Rare Diseases: A Perspective on the Development of Risk During Pregnancy

Rare diseases, particularly in children, are notably heterogenous, and with their limited diagnosed populations, present difficulties in developing appropriate diagnostics, treatments and adequate clinical guidelines.  Many such rare conditions are assumed to have genetic origins although, as observed with most genetic mutations, not all patients who possess specific mutations develop the associated disease or present with identical symptoms.  

We have established a consortium to enable and support the study of fetal organ systems throughout the pregnancy and the potential impact of maternal lifestyle, environmental exposure and clinical history on influencing epigenetic changes in the fetus.  This international consortium involves GAPPS (Global Alliance to Prevent Pre-term and Stillbirths), the NIPH Mother-Child study, NIH-NICHD Human Placenta Project, Hahnemann Hospital and Christiana Healthcare System.  

The framework under development will enable published hypothesis-driven research to be integrated into both single organ system, e.g. lung, and multi-organ development, initially at an epidemiologic level and subsequently the molecular pathway/process level to identify where and when critical risks may be development and how they may be better diagnosed, managed and potentially mitigated before presentation of disease.