How the ARCH Project Could Contribute to Strengthening ASEAN Regional Capacities on Disaster Health Management (DHM)

Objective: The Project for Strengthening the ASEAN Regional Capacity on Disaster Health Management (ARCH Project) developed Regional Collaboration Drills (RCDs) and is proposing an ASEAN Academic Network to strengthen capacity in disaster health management (DHM) in ASEAN Member States (AMS), as well as developing a standard training curriculum in DHM. This study aims to clarify the impacts and sustainability of the ARCH Project. Methods: The four previous RCDs and the enhancement of academic activities were reviewed. Results: The ARCH Project developed the RCDs with simulation exercises based on possible disaster scenarios in each host country to test and validate the capacity of AMS International Emergency Medical Teams (I-EMTs), the Standard Operating Procedure (SOP) for I-EMT coordination, and regional tools, as well as the relevant domestic SOPs of the host countries for receiving international assistance. Following the RCD in Thailand, three AMS: Viet Nam, Philippines, and Indonesia, all of which are considered disaster-prone, successfully hosted RCDs with significant improvements. The project also established a sub-working group (SWG) to develop a standard curriculum in DHM. Two curricula developments, the Basic Course on DHM and In-Country Course for Coordination on EMTs, are on-going as part of the project activity. The establishment of the ASEAN Academic Network and the ASEAN Institute for DHM (AIDHM) are currently in the endorsement process of the ASEAN health sector. Conclusion: The RCDs are very effective to test and to validate the SOP and regional tools developed, providing opportunities for AMS I-EMT to familiarize the tools, as well as for host countries to assess their coordination capacity for receiving international assistance and identifying the country's specific challenges, and verifying ASEAN regional coordination mechanism. The development of the standard curriculum can enhance regional capacity both in supporting disaster-affected countries and in receiving international assistance. A sustainable capacity development mechanism in DHM is envisaged through the establishment of the ASEAN Academic Network and AIDHM toward the goal of One ASEAN One Response

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

Ablepharon macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are rare congenital ectodermal dysplasias characterized by similar clinical features. To establish the genetic basis of AMS and BSS, we performed extensive clinical phenotyping, whole exome and candidate gene sequencing, and functional validations. We identified a recurrent de novo mutation in TWIST2 in seven independent AMS-affected families, as well as another recurrent de novo mutation affecting the same amino acid in ten independent BSS-affected families. Moreover, a genotype-phenotype correlation was observed, because the two syndromes differed based solely upon the nature of the substituting amino acid: a lysine at TWIST2 residue 75 resulted in AMS, whereas a glutamine or alanine yielded BSS. TWIST2 encodes a basic helix-loop-helix transcription factor that regulates the development of mesenchymal tissues. All identified mutations fell in the basic domain of TWIST2 and altered the DNA-binding pattern of Flag-TWIST2 in HeLa cells. Comparison of wild-type and mutant TWIST2 expressed in zebrafish identified abnormal developmental phenotypes and widespread transcriptome changes. Our results suggest that autosomal-dominant TWIST2 mutations cause AMS or BSS by inducing protean effects on the transcription factor's DNA binding