Single gene disorders (SGDs)
are a group of conditions caused by a change
(mutation) in one particular gene. There are over
6,000 SGDs and although these disorders are rare
individually, when grouped together they account for
about 1 in 300 births.
Our mission:
To enhance the health
and well-being of people who have disabling or
potentially disabling single gene disorders and
their families by promoting the best medical,
functional and psychosocial outcomes.
Our approach is to:
-
Develop expandable surveillance
systems that meet the challenges of SGDs.
-
Improve screening and diagnosis.
-
Improve services to people who have
SGDs and their families.
|