Screening and Functional Validation of Genomic Variants Associated with Human Congenital Anomalies (R01 Clinical Trial Not Allowed)

Rapid advances in genotyping and next generation sequencing technologies have led to the identification of genetic variants that are associated with a wide variety of congenital defects including human congenital anomalies (HCAs), intellectual developmental disabilities (IDDs) and inborn errors of metabolism (IEMs). Large quantities of genomic data collected from pediatric congenital anomalies cohorts are available to the research community through several databases such as the Database of Genotypes and Phenotypes (dbGaP), the Gabriella Miller Kids First Data Resource Portal, the European Genome-Phenome Archive and Clinical Genome Resource (ClinGen). The purpose of this initiative is to promote the screening, functional validation and characterization of congenital anomaly-associated genetic variants identified through public facing databases and individual efforts using in-silico tools, appropriate animal models, in vitro systems or multi-pronged approaches. This initiative addresses a challenging gap between identifying sequence variations of potential interest and recognizing which of those variations have functional effects on the phenotype of interest.

Other Eligible Applicants include the following: Alaska Native and Native Hawaiian Serving Institutions; Asian American Native American Pacific Islander Serving Institutions (AANAPISISs); Eligible Agencies of the Federal Government; Faith-based or Community-based Organizations; Hispanic-serving Institutions; Historically Black Colleges and Universities (HBCUs); Indian/Native American Tribal Governments (Other than Federally Recognized); Non-domestic (non-U.S.) Entities (Foreign Organizations); Regional Organizations; Tribally Controlled Colleges and Universities (TCCUs) ; U.S. Territory or Possession.

The primary criteria for evaluating grant applications include assessment of: (1) the scientific merit, significance and overall impact of the proposed study and its objectives; (2) the competency of the proposed investigator(s) to successfully pursue the project; (3) the innovation and novelty of the concepts, approaches, or methodologies; (4) the technical adequacy of the experimental design and approach; (5) the adequacy of the available proposed facilities and resources; (6) the necessity of the budget components requested in relation to the proposed project; and (7) the relevance and importance to the posted institute program objectives. Also evaluated, where applicable, but not scored are: (1) protections for human subjects; (2) inclusion of women, minorities, and children; (3) vertebrate animal welfare; and (4) adequate protection of research personnel and/or the environment, biosafety, biocontainment and the security of select agents; (5) resource sharing plans; (6) authentication of key biological and/or chemical resources, (7) budget and period of support. In addition, the following criteria will be used in considering the scientific and technical merit of SBIR/STTR Phase I grant applications: the potential of the proposed research for commercial application. Phase II grant applications will reviewed based upon the following criteria: (1) The degree to which the Phase I objectives were met and feasibility demonstrated; (2) the scientific and technical merit...

This program has no statutory formula. Matching requirements are not applicable to this assistance listing. MOE requirements are not applicable to this assistance listing.

Not Applicable.

The major elements in evaluating proposals include assessments of: (1) The scientific merit and general significance of the proposed study and its objectives; (2) the technical adequacy of the experimental design and approach; (3) the competency of the proposed investigator or group to successfully pursue the project; (4) the adequacy of the available and proposed facilities and resources; (5) the necessity of the budget components requested in relation to the proposed project; and (6) the relevance and importance to announced program objectives. The major elements in evaluating proposals for scientific instruments include assessments of (1) the need for the instruments; (2) technical expertise in the requested technology; (3) advancements of research projects when the novel technology is available; (4) administration of the usage of the instrument and (5) institutional support for the long term maintenance and the usage of the instrument.

This program has no statutory formula. Matching requirements are not applicable to this assistance listing. MOE requirements are not applicable to this assistance listing.

Not Applicable.

The major elements in evaluating proposals include assessments of the significance of the proposed research; approach; innovation; investigators; and environment. The following criteria will be used in considering the scientific and technical merit of SBIR/STTR Phase I grant applications: (1) The soundness and technical merit of the proposed approach; (2) the qualifications of the proposed principal investigator, supporting staff, and consultants; (3) the technological innovation of the proposed research; (4) the potential of the proposed research for commercial application; (5) the appropriateness of the budget requested; (6) the adequacy and suitability of the facilities and research environment; and (7) where applicable, the adequacy of assurances detailing the proposed means for (a) safeguarding human or animal subjects, and/or (b) protecting against or minimizing any adverse effect on the environment. Phase II grant applications will be reviewed based upon the following criteria: (1) The degree to which the Phase I objectives were met and feasibility demonstrated; (2) the scientific and technical merit of the proposed approach for achieving the Phase II objectives; (3) the qualifications of the proposed principal investigator, supporting staff, and consultants; (4) the technological innovation originality, or societal importance of the proposed research; (5) the potential of the proposed research for commercial application; (6) the reasonableness of the budget...

This program has no statutory formula. Matching requirements are not applicable to this assistance listing. MOE requirements are not applicable to this assistance listing.

Fiscal Year2025: The following is a tiny sample of fiscal year 2025 NICHD funded grants within the discretionary award class type. 1) Understanding the role of early life social determinants and sex-specific pubertal pathways in the development of adolescent chronic pain. 2) Improving In Vitro Fertilization Success through Multiplexed Optical Metabolic Imaging. 3) Genetic Studies of Large Palindromes. 4) A Safe, Fast, and Cost-Effective System for Tissue Removal in Laparoscopic Hysterectomy and Other Minimally Invasive Surgery. The following is a tiny sample of fiscal year 2025 NICHD funded grants within the cooperative agreement award class type. 1) Study of Treatment and Reproductive outcomes. 2) Pediatric HIV/AIDS Cohort Study (PHACS): Research on Immune Aging, Sexual and Reproductive Health, and Perinatal Acquisition: Elucidating Relationships in HIV (RISE). 3) Pelvic Floor Disorders Network Data Coordinating Center. 4) NICHD Maternal-Fetal Medicine Units (MFMU) Network: Data Coordinating Center.Fiscal Year2026: The following is a tiny sample of fiscal year 2026 NICHD funded grants within the discretionary award class type. 1) Placental Proteins and Prematurity. 2) In...