We will conduct a prospective study genetic and observation study of patients and their family that has a Gi birth defect that requires a surgical repair. The investigator will preform a preliminary chart review and obtain informed consents from the parents and assent if applicable. Both biological parents of the participant will be invited to enroll. unaffected siblings and other unaffected relatives may also be invited to enroll. For patients and family members 10cc of blood collection or patients who are not able to provide a blood sample we will collect a buccal or saliva sample. For patients who undergo a surgical repair we will collect a small skin biopsy and tissue sample from the site of the incision.
All patients with the diagnosis of a GI birth defect transferred to CMCD for standard of care for medical and surgical management. All patients with the diagnosis of a birth defect transferred to CMCD for standard of care for medical and surgical management will be included in this study regardless of sex, age, ethnicity, socioeconomic status or confounding medical problems. The parents and siblings will be asked to participate, at the time of the original discussions and counseling regarding the proband's diagnosis.
The goal of this study is to use genomic methods including whole exome/genome sequencing to identify underlying genetic cause of Gi birth defects and correlate the findings with the natural history of the birth defect. The identification of such genes, and examination of their structure and function, and identification of genotype-phenotype correlations will enable a delineation of molecular pathogenesis and, ultimately, prevention, improved understanding and ultimately better treatment of these diseases. Two to three percent of all children and born with a Gi birth defect and many of the birth defects require surgical repair in the neonatal period, long hospital stay with significant mortality and morbidity. This study is designed to establish a small, well-defined genetic resource consisting of nuclear families with at least one individual born with a birth defect that requires surgical repair who can directly screened for allelic variation in candidate genes and genomic alterations and other first degree relatives of the proband to determine the segregation of the genetics alterations with Gi birth defects within the family. The identification of such genes, and examination of their structure and function, and identification of genotype-phenotype correlations will enable a delineation of molecular pathogenesis, and ultimately, prevention, improved understanding and ultimately better treatment of their diseases.