Birth Defects Research Activities and Advances

Through its intramural and extramural organizational units, NICHD conducts and supports a variety of research on birth defects.

Since NICHD was founded, understanding the causes of birth defects, as well as their detection, treatments, and prevention, has been a primary focus.

Research on birth defects often begins by focusing on the specific effects or health problems resulting from that defect. Once scientists know the outcomes of a certain defect, they can backtrack, following the problem back to early stages of development to attempt to isolate when and how it might have happened.

Through this general scheme, NICHD research has led to significant advances in defining certain birth defects, understanding their characteristics and their common pathways and patterns, and identifying possible points during growth and development when the problems might occur. These advances have led to discoveries related to detection, to prevention, and to treatment of some birth defects.

Several organizational units within NICHD support and conduct research on various aspects of birth defects, including etiology, mechanisms, epidemiology, prevention, and treatment. A selection of these units and some of their activities are described below.

Basic and clinical research on the causes and prevention of congenital defects is a major focus of research funded by the Developmental Biology and Structural Variations Branch (DBSVB). Among the DBSVB's high-priority research areas is basic research on elucidating the biochemical, molecular, biologic, genetic, and cellular mechanisms of both normal and abnormal early development. Specific birth defects of interest include disorders of limb, skeleton, and organ development; congenital immune disorders; and nervous system defects, such as neural tube defects (NTDs).

The DBSVB also coordinates the Birth Defects Initiative, which promotes collaboration among NIH-funded basic and clinical investigators who are interested in structural birth defects research, and the Trans-NIH Structural Birth Defects Working Group (SBDWG), which brings together extramural program officials from NIH components with relevant missions to facilitate advances in understanding the etiology, mechanisms, epidemiology, prevention, and treatment of structural birth defects. Branch staff also lead NICHD's activities with the Gabriella Miller Kids First Pediatric Research Program, which focuses on developing tools and resources to better understand structural birth defects and certain childhood cancers.

The Intellectual and Developmental Disabilities Branch (IDDB) supports research and research training aimed at preventing, ameliorating, and treating intellectual and developmental disabilities (IDDs) that are present at birth. The Branch supports biomedical, biobehavioral, behavioral, and translational research in etiology, pathophysiology, screening, prevention, treatment, and epidemiology. Interests include congenital IDDs such as Down syndrome and Fragile X syndrome, as well as muscular dystrophy.

The Pregnancy and Perinatology Branch (PPB) supports studies of the physiologic, metabolic, and pharmacologic events related to abnormal development of the fetus. Interests relevant to birth defects include the developmental effects of environmental exposure to various agents and chemicals, the occurrence and prevention of structural defects in the newborn, and the effects of maternal health on newborn development.

The Obstetric and Pediatric Pharmacology and Therapeutics Branch (OPPTB) promotes and coordinates research to improve the safety and efficacy of pharmaceuticals used by women during pregnancy. Because nearly two-thirds of all pregnant women take supplements or medications during pregnancy and labor, research supported by the OPPTB is important in order to determine whether certain medications cause birth defects or have other harmful effects on a fetus.

The Child Development and Behavior Branch (CDBB) supports research relevant to the psychological, psychobiological, language, behavioral, and educational development of children. Its interests include studies that focus on developmental pathways leading to normal and atypical brain development and behaviors and their underlying developmental mechanisms at the molecular, genetic, cellular, and network levels. By studying the mechanisms associated with normal and atypical development, the CDBB's research can help to pinpoint specific faulty processes affiliated with the problems in development or behavior that are associated with some birth defects.

The National Center for Medical Rehabilitation Research aims to enhance the health, productivity, independence, and quality of life of people with disabilities due to birth defects and other causes. Interests include congenital anomalies, cerebral palsy, and other birth defects.

Several organizational units within the Division of Intramural Research (DIR) conduct research on various aspects of birth defects. Inborn errors of cholesterol synthesis are the focus of the Section on Molecular Dysmorphology, particularly Smith-Lemli-Opitz syndrome and Niemann-Pick disease, type C. Researchers in this section have investigated drug therapies, molecular mechanisms of disease, and biochemical markers associated with these disorders. The DIR's Section on Gamete Development is interested in the coordination between meiotic cell cycle events and the developmental events of gametogenesis, which could help shed light on chromosomal missegregation during meiosis, the leading cause of miscarriage and birth defects in humans.

Within the Division of Intramural Population Health Research (DIPHR), the Epidemiology Branch's multicenter, multidisciplinary Birth Defects Research Group investigates the etiology of birth defects, particularly NTDs. Other birth defects research conducted by the branch concerns defects related to alcohol consumption during pregnancy and other causes. In addition, DIPHR's Biostatistics and Bioinformatics Branch has developed novel methods for analyzing genetic data related to the inheritance of birth defects.

NICHD supports many large research studies and networks with the aim of learning more about birth defects, related disabilities, and health outcomes. Some of these projects are listed below.

NICHD supports many large research studies and networks with the aim of learning more about birth defects, related disabilities, and health outcomes. Some of these projects are listed below.

  • The DBSVB leads the Trans-NIH Structural Birth Defects Working Group (SBDWG), which includes extramural program officials from NIH components whose missions include research into structural birth defects, with the ultimate goal of facilitating advances in our understanding of the etiology, mechanisms, epidemiology, prevention, and treatment of structural birth defects.
  • DBSVB staff also lead NICHD's activities related to the Gabriella Miller Kids First Pediatric Research Program. The Program, led by NICHD in collaboration with the National Cancer Institute and other NIH Institutes, is building a large data bank to enable researchers to better study children with structural birth defects, childhood cancers, or both.
  • The Birth Defects Research Group is a multicenter, multidisciplinary group led by NICHD's DIPHR to investigate the etiology of birth defects, particularly NTDs.
  • The Eunice Kennedy Shriver Intellectual and Developmental Disabilities Research Centers, supported by the IDDB, aim to advance the scientific understanding of a variety of conditions and topics related to birth defects, such as Down syndrome and cerebral palsy.
  • NICHD's IDDB supports three Fragile X Syndrome Research Centers. These centers are geared toward stimulating multidisciplinary, multi-institutional research on Fragile X syndrome and related disorders and translating basic research findings into clinical practice.
  • The Maternal-Fetal Surgery Network, supported by the PPB, was created in 2001 in response to the rising number of prenatal surgeries for nonlethal conditions, such as myelomeningocele, despite a lack of evidence that the benefits of in utero surgery outweighed the increased risks to the fetus and the mother. The Network's recent study, Management of Myelomeningocele Study (MOMS), found that prenatal surgery for this condition is effective at reducing disability, complications, and death from this birth defect. The Network is now conducting a follow-up study, MOMS 2 , to evaluate outcomes of children who received surgery while in the womb at ages 5 to 8 years, as well as the impact of prenatal surgery on the reproductive health of the mother and on family well-being.
  • NICHD supports the Newborn Screening Translational Research Network , which is developing a system for clinics and other screening providers to collect long-term follow-up and outcome data for use in research on critical congenital heart defects and other disorders.
  • The Maternal and Pediatric Precision in Therapeutics (MPRINT) Hub is a program supported by the OPPTB to test therapeutic drugs during pregnancy. The program allows researchers to conduct safe, technically sophisticated, and complex studies that will help clinicians prevent birth defects and protect women's health.
  • The IDDB supports two of the NIH-funded Paul D. Wellstone Muscular Dystrophy Specialized Research Centers (MDSRCs). The goal of the centers is to foster the translation of new scientific findings and technological developments into novel treatments for those with muscular dystrophy.
  • The IDDB also supports six consortia within the Rare Disease Clinical Research Network. These consortia aim to bring multidisciplinary research teams to bear against rare diseases that otherwise might not receive research attention. Working to understand, track, diagnose, and treat rare diseases can reveal factors and pathways relevant to more common diseases.
  • NICHD researchers are also active members of various research groups, including NIH Fragile X Research Coordinating Group, the Trans-NIH Structural Birth Defects Working Group, the Gabriella Miller Kids First Pediatric Research Program, and the NIH Working Group on Down Syndrome/Down Syndrome Consortium.

The Institute also supports the following scientific resources for studies of birth defects:

  • The Jackson Laboratory's Neural Tube Defects Resource maintains and distributes animal models for research on NTDs.
  • The University of Maryland Brain and Tissue Bank (formerly the NICHD Brain and Tissue Bank for Developmental Disorders, supported by the IDDB) systematically collects, stores, and distributes brain and other tissues for research dedicated to the improved understanding, care, and treatment of individuals with developmental disabilities, including autism spectrum disorders.
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