encourages new stud-
ies in basic science and clinical care. These grants pro-
vide funds for established researchers as well as young
research scientists (fellows) just beginning to investigate
OI relevant questions. On many levels, the work of the
OI Foundation is enriched by its network of volunteer,
expert medical consultants.
In addition to research the Foundation is commit-
ted to providing accurate, up-to-date and medically
verified information about OI; it also distributes books,
pamphlets, DVDs, fact sheets and other resources to the
OI community. The Foundation's website,
www.oif.org
,
provides valuable information in “real time” and pro-
vides information on social networking sites.
The Foundation's key education event is the biennial
National Conference, which provides the OI community
with medical, research and coping information. It is also
an excellent way to develop a network for personal sup-
port to meet new friends and reconnect with old ones.
Increasing awareness about OI is another important
activity. Foundation volunteers across the country hold
support group meetings, fundraisers and other events
to raise awareness about the important work being
done on behalf of people with OI. Members also par-
ticipate in the Foundation's national advocacy program
to make lawmakers aware of the importance of funding
research into rare disorders, including OI.
body systems particularly those that include collagen-
rich tissues. Taken together, these issues make under-
standing and treating OI a significant challenge.
The success of studies of rare disorders like OI
depends on solving a fundamental problem - getting
enough people to participate in the study so the data
are meaningful. It is estimated that approximately
40,000 Americans of all ages have OI. They live in every
region of the United States with no single area showing
a preponderance of people with an OI diagnosis. Many
people who have OI have never met another person
with their diagnosis or only those in their own family.
Many are the only OI patient seen by their primary care
physician. Historically, this reality of a widely dispersed
patient population led to studies for OI and other rare
disorders that had very small samples. Consequently,
the resulting data often could not provide clear answers
to the research questions or specific guidelines for treat-
ment. Today, one way to overcome this obstacle is to
design studies involving multiple sites. With the proper
preparation data can be collected in an identical man-
ner in different cities, states and even countries. By har-
nessing the power of the Internet and the thousands of
contacts in the OI Foundation database, it is possible to
make people all over the country aware of opportuni-
ties to participate in OI research.
Conducting a sound study is not enough. In all med-
ical research it is important to acknowledge that mov-
ing a new discovery from the laboratory to the patient
is the ultimate criteria for success. Important findings
need to be communicated to the medical community
before the new information can change standard prac-
tices. The OI community also must be kept informed
so that parents and adults who have OI can make deci-
sions based on the best available information. This pro-
cess goes much quicker and much smoother when the
patient community feels connected to research activities
and the information reaches both the medical and the
patient community in a timely manner.
THE ROLE OF THE OI FOUNDATION IN
RESEARCH
Never doubt that a small group of thoughtful,
committed citizens can change the world, it is the only thing
that ever has.
Margaret Mead
What is the role of the OI Foundation in medical
research? For over 40 years, the OI Foundation has
raised money for research grants, worked to make the
OI community aware of new studies, convened scien-
tific meetings, and through its publication and web-
site provided information in accessible language about
research and treatment discoveries. There are three key
elements to the foundation's role: collaboration, advo-
cacy and communication.
A collaboration is when groups of people work
together to achieve a specific goal. It is a serious, shared
OI
RESEARCH IS COMPLICAT
ED
OI is not only a rare disorder, but an extremely com-
plex one. Multiple types, extreme range of severity,
changes across the lifespan, plus dominant and reces-
sive inheritance mechanisms all contribute to the com-
plexity. The underlying causes for OI - mutations in
genes associated with type I collagen and possibly other
proteins - lead to an array of symptoms in multiple
