up about 1–2% of the genome but are known to contain many critical mutations related to genetic disorders. These technologies provide valuable insights for identifying genetic abnormalities, especially in complex cases where diagnosing developmental disorders is difficult. For example, in cases involving severe intellectual disabilities or multiple co-occurring symptoms, the use of WGS or WES has helped identify specific gene mutations or newly discovered genetic anomalies. These insights not only contribute to more accurate diagnoses but also support the creation of appropriate support plans. Furthermore, the scientific explanation of conditions is also helpful in providing genetic counseling to families who may be planning for future pregnancies. In addition to neuroscience and genomic analysis, multi-omics approaches, which integrate various biological data, are also being explored to develop a more personalized u n d e r s t a n d i n g o f i n d i v i d u a l n e u r o d e ve l o p m e n t a l characteristics. These advancements hold great potential for early detection of developmental disorders and personalized support, offering new ways to reveal minor genetic factors that are difficult to detect through traditional clinical assessment. Especially for severe intellectual or treatment-resistant developmental disorders, early identification of genetic abnormalities can contribute to improved support planning and higher-quality genetic counseling for families. Moving forward, integrating genomic data with neuroscience findings is expected to play a key role in shaping support systems that span from education to social services. This will be an important step toward realizing precision support which, tailors support strategies to the unique traits of each child.support strategies used in special education classes or the development of Individualized Education Plans (IEPs)*4. In addition, Takahashi et al. (2009) pointed out that there are still many privacy and ethical issues surrounding the use of genetic information in electronic health records. Therefore, it is essential to establish national-level guidelines and consensus on how to disclose results and manage unexpected findings (secondary findings).While Japan is building a strong foundation in medical technology, the systems to apply these findings in areas like education and social support are still underdeveloped. Closing this gap will be an important challenge in making genomic medicine more effective for supporting individuals with developmental disorders.function of neurotransmitters. Well-known developmental in brain regions such as the prefrontal cortex, amygdala, involved in reward networks and executive functions, including irregularities in the mechanisms that regulate factors play a significant role in developmental disorders.to disorders that may have been difficult to detect through the exons, the protein-coding regions of genes, which make the National Center for Child Health and Development and the Japan Agency for Medical Research and Development (AMED). In 2024, the government established a national identified— this information is often not reflected in the technologies have gradually clarified that developmental disorders are influenced by biological factors, such as abnormalities in the formation of neural circuits and the disorders like ADHD (Attention-Deficit/Hyperactivity Disorder) and ASD (Autism Spectrum Disorder) are shown to be associated with structural and functional abnormalities and cerebellum. In the case of ADHD, research suggests an imbalance in neurotransmission within brain regions dopamine and norepinephrine levels in the prefrontal cortex. These findings help explain difficulties in controlling behavior and sustaining attention. For ASD, numerous studies have reported gene mutations related to synapse formation and plasticity, which are thought to influence social development and unique patterns of information processing. Additionally, ADHD and ASD are known to have high familial incidence, strongly suggesting a genetic component in their onset. Studies using twin studies*1 and family history surveys*2have also indicated that genetic In understanding these processes, genomic medical technologies such as whole-genome sequencing (WGS) and whole-exome sequencing (WES) play an important role. WGS sequences the entire human genome (around three billion base pairs), allowing researchers to identify small genetic abnormalities or regions potentially related previous testing methods. In contrast, WES focuses only on In Japan, genetic research related to developmental disorders and the advancement of newborn screening*3 have been progressing, mainly led by institutions such as network of core hospitals for genomic medicine, and WGS has started to be applied clinically for certain diseases. However, its use in diagnosing developmental disorders is still very limited. Also, another major challenge is the lack of connection between the medical system and the education and welfare sectors. As a result, even when genetic findings are made—for example, when a gene mutation related to ASD is 192. How Neuroscience and Genomic Medicine are Uncovering the Mechanisms of DevelopmentalDisorders Recent advances in neuroscience and genomic analysis 3. The Current Situation of Developmental Disorders and Genomic Medicine in Japan
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