1. From the background to the foundation of JSHG

Gregor J. Mendel discovered laws of inheritance in 1865, however, his achievements had little impact. It was not until 1900 that the enormity of his ideas was realized (rediscovery of the Mendelian laws). Although, in 1902, the inheritance of alcaptonuria in man was reported to correspond to an autosomal recessive mode, studies of human heredity gave very few contributions to the further developments of genetics, and researches were almost confined to the fields of the plant, drosophila, fungus, E. coli and the bacteriophage. Because of impossible random mating and long one-generation in man, the species human was considered to be inappropriate for genetic researches.
Meanwhile, much knowledge was accumulated and a number of methodologies were developed to solve and answer long-standing problems/questions for human heredity, such as discovery of hemoglobinopathy, disclosure of insulin structure, discoveries of various enzymes, and development of immunology. In 1953, James Watson and Francis Crick proposed a DNA double-helix model, and in 1956, the human chromosome number was determined to be 46. During this period, Japanese geneticists gave great contributions to the development of human genetics, e.g., discoveries of three-allelism for the ABO blood group by T. Furuhata, less frequency of dizygotic twins in the Japanese than in other races by T. Komai, cytoplasmic inheritance by Y. Imai and D. Moriwaki, and of acatalasemia by S. Takahara [1, 2]. Before the World War II, a small group of Japanese geneticists made a genetics association where they meet regularly. Unfortunately, the association had to stop acting by the war. If it had held its activity, the meeting would have become the first human genetics society before the establishment of the American Society of Human Genetics (ASHG). In addition, a series of journal “Human and Heredity” was published in Osaka eight-times by H.Tomita and his colleagues.
The Japan Society of Genetics (general genetics) was working actively, but human heredity tended to be outside its scope. Therefore, in 1955, Dr. K .Tanaka appealed to some geneticists for the necessity of a society for human genetics, promoted to establish the society. Drs. N. Iseki, E. Inoue, K. Okura, M. Okajima, K. Kishimoto, K. Tanaka, Y. Hanta, H. Mitsuda, U. Murakami, T. Yanase, and others who became agreed Dr. Tanaka’s proposal and promoted to establish the society. A promoting meeting was held in October, and a preparatory committee began in December, 1955. The Japan Society of Human Genetics (JSHG) was then established and the First Annual Meeting was held at Kitazato Auditorium of Keio University in June 2-3, 1956. The first President of JSHG was appointed to Professor T. Furuhata. In the same year, First International Human Genetics Conference was held in Copenhagen, and Department of Human Genetics was first founded in Tokyo Medical and Dental University.

2. Further steps of the society development

Researches at the time of the establishment of JSHG mainly included family analysis regarding Mendelian traits, effects of consanguinity (K. Tanaka), studies of isolated populations (T. Yanase), twin studies (E. Inoue) as well as studies on blood groups (by forensic geneticists). Since Down syndrome was found to be caused by trisomy 21 by Lejeune et al., many cytogeneticists admitted to JSHG and they became a majority of its members. In addition, immunogenetics greatly progressed during a period of 1950s and 1960s.
In the 1970s, chromosome banding techniques appeared, biochemical researches on inborn errors of metabolism advanced, and prenatal diagnosis became practical. In the 1980s, various molecular-genetics technologies were growing, and consequently, these made DNA-based diagnosis reliable. Such technologies are used for the clarification of causes of not only genetic diseases but also chromosomal aberrations and multifactorial diseases. Two-thirds or more (70-80%) of papers presented in recent JSHG annual meetings are those using these methods. Along with the growing of genetic testing and clinical genetics, there are increasing papers/reports regarding bioethics (ELSI) and genetic counseling.
Genetic traits of which causative genes are cloned by JSHG members include argininemia, prolidase deficiency, maple syrup urine disease, beta ketothiolase deficiency, xeroderma pigmentosum (group A), MELAS syndrome, X-linked amerogenesis, ceruloplasmin, Morquio syndrome, familial polyposis/colon cancer, ABO blood group, DRPLA, Machado-Josef disease, non-ketosis type hyperglycinemia, congenital insensitivity to pain with anhidrosis, Beckwith-Wiedemann syndrome, isolated macular hypoplasia, spinocerebellar axaia, Parkinsonim juvenile type, Fukuyama muscular dystrophy, Engelmann disease, Sotos syndrome, Marfan syndrome type 2, Costello syndrome, earwax type, disk herniation, cardiac infarction-related gene, and so on [4].
JSHG consisted of 285 members initially, 521 ten years later in 1966, 858 in 1976, over 1000 in 1986, and of over 2,500 including oversea members in 2005.
JSHG was publishing “Japanese Journal of Human Genetics (Jpn J Hum Genet)” as the offical journal since the society establishment. However, as it was listed as “ZINRUI IDENGAKU ZASSI” in the Index Medicus, renewal was tried and was successful in 1992 as “Japanese Journal of Human Genetics (Jpn J Hum Genet)”, together with changes of its cover page design and book size (from B5 to A4). From volume 43, “Journal of Human Genetcs” has been issuing by the publisher, Springer Verlag, since 1998. It became bi-monthly from 1998, and then monthly since 2001. With much effort by Editor(s)-in-Chief, many manuscripts are submitted from oversea insitutions/geneticists, and Impact Factor, an indicator of journal quality in the world, reaches over 2.3 from previous ~0.4.

3. Executives

JSHG had secretaryship since the first time to support President, then Boards of Directors, Councilors and Inspectors were establlished, and they all hold the society. Councilors are elected through voting by society members, and President, Directors, and Inspectors are elected by Coucilors. Four-year presidential term with non-reseating is the rule. The term of other executives is two years and they are reseatable. In 2004, there are 10 Directors (two of whom are those appointed directly by President) and two Inspectors. The whole country of Japan is divided into 47 districts, and one councilor is elected for every 15 members in each district.
For accounting and routine practices of business, JSHG has Treasurer, Secretary (for General Affairs), and Publications Manager, and in addition, the Journal Editor (Editor-in-Chief) for JHG. They are appointed by President under the agreement by Board of Directors. Previous presidents, and current directors, treasurer, secretary, inspectors, editors-in-chief, and councilors are shown elsewhere.
Current ‘Bylaws of JSHG” is the one revised in October, 1998 [Please see references, and J Hum Genet 44 (4), 1999]. The four-year term rule for Directors and Councilors was agreed and approved in General Assembly (Membership Meeting) in October, 2000.

4. Activity of JSHG

Usually, annual meeting is held in autumn, and lectures open for the public as needed. In response to the increase of genetic testing and its application to disease families, JSHG, in cooperation with 9 other medical genetics-related societies, proposed and established several guidelines on genetic testing and genetic counseling, and is calling for a thorough respecting them [References]. In order to aim at more spreading genetic medicine, JSHG, together with other medical societies, petitioned for the Ministry of Health, Labor and Welfare in 1996 to consider “genetic counseling” to be incorporated into the national health insurance system.
With the aim at promoting human genetics researches, JSHG established “The JSHG Award” to honor outstanding human geneticist(s) for his/her achievements (the first recipient was awarded in 1960). In 1989, “The JSHG Encouragement Award” was also established to honor young geneticist(s) for his/her achievements [for recipients for both awards, please see reference.]
In order to improve the practical levels of medical geneticists who get involved in clinical genetics, “the Japanese Board of Medical Genetics, Clinical Geneticist” was established in 1991, and a total of 396 clinical geneticists have been qualified by 1999, and 25 (61 when included those transitionally qualified) institutions/hospitals where trainees are trained have been authorized. The Japanese Board of Medical Genetics was recognized officially by the National Board of Medical Specialist and has certified nearly 600 medical geneticists. Also, “Japanese Board of Medical Genetics, Clinical Cytogeneticist” was established in 1995, and a total of 369 cytogeneticists have been qualified, and 46 institutions /clinical reference laboratories where trainees are trained are authorized by 2005. In addition, the near future, the Japanese Board of Medical Genetics, Genetic Counselor (genetic counselors other than medical doctors) has started in 2005.
In view of the importance of knowledge of heredity and genes in the education at schools of medicine, nursing and applied heath sciences, the Education Committee has been researching the present state of human genetics education. It is obvious that much effort is necessary to enrich human genetics-related education. Incorporation of genetic counseling into the national health insurance system and governmental certification of genetic counselors are longstanding problems.


  1. Yanase T: Human genetics: Past, present and future, with special reference to major trends in Japan. Jpn J Hum Genet 42:265-316, 1997.
  2. Yanase T: Development of Human Genetics – From the First Stage to Incunabula -. Iden 53: Nos. 1-3, 1999 (in Jpn).
  3. Tanaka K: A Memory of the Initial Stage of the Japan Society of Human Genetics. Iden 35(7): 77-80, 1981 (in Jpn).
  4. “Home Page” at National Children’s Medical Center Research Institute, Department for Congenital Anomaly.