WHAT ARE THE NEXT STEPS?
The NEMO gene is being analyzed in
numerous IP patients to find all the mutations and to
properly analyze them.
The portion of the gene that has been analyzed so far has
revealed mutations that account for ~80% percent of cases.
Once mutations are identified, their effects on level and
stability of the abnormal protein made in the cell upon the
instructions of the mutated gene need to be determined.
Laboratory tests will be established to explain the
function of mutant proteins. Animal models already exist,
and the mice can help in the study of the gene's lethality,
and the variation in severity of the disease.
The mouse model of IP will be extremely helpful in tracking
the effect of the mutation at various levels and stages of
development.
Animal models will also prove essential in testing various
possible therapies. They also help to investigate whether
NEMO has additional functions beyond those that are
currently known.
It will be valuable to determine what other genes are
misregulated (over- or under-expressed) by the loss of
normal NEMO function in IP.
Study the consequences of alterations on the expression and
function of these secondary genes. This may lead to
therapeutic approaches.
The IPIF will continue
to map a healthy strategic plan for the future of our
Research Fund. The foundation expects
to:
-support ongoing
laboratories,
-recruit new researchers,
-hold brainstorming meetings with the best experts and
-promote and secure NIH funding.
We need you to continue your part to support this important segment of research.