ABSTRACT
The incredible speed at which research into the human genome has recently progressed has led to the widespread use of genomic data in clinical settings. The day will soon come when clinical practice that fails to utilize patients' genomic data will be considered outdated and will pose a high risk of legal action. In this lecture, I discuss several topics: 1.the progress of human genomic research, 2. Homo sapiens as just one of the many species on Earth; 3. the clinical applications of genomic research findings, with Kawasaki disease as an example;and 4.the current state of genomic research and its future prospects. Medical researchers and doctors have long dreamed of a day when health care services based on each individual's genomic data will be a reality;this is usually referred to as “madeto-order medicine,” “tailor-made medicine,” “personalized medicine,” and most recently, “precision medicine.” Thanks to the recent rapid development of genomic analysis,such as next-generation sequencing,as well as that of statistical analysis methods, it has been said that individual genomic data were available at a cost as low as$1,000 in 2014. Our planet is 4.6 billion years old, and life began 3.8 billion years ago. Since then,the Earth has witnessed the evolution of prokaryotic and eukaryotic unicellular organisms, followed by multicellular organisms, photosynthetic plants, the Cambrian explosion of marine life, and the emergence of land-dwelling creatures. Our mammalian ancestors appeared during the age of the dinosaurs, which suffered a mass extinction due to a dramatic change in climate caused by an asteroid impact. The small dinosaurs that survived evolved into today's birds while the mammals of that era evolved to successfully occupy a diverse array of ecological niches. The human family appeared about 2.5 million years ago in Africa. Archaic humans, such as Homo neanderthalensis, lived among our Homo sapiens ancestors, who appeared about 200,000 years ago. Now we know that 21%of the human genome has genes in common with prokaryotes and other eukaryotes. The difference between our genome and that of the gorilla and the chimpanzee is only 2% and 1%, respectively. Among Homo sapiens, the difference between any two individuals is only 0.2%, which manifests as differences in skin color, disease susceptibility, and other traits. Kawasaki disease was identified by Dr.Tomisaku Kawasaki, who reported his findings in 1967. Since then, vigorous efforts have been made to identify the cause of the disease, but so far, nothing specific has been found. We therefore took a genome-based approach and identified several genes responsible for the development of Kawasaki disease. Because some of the identified genes are thought to participate in the Ca2+-NFAT signal transduction pathway, we hypothesized that cyclosporine A, which is known as a suppressor of this pathway, might be useful in the treatment of the disease. We performed an investigator-initiated clinical trial and confirmed our hypothesis. This was one of the first clinical applications based on human genome research. Now, there are several large-scale genome-based projects, such as the UK Biobank, that are open to any researcher who would like to make use of their resources. They also contain clinical information and patient data, such as socioeconomic status, and educational background. With these kinds of resources at our disposal, we can expect great accomplishments in the not-too-distant future.
ABSTRACT
As part of the special study project of the Japanese Association of Rural Medicine (JARM), a questionnaire survey was conducted to probe into the attitude of rural people toward their eating habits and health. Most of the people surveyed had received health checkups carried out by medical facilities affiliated with the JARM. Questionnaires were distributed to a total of 5,397 people (2,588 men; 2,809 women) living in and around provincial cities. Mean age was 53.4 for men and 53.8 for women. More than half of those questioned were farmers or had experienced in farming. The people aged 80 and older accounted for 3.2% of the total. Eighty percent of the total said they felt happy, and those who felt short of exercise also represented 80%, but with advancing age, the ratio decreased. Those over the age of 70 who said they had a habit of taking exercise made up as high as 60%. Many said they were satisfied with food in terms of quantity, but not a few people expressed uneasiness about food safety, dietary life and supply of food. Regarding favorite foodstuffs, many gave rice, vegetables and dairy products. There was a tendency for older people to eat meat less. It was found that, with increasing age, people took to eat dairy products, soybeans, vegetables, fruits and fish were ranked among the most popular foodstuffs. A study of factors related to local production for local consumption and commitment to agriculture found that a significantly large number of people were interested in social participation, eating breakfast, securing food supply and purchasing foodstuffs at outlet stores run by local agricultural cooperatives. From these findings, it was suggested that many residents in and around provincial cities oriented themselves to healthy eating habits and lifestyle, and were very interested in social participation, local economy, agricultural production and consumption of local farm produce.
ABSTRACT
<b>Objective:</b> Early life events connected with the risk of later disease can occur not only <i>in utero</i>, but also in infancy. In study of the developmental origins of health and disease, the relationship between infantile growth patterns and adolescent body mass index and blood pressure is one of the most important issues to verify.<br><b>Materials and Methods:</b> We analyzed the correlation of current body mass index and systolic blood pressure of 168 female college students with their growth patterns <i>in utero</i> and in infancy.<br><b>Results:</b> Body mass index and systolic blood pressure in adolescence showed positive correlations with changes in weight-for-age z scores between 1 and 18 months but not with those between 18 and 36 months. Stepwise multiple regression analysis showed that both change in weight-for-age z scores from 1 to 18 months and body mass index at 1 month were significantly and independently associated with systolic blood pressure in adolescence. Body mass index at 36 months was positively correlated with body mass index in adolescence, while body mass index at birth was negatively correlated with body mass index in adolescence.<br><b>Conclusion:</b> Our findings shows that restricted growth <i>in utero</i> and accelerated weight gain in early infancy are associated with the cardiovascular risk factors of high systolic blood pressure and high body mass index in adolescence. In Japan, an increasing proportion of low birth weight infants and accelerated catch-up growth after birth have been observed in recent decades. This might be an alarming harbinger of an increase in diseases related to the developmental origins of health and disease in Japan.