U24HD104588

Clingen Expert Curation Panel for Severe Structural Anomalies and Stillbirth

Congenital anomalies occur in approximately 3% of all pregnancies and are a leading cause of perinatal, infant, and childhood mortality and morbidity. The majority of these anomalies are identified during pregnancy. However, despite the introduction of increasingly more sophisticated prenatal genomic testing such as sequencing, a specific diagnosis is hampered by our inability to accurately interpret genomic data.

A leading barrier to interpretation is the lack of expert consensus regarding gene-disease association, variant pathogenicity, and actionability of findings. This creates challenges for obstetric and genetic providers to offer appropriate care. In response to the Eunice Kennedy Shriver National Institute of Child Health and Human Development's interest in the genomics of birth defects, this application is a proposal to become a participating Clingen expert panel to evaluate the clinical relevance of genes and variants related to fetal congenital anomalies.

Our proposal will develop gene disease validity and variant curation expert panels to evaluate two common and unique severe fetal disorders: non-immune fetal hydrops and unexplained stillbirth. The variant and gene curation panels are composed of experts in clinical genetics, maternal fetal medicine, molecular laboratory testing, computer science, developmental biology, genetic counseling, and biocuration. Members of our expert panel come from diverse national and international institutions and have extensive experience in prenatal phenotyping and genotyping. The panel also has members who have served on other Clingen expert panels and committees, which will facilitate our integration into the Clingen infrastructure.

Our proposal describes the details of our intended use of Clingen policies, procedures, and tools to best determine the clinical relevance of specific genes and variants to clinical care. We are committed to sharing our data and results with others and contributing to the genetic knowledge base in the area of early developmental disease.

The Trustees Of Columbia University In The City Of New York

TO CONDUCT AND SUPPORT LABORATORY RESEARCH, CLINICAL TRIALS, AND STUDIES WITH PEOPLE THAT EXPLORE HEALTH PROCESSES. NICHD RESEARCHERS EXAMINE GROWTH AND DEVELOPMENT, BIOLOGIC AND REPRODUCTIVE FUNCTIONS, BEHAVIOR PATTERNS, AND POPULATION DYNAMICS TO PROTECT AND MAINTAIN THE HEALTH OF ALL PEOPLE. TO EXAMINE THE IMPACT OF DISABILITIES, DISEASES, AND DEFECTS ON THE LIVES OF INDIVIDUALS. WITH THIS INFORMATION, THE NICHD HOPES TO RESTORE, INCREASE, AND MAXIMIZE THE CAPABILITIES OF PEOPLE AFFECTED BY DISEASE AND INJURY. TO SPONSOR TRAINING PROGRAMS FOR SCIENTISTS, DOCTORS, AND RESEARCHERS TO ENSURE THAT NICHD RESEARCH CAN CONTINUE. BY TRAINING THESE PROFESSIONALS IN THE LATEST RESEARCH METHODS AND TECHNOLOGIES, THE NICHD WILL BE ABLE TO CONDUCT ITS RESEARCH AND MAKE HEALTH RESEARCH PROGRESS UNTIL ALL CHILDREN, ADULTS, FAMILIES, AND POPULATIONS ENJOY GOOD HEALTH. THE MISSION OF THE NICHD IS TO ENSURE THAT EVERY PERSON IS BORN HEALTHY AND WANTED, THAT WOMEN SUFFER NO HARMFUL EFFECTS FROM REPRODUCTIVE PROCESSES, AND THAT ALL CHILDREN HAVE THE CHANCE TO ACHIEVE THEIR FULL POTENTIAL FOR HEALTHY AND PRODUCTIVE LIVES, FREE FROM DISEASE OR DISABILITY, AND TO ENSURE THE HEALTH, PRODUCTIVITY, INDEPENDENCE, AND WELL-BEING OF ALL PEOPLE THROUGH OPTIMAL REHABILITATION.

93.865 - Child Health and Human Development Extramural Research

National Institute of Child Health and Human Development (NICHD) [HHS - NIH]

New York United States

State-Wide

Genomic Expert Curation Panels (U24 Clinical Trial Not Allowed) (PAR-20-101)

Amendment Since initial award the End Date has been extended from 08/31/24 to 08/31/25 and the total obligations have increased 11% from $356,073 to $393,994.