Find-A-Study

Chromosome 18 Clinical Research Center

Lay Description

Our vision, that of the researchers at the University of Texas Health Science Center at San Antonio, is that every person with a chromosome 18 abnormality will have an autonomous and healthy life. Our mission is to provide families affected by chromosome 18 abnormalities with comprehensive medical and educational information. Our goals are to provide definitive medical and education resources for the families of individuals with chromosome 18 abnormalities; perform and facilitate groundbreaking clinical and basic research relating to the syndromes of chromosome 18; and to provide treatments to help these individuals overcome the effects of their chromosome abnormality.

Eligibility

Eligible Ages
Eligible Genders: All
Accepts Healthy Volunteers: Yes

Inclusion Criteria

Must have a confirmed diagnosis of Chromosome 18 or be the parent/guardian of a child with Chromosome 18
Subject must be at least one year of age to participate in the clinical examination aspect of the study (due to issues of venous access and blood volume required to complete studies)
General health status: good

Exclusion Criteria

Pregnant women
Dead fetuses
Prisoners
Non-viable neonates or neonates of uncertain viability

Study Design

Arm Groups

Study Contact

Catherine Mccarthy
210-567-5321
mccarthyc@uthscsa.edu

Principal Investigator
Jannine Cody