National Urea Cycle Disorders Foundation

Research,Science/Medicine Programs:1)NUCDF Fellowship Award attracts/supports new investigators in the field of urea cycle disorder research & clinical care; goal is to accelerate research & improve access to quality care. 2) Founding partner NIH Rare Diseases Clinical Research Network Urea Cycle Disorders Consortium. Research projects include natural history & neuroimaging studies, clinical trials for new treatments. NUCDF exec director serves as Consortium Co-Principal Investigator in key leadership role directly stimulating & developing research projects/protocols, engaging patient community, communicating research activities & progress to patient community & reducing barriers to patient participation in research. 3) Accelerates/supports international research, increases understanding of disorders/effects on brain function. Facilitates development/enrollment of clinical trials for new treatments/devices & validation of next-generation diagnostic and screening technologies. Strategic development & funding of neuroscience collaborations to accelerate research on effects of UCD on brain function & long-term health, development of treatments/interventions to prevent brain damage & improve cognitive function. 4) IRB-approved International UCD Patient-Reported Registry collects natural history/outcome data to accelerate research & understand QOL issues, identify unmet patient needs/issues for research. 5) CureUCD eclinical Therapeutic Discovery Lab: model project to validate potential treatments & accelerate development of clinical trials.

NUCDF Patient and Family Support Programs 1) Serve as lifelines to families & affected individuals worldwide in need of information peer-to-peer support to families and patients struggling with new diagnosis, facing medical crises, or in need of resources or emotional support. Connects affected families together for support. Actively serves over 1300 families and medical professionals. 2) Maintains moderated private online support community with groups, discussions, educational/informational videos, forums, blogs. 3) NUCDF Family Conference, local "meet-ups" & networking activities connect families for support and provide credible information to improve outcomes. Connects affected patients & families with world-renowed medical experts, latest research/treatment information not available anywhere else. Conference provides opportunities for patients and families to participate in research studies conducted at conference. 4) Online meetings/webcasts/webinars provide information to increase understanding of the disorder, treatment and management, and educate community about research activities.

Advocacy, Education & Awareness Programs 1) Advocacy partnerships, policy & programs to benefit UCD patient community & rare disease community at large. 2) NUCDF websites serve as vital portals & lifelines to provide credible information & educational resources to healthcare professionals, affected families/patients & public, facilitate communication & support mechanisms. Programs facilitate identification, diagnosis/treatment for over 200 new families/yr. 3) Multiple portals facilitate e-communications & support network for over 2000 healthcare professionals & affected families in over 40 countries. 4) Patient & medical professional education programs include webcasts/webinars, Annual Family Conference, international scientific symposia, speakers bureau, Grand Rounds & symposium presentations, educational seminars for medical professionals, CheckAmmonia.com education website for healthcare professionals. 5) Awareness activities include annual events (Rare Disease Day, Cure the Cycle Challenge), educational booths at medical society conferences, targeted media to increase identification of undiagnosed patients, educate/inform public & med professionals about prevalence, early identification, risks, etc. 6) Publications, educational materials, guides, resource library, research & news briefs available in wide variety of formats through website, listserv, online community, exhibits and other rare disease community.