Genetic Testing of neonates undergoing surgery for single ventricle cardiac defects (SVCD) and other congenital cardiac defects. DNA testing with an aim to identifying genetic factors that aid survival and recovery in SCD patients.

Genetic contribution to patient outcomes: Over the past two decades, there has been dramatic improvement in the survival and functional outcome of patients with all forms of congenital cardiac defects. Yet, there exists significant variability in outcomes that becomes more pronounced as the level of surgical intervention increases and the exposure to adverse hemodynamic conditions becomes more prolonged and more profound. This is particularly noticeable in the SCD patient group where there are continued high levels of mortality and levels of disability that can be quite severe. While these poor outcomes can on occasion be attributed to technical difficulties, complex cardiac anatomy or patient co-morbidities, more commonly they occur in patients that do not superficially appear to be any different than those that will ultimately have excellent outcomes. What is becoming increasingly apparent is that every patient differs in their ability to tolerate the challenges presented by the peri-operative environment. Therefore, significant improvements in outcomes may depend on identification of the genetic factors that place some patients at greater risk and designing treatment protocols to minimize those risks.

Postpartum depression (PPD) is a debilitating mood disorder that occurs in 15-20% of childbearing women. Although several psychosocial risk factors for PPD have been identified, a substantial proportion of the risk for the disorder remains unexplained and biological contributors are unclear. The identification of biological markers in PPD will substantially improve our ability to detect and intervene prior to the onset of the disease, uncover novel disease pathways and ultimately, produce better treatments for patients suffering from PPD. The purpose of the study is to identify biological markers of PPD.

MUSC Center for Drug and Alcohol Programs is conducting an alcohol research study investigating the brain and genetic mechanisms that are related to alcoholism. Individuals (ages 21-60) who complete the study will be compensated for their participation. This study seeks people who are light alcohol drinkers (less than 7 drinks per week for women, or 14 per week for men) so that they may be compared to people who are heavier drinkers or dependent upon alcohol. The study involves a psychiatric interview and self-report questionnaires, a blood draw for genetic testing, and a 1-hour magnetic resonance imaging (MRI) scan. The same procedures are currently being conducted among heavy drinkers and alcohol-dependent people, and data from participants in this study will ultimately be compared to data from these people. For more information, call Mark at (843) 792-1222.

A follow-up study (Fontan 2) at an average of 6 years after Fontan 1 has recently been completed. A limited re-evaluation of the original Fontan 1 cohort utilized the following outcomes: vital status, functional health status, interim medical events, access to health care and self-reported availability and willingness to participate in future studies. We are continuing to follow this unique group of individuals in order to assess how they are coping with this chronic disease process.

The majority of drugs administered to children are used off label and PK studies to define appropriate dosing are lacking across pediatric age groups. Challenges associated with clinical trials in children limit the ability to conduct PK and dosing trials in this population. Studies capitalizing on standard of care procedures have proven successful in characterizing the PK of drugs used in children. The purpose of this study is to characterize the PK of understudied drugs administered to children per standard of care as prescribed by their treating caregiver.
This study will serve as a tool to better understand drug exposure in children receiving drugs per standard of care. The data collected through this initiative will provide valuable PK and dosing information drugs in different pediatric age groups as well as special pediatric populations (i.e. obese).

This study will prospectively enroll approximately 660 children, between 18 months and 60 months of age at a time of consent, who are referred to up to 20 pediatric developmental evaluation centers. Enrolled children will have blood drawn for RNA gene expressions analysis and will undergo a clinical evaluation to determine the presence or absence of a diagnosis of ASD. The study will be analyzed in two phases. In the Development Phase, analyses will be performed in sequential cohorts of 100 subjects until it is determined that the classification algorithm is considered final. We anticipate that it will be possible to complete the Development Phase with 300 subjects. The Validation Phase will include 300 subjects completing the study after the classification algorithm has been finalized.

This study seeks to identify the germs present in the lower respiratory tract of individuals with alpha-1 antitrypsin deficiency (Alpha-1). Alpha-1 is a genetic disease that predisposes individuals to lung and liver disease. The lung disease is characterized by emphysema (holes in the lungs) and bronchiectasis (airway infections and dilated airways). We will use a lighted scope inserted into the lungs to collect bronchoalveolar lavage (BAL) during a single outpatient bronchoscopy. Collected BAL samples will be analyzed for viral and bacterial contents by culture independent methods using genetics of the microbes. BAL cellular RNA expression and findings on a research CT scan of the lungs will determine if the microbiome impacts lung disease in Alpha-1 patients, and will aid in the development of strategies to prevent lung infection.

This is not a treatment study. The Hollings Cancer Center Tissue Biorepository, (HCCTB), provides investigators with a centralized infrastructure to promote biomedical research involving the use and study of human biospecimens. The protocol outlines the fundamental aspects of how the collection, storage, and data management of specimens and related health information will be managed for the HCCTB. HCCTB will serve as the honest broker to other researchers that present with an separate valid IRB approval to utilize the specimens from the HCCTB.

The Sleep Research Data Repository (SRDR) aimed to systematically collect, analyze and store for future research sleep and sleep disorders related biological and psychological information. It will include sleep physiological measurements and the results of interviews, questionnaires, and laboratory tests. The SRDR will contain sleep related information obtained from healthy subjects and patients with psychiatric, substance abuse, neurological disorders, or any medical conditions associated with sleep disturbances. SRDR data will be made available to current and future IRB-approved investigators associated with this protocol.

Systemic lupus erythematosus (lupus; SLE) and Systemic Sclerosis (scleroderma; SSc) are relatively rare rheumatic diseases that disproportionately impact the African American community, and particularly African American women. The causes of lupus and scleroderma are unknown, but thought to include both genetic and environmental factors. We are enrolling lupus and scleroderma patients, and healthy control subjects. This is not a drug study. The purpose of this study is to better understand the factors that predispose people to develop lupus and scleroderma. Information about medical, social and family history, medications, physical exam findings, and laboratory tests will be collected for analysis. This study will involve approximately 910 volunteers.