Saturday, September 7, 2024
9/7/2024
ABSTRACT: 13th International Conference on Neural Tube Defects Neural tube defects (NTDs), including spina bifida (SB) and anencephaly, are common and severe birth defects that arise from complex gene interactions, which are influenced by environmental stresses. One of the best- known but still poorly understood influences on NTD risk is the folate-one carbon metabolic pathway. In susceptible clinical populations, folic acid (FA) supplementation can prevent up to 70% of NTD occurrences. This still leaves 30% of the population without options for improving gestational outcomes. Despite FA fortification of the food supply and vitamin supplementation, NTDs affect up to 2,300 births in the US annually and hundreds of thousands more worldwide. Advances in surgical and supportive care have progressively extended the life expectancy of SB patients, who nevertheless face numerous concomitant challenges beyond physical mobility that threaten length and quality of their lives. Today, over 75% of SB live births survive into adulthood and some 166,000 individuals with SB currently live in the US, more than half of whom are adults. Thus, it is imperative to not only understand the mechanisms leading to SB, but also the attendant mechanisms that underlie the postnatal developmental delays and comorbidities to SB that impact health related quality of life (HRQOL). Significant co-morbidities go well beyond hydrocephalus requiring CSF shunting, and include orthopedic issues, bladder and bowel dysfunction. Among these co-morbidities, neuropathic bowel dysfunction is the least understood and perhaps the most limiting in terms of social isolation and maintenance of skin integrity. In addition to these physical challenges, the range of cognitive developmental outcomes in SB patients can vary widely. Prognosis for an affected infant is difficult to accurately assess. Knowledge of individual genetic SB risk could enrich prognosis capabilities to indicate metabolic inefficiencies, improve options for tailored early behavioral intervention, early screening for epilepsy risk, or indicate propensity for chromatin remodeling or epigenetic influences that could be regulated to optimize neurodevelopmental outcome. In the setting of these clinical and experimental challenges, there is a critical need to form synergistic collaborations to accelerate the translation of research findings into better diagnoses, preventions, and treatments for NTDs. The 13th International Conference on Neural Tube Defects will bring together expert scientists, clinicians and epidemiologist/public health officials who collectively spend their energies trying to develop innovative evidenced based preventative and treatment paradigms that can mitigate the myriad of clinical and societal problems associated with these devastating disorders. The proposed meeting of this group in August 2024 will bring together the leading experts in the world as well as their trainees to share their latest research and clinical findings concerning NTDs. The success of the previous twelve conferences has spurred a vast number of new collaborations and created a consortia of research teams around the world who are striving for the day when preventable NTDs are indeed, prevented.
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