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12届神经管缺陷国际会议 神经管畸形包括脊柱裂和无脑畸形，是常见的严重出生缺陷 这是由复杂的基因相互作用引起的，而基因相互作用又受到环境压力的影响。最好的- 已知但仍知之甚少的是叶酸-一碳代谢途径对NTD风险的影响。在 在临床易感人群中，补充叶酸（FA）可预防高达70%的NTD发生。 这仍然使30%的人口没有改善妊娠结局的选择。尽管FA强化 在食物供应和维生素补充方面，NTD每年影响美国多达2，300名新生儿， 世界上还有数千人。手术和支持治疗的进步已经逐渐延长了生命 SB患者的期望，但他们面临着许多伴随的挑战，除了身体的流动性 威胁到他们生命的长度和质量。今天，超过75%的SB活产婴儿存活到成年， 目前有166，000名SB患者居住在美国，其中一半以上是成年人。因此，必须 不仅了解导致SB的机制，而且还了解导致SB的伴随机制。 影响健康相关生活质量（HRQOL）的SB的出生后发育延迟和共病。 显著的合并症远远超出需要CSF分流的脑积水，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，这是众所周知的，也许是最具限制性的。此外 对于这些身体上的挑战，SB患者的认知发育结果的范围可能差异很大。 受影响婴儿的预后难以准确评估。个体遗传SB风险的知识可以 丰富的预后能力，以指示代谢效率低下，改善定制的早期行为选择， 干预，早期筛查癫痫风险，或指示染色质重塑或表观遗传倾向 这些影响可以被调节以优化神经发育结果。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届神经管缺陷国际会议将汇集专家科学家，临床医生和 流行病学家/公共卫生官员集体花费精力试图开发创新的证据， 基于预防和治疗模式，可以减轻无数的临床和社会问题， 与这些毁灭性的疾病有关。该小组提议于2022年5月举行的会议将汇集 世界顶尖的专家和他们的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，激发了大量的新的 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。