12th International Conference on Neural Tube Defects

第十二届国际神经管缺陷会议

• 批准号: 10469136
• 负责人: RICHARD H. FINNELL
• 金额: $ 1.5万
• 依托单位: BAYLOR COLLEGE OF MEDICINE
• 依托单位国家: 美国
• 财政年份: 2022
• 资助国家: 美国
• 起止时间: 2022-05-01 至 2023-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10469136
• 关键词: Address; Adult; Affect; Anencephaly and spina bifida X linked; Animal Model; Area; Behavior Therapy; Biochemistry; Biological Models; Biological Sciences; Birth; Bladder; Carbon; Caring; Cellular biology; Cerebrospinal fluid shunts procedure; Clinical; Cognitive; Collaborations; Communication; Communities; Complex; Congenital Abnormality; Development; Developmental Delay Disorders; Diagnosis; Discipline; Disease; Embryology; Engineering; Environment; Epidemiologist; Epidemiology; Epigenetic Process; Epilepsy; Evaluation; Event; Face; Folic Acid; Food Supply; Fostering; Functional disorder; Genetic; Genomics; Goals; Group Meetings; Growth; Hydrocephalus; Individual; Infant; International; Intervention; Intestines; Knowledge; Learning; Length; Life Expectancy; Live Birth; Maintenance; Medical; Metabolic; Metabolic Pathway; Neural Tube Defects; Neuropathy; Operative Surgical Procedures; Oral; Orthopedics; Outcome; Patients; Population; Pregnancy; Prevention; Prevention strategy; Preventive treatment; Prognosis; Public Health; Research; Research Personnel; Risk; Scientist; Shapes; Skin; Social isolation; Spinal Dysraphism; Supplementation; Supportive care; Surveys; Texas; Translational Research; Translations; Travel; Universities; Vitamins; Work; austin; career; chromatin remodeling; clinical care; comorbidity; early screening; environmental stressor; evidence base; folic acid supplementation; fortification; gene interaction; health related quality of life; improved; innovation; interdisciplinary approach; interest; malformation; meetings; multidisciplinary; neural model; next generation; novel; pandemic disease; posters; postnatal; prevent; programs; success; symposium; translational study; treatment strategy

ABSTRACT: 12th 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 12th 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 May 2022 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 eleven 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.

摘要：第十二届国际神经管缺陷会议 神经管缺陷 (NTD)，包括脊柱裂 (SB) 和无脑畸形，是常见且严重的出生缺陷 由复杂的基因相互作用产生，并受到环境压力的影响。最好的之一—— 已知但仍知之甚少的对 NTD 风险的影响是叶酸一碳代谢途径。在 对于易感的临床人群，补充叶酸（FA）可以预防高达 70% 的 NTD 发生。 这仍然使 30% 的人口无法改善妊娠结局。尽管FA设防 在食品供应和维生素补充剂方面，NTD 每年影响美国多达 2,300 名新生儿和数百名新生儿 全球还有数千人。手术和支持治疗的进步逐渐延长了寿命 SB 患者的期望，但除了身体活动能力之外，他们还面临着许多随之而来的挑战 威胁他们生命的长度和质量。如今，超过 75% 的 SB 活产婴儿能存活到成年，其中一些 目前美国有 166,000 名 SB 患者，其中一半以上是成年人。因此，当务之急是 不仅要了解导致 SB 的机制，还要了解 SB 背后的伴随机制 影响健康相关生活质量 (HRQOL) 的产后发育迟缓和 SB 合并症。 严重的合并症远远超出了需要脑脊液分流的脑积水，还包括骨科问题、 膀胱和肠道功能障碍。在这些合并症中，神经性肠功能障碍最少 在社会隔离和维护皮肤完整性方面，理解可能是最大的限制。此外 针对这些身体挑战，SB 患者的认知发育结果范围可能存在很大差异。 受影响婴儿的预后很难准确评估。了解个体遗传性 SB 风险可以 丰富预后能力以指示代谢低效，改善定制早期行为的选择 干预、早期筛查癫痫风险，或表明染色质重塑或表观遗传倾向 可以调节以优化神经发育结果的影响。在这些临床和 实验挑战，迫切需要形成协同合作以加速翻译 更好地诊断、预防和治疗 NTD 的研究成果。 第 12 届国际神经管缺陷会议将汇集专家科学家、临床医生和 流行病学家/公共卫生官员共同花费精力试图开发创新的证据 基于预防和治疗范式，可以减轻无数的临床和社会问题 与这些破坏性的疾病有关。该小组拟议于 2022 年 5 月举行的会议将汇集 世界领先的专家及其学员分享他们的最新研究和临床发现 关于 NTD。前十一届会议的成功举办，激发了大批新人 合作并创建了一个由世界各地的研究团队组成的联盟，他们正在努力争取有一天 可预防的 NTD 确实是可以预防的。