Origins of human genetics. A personal perspective

Abstract

Genetics evolved as a field of science after 1900 with new theories being derived from experiments obtained in fruit flies, bacteria, and viruses. This personal account suggests that the origins of human genetics can best be traced to the years 1949 to 1959. Several genetic scientific advances in genetics in 1949 yielded results directly relating to humans for the first time, except for a few earlier observations. In 1949 the first textbook of human genetics was published, the American Journal of Human Genetics was founded, and in the previous year the American Society of Human Genetics. In 1940 in Britain a textbook entitled Introduction to Medical Genetics served as a foundation for introducing genetic aspects into medicine. The introduction of new methods for analyzing chromosomes and new biochemical assays using cultured cells in 1959 and subsequent years revealed that many human diseases, including cancer, have genetic causes. It became possible to arrive at a precise cause-related genetic diagnosis. As a result the risk of occurrence or re-occurrence of a disease within a family could be assessed correctly. Genetic counseling as a new concept became a basis for improved patient care. Taken together the advances in medically orientated genetic research and patient care since 1949 have resulted in human genetics being both, a basic medical and a basic biological science. Prior to 1949 genetics was not generally viewed in a medical context. Although monogenic human diseases were recognized in 1902, their occurrence and distribution were considered mainly at the population level.

Thalidomid-Embryopathie 60 Jahre

“…Eine analytische Betrachtung dieser Möglichkeiten liegt jedoch jenseits der Ziele dieser Arbeit. bei Neugeborenen mit Fehlbildungen postnatal und in fetalen Geweben, die Aufklärung hereditärer Stoffwechseldefekte in der Zellkultur und andere wesentliche Fortschritte (28). In den Jahren 1961 bis 1973 wurden an medizinischen Fakultäten im Bundesgebiet 15 neue Lehrstühle für Humangenetik eingerichtet [29].…”

In Memoriam: “Holstein cows in Holstein.” Victor A. McKusick: 40 years of remembrance from Europe

“…(McKusick, 1969, 1973). Elsewhere I have outlined in more detail the bases for a genetic classification according to pathogenesis and etiology (Passarge, 2021).…”

“…Prior to 1949, genetics did not involve human and medical aspects. Whereas the origins of human genetics can best be dated to 1949 (Passarge, 2021), medical genetics arose about from 1959 on, when newly discovered chromosome abnormalities, hereditary metabolic defects, and molecular technology helped in defining new human diseases due to different genetic causes. Victor McKusick was one of the first to recognize how important the integration of genetic considerations into patient care would be.…”

CRISPR and Artificial intelligence to improve precision medicine: Future Perspectives and Potential Limitations

“…The Cas9 protein binds to the target site with high fidelity in the presence of gRNA and activates a double-strand break followed by repair mechanisms 13,14 . The Origins of many human diseases is related to genetic defects 15,16 ; a better understanding of human genetic structure has been of interest to researchers and scientists for years 17 . But unfortunately, due to the complexity and high volume of required data, the progress in this field was stopped [18][19][20] .…”