CIDR – IDENTIFICATION OF MODIFIERS OF 22Q11.2 DELETION SYNDROME BY WHOLE GENOME SEQUENCING IN BLOOD DNA (MORROW)

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Center for Inherited Disease Research (CIDR) Trans-NIH Collaboration The Center for Inherited Disease Research [CIDR] represents an important collaboration between NICHD and NHGRI. Since 1996, Institutes of the NIH have participated in the CIDR contract with the Johns Hopkins University. This trans-NIH collaboration is supported by 10 ICs, with NHGRI serving as the lead IC. CIDR provides to NIH-supported grantees state-of-the-art genomics and statistical genetics services, including whole genome and whole exome sequencing, genome-wide association studies [GWAS] and methylation analysis. In addition to providing outstanding genomics services, CIDR also consults on study design and statistical analysis to NIH grantees. A prime reason for continuing this collaboration is that, as a result of the genomics data provided by CIDR, important new insights into genetic diseases/conditions can potentially move a field of research forward. In addition, the data produced by CIDR is required to be deposited in dbGaP so that the data will be available for further analysis by the scientific community at large. All investigators requesting access through the NIH-funded CIDR Program must submit an electronic application to NIH. X01 applications are continuously accepted and are evaluated for scientific merit six times per year by the CIDR Access Committee. The CIDR Board of Governors, which is made up of representatives from the supporting ICs, serves as the second level of review and determines which projects are granted access to the CIDR facility. NICHD has supported projects on dizygotic twinning, chromosome nondisjunction, male meiotic recombination, ADHA, pre-term birth, modifiers of Alexander Disease, clubfoot, autism, and brain diseases. There is currently a pending project on “The heritability and genetic architecture of gender dysphoria.” The diversity of topics shows the interest of investigators supported by a wide variety of NICHD’s scientific Branches. The current CIDR contract supports whole genome sequencing in blood DNA for identification of modifiers of 22q11.2 deletion syndrome.