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，是常见和严重的出生缺陷 这是由受环境压力影响的复杂基因相互作用引起的。最好的之一- 已知但仍鲜为人知的对NTD风险的影响是叶酸-1碳代谢途径。在……里面 对于临床易感人群，补充叶酸(FA)可以预防高达70%的NTD发生。 这仍然让30%的人口没有改善妊娠结局的选择。尽管英足总加强了攻势 在食物供应和维生素补充剂中，NTDS每年影响多达2300名美国新生儿和数百名新生儿 全球范围内还有数千人。外科手术和支持性护理的进步逐渐延长了患者的生命 SB患者的期望值，但他们面临着身体活动以外的许多伴随挑战 威胁到他们的生活长度和质量。今天，超过75%的活产婴儿存活到成年，还有一些 目前有16.6万名SB携带者生活在美国，其中一半以上是成年人。因此，迫切需要 不仅了解导致某人的机制，而且了解伴随而来的机制 影响健康相关生活质量(HRQOL)的出生后发育迟缓和SB共病。 重大的并发症远不止需要脑脊液分流术的脑积水，还包括骨科问题， 膀胱和肠道功能障碍。在这些共病中，神经性肠功能障碍是最少的。 在社会隔离和维护皮肤完整性方面，可能是最受限制的。此外 对于这些生理挑战，SB患者的认知发育结果可能会有很大的差异。 对患病婴儿的预后很难准确评估。了解个体遗传SB风险可能 丰富预测能力以指示代谢效率低下，改进针对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学的倾向 可以被调节以优化神经发育结果的影响。在这些临床和医疗服务的背景下 实验挑战，迫切需要形成协同协作来加速翻译 更好地诊断、预防和治疗NTDS的研究成果。 第十二届神经管缺陷国际会议将汇聚专家科学家、临床医生和 流行病学家/公共卫生官员，他们集体花费精力试图开发创新的证据 基于预防和治疗范例，可以缓解无数的临床和社会问题 与这些毁灭性的疾病有关。该小组拟于2022年5月举行的会议将把 世界领先的专家和他们的学员分享他们的最新研究和临床发现 关于非专利药品。前十一届大会的成功，催生了大量新的 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 可预防的非传染性疾病确实是可以预防的。