Association for Creatine Deficiencies
Association for Creatine Deficiencies
The Association for Creatine Deficiencies (ACD) is a nonprofit organization based in the United States dedicated to raising awareness, providing education, and advocating for individuals affected by cerebral creatine deficiency syndromes (CCDS). Established to support patients and families dealing with these rare genetic disorders, the ACD emphasizes the importance of early diagnosis and effective management.
Mission and Objectives
The organization's mission focuses on several key areas:
-
Education: The ACD aims to provide comprehensive information to patients, families, and the general public about CCDS, including their symptoms, diagnosis, and treatment options.
-
Advocacy: The organization advocates for early detection and intervention strategies, emphasizing the necessity of recognizing symptoms that often lead to misdiagnosis.
-
Research Support: ACD promotes and funds medical research aimed at developing treatments and potential cures for CCDS. This aspect of their mission is vital, as current treatment options are limited and largely depend on creatine supplementation.
Cerebral Creatine Deficiency Syndromes (CCDS)
CCDS are a group of rare inherited disorders caused by deficiencies in creatine synthesis or transport. The three primary types include:
-
Creatine Transporter Deficiency (CTD): An X-linked disorder resulting from mutations in the SLC6A8 gene, leading to severe neurological impairments, including intellectual disability and developmental delays.
-
Arginine:Glycine Amidinotransferase Deficiency (AGAT deficiency): This autosomal recessive disorder results in low creatine levels due to a defect in the GATM gene.
-
Guanidinoacetate Methyltransferase Deficiency (GAMT deficiency): Also inherited in an autosomal recessive manner, this disorder is caused by mutations in the GAMT gene, affecting the body's ability to produce creatine.
These conditions can lead to significant developmental challenges, making the ACD's work critical in providing resources and support for affected families.
Organizational Structure
The leadership of the ACD comprises dedicated individuals with varying expertise, enabling a well-rounded approach to their mission. Key members include:
- Dan Coller: Serving as one of the prominent leaders.
- Erin Coller: Another key figure in the organization's efforts.
- Celeste Graham, Kim Tuminello, Mikelle Law, Jenny Lin, and Randy Allen also hold important positions within the organization.
Conclusion
The Association for Creatine Deficiencies plays a crucial role in the advocacy and support for families affected by CCDS. Through education, research, and concerted efforts to promote early diagnosis, the ACD is committed to improving the lives of those impacted by these rare but serious disorders.
Edit WikiFounded
2012
Web
Sign in to see organisation website
Traffic
4137312
From Social media
News about from their social media (Facebook and X).
Data about organisation
Carlsbad
Organisations from Association for Creatine Deficiencies
The largest publisher of self-help books, events & courses.
3. BOYS AND GIRLS CLUB OF CARLSBADINC
Whatever it takes to build #greatfutures for youth.
4. National Association of Music Merchants Inc
The National Association of Music Merchants is a not-for-profit organization.
5. LA Costa Community Home Fellowship Church
God's work.
Interesting nearby
Interesting organisations close by to residence of Association for Creatine Deficiencies
Juvenile Bipolar Research Foundation, Inc.
Research to determine etiology of juvenile onset bipolar so more effective treatments can be found.
DonnaBellas Angels provides inspirational art for mental health wellness.
AMYOTROPHIC LATERAL SCLEROSIS ASSOCIATION
The ALS Association is the only national non-profit organization fighting ALS on every front.
Similar traffic
Organisations with similar web traffic to Association for Creatine Deficiencies
We provide housing and supportive services to vulnerable populations in Oklahoma.
13578. World of Wonders Science Museum Inc
An educational hands-on science museum located in historic downtown Lodi, California.
13579. Associated Builders and Contractors Inc
We lead the commercial construction industry to prosperity and productivity as Arizona’s premier trade association for contractors.
Join us and make a difference for the future!
Sign Up
Please fill in your information. Everything is free, we might contact you with updates (but cancel any time!)
Sign in with GoogleOr
Good News
"Thrilled to see Brighton Park's playroom not only providing fun for kids but also stepping up to support families affected by immigration challenges—community love in action! 🌟 #Positivity #CommunitySupport"
Brighton Park playroom helping families impacted by immigration enforcement
Yahoo
Like Comment