• Mendel’s paper rediscovered; Mendel’s laws proposed.note 1,  note 2

  • 1901

  • Karl Landsteiner identified ABO blood groups.note3

  • 1902

  • In consultation with William Bateson, Archibald Garrod published paper on alkaptonuria, an example of “biochemical individuality.”note4

  • 1908

  • Archibald Garrod delivered the Croonian Lectures, on “Inborn errors of metabolism.”note 5

  • 1910

  • Eugenics Record Office opened at Cold Spring Harbor, NY (Charles Davenport, director).

  • 1921

  • Erwin Baur, Eugen Fischer, and Fritz Lenz published Menschliche Erblichkeitslehre und Rassenhygiene,which became the bible of human genetics instruction in Europe and the U.S., as well as the handbook to the Nazi eugenics program.note 6

  • 1924

  • Theophilus Painter established the human chromosome number as 48.note 7

  • 1927

  • Carrie Buck sterilized under Virginia’s eugenic sterilization law.

  • 1932

  • Madge Thurlow Macklin coined term “medical genetics.”note 8
  • Laurence H. Snyder appointed America’s first professor of medical genetics, at Ohio State University.

  • 1934

  • Asbjörn Fölling of Norway described phenylketonuria.note 9

  • 1936

  • Harry Laughlin, of the Cold Spring Harbor Eugenics Record Office, accepted an award from the University of Heidelberg for his contributions to eugenics, notably his “model sterilization law,” which served as a basis for Nazi eugenics programs.

  • 1938

  • Lionel Penrose, at the Galton Institute, University College London, published the “Colchester survey” of the heredity of mental retardation.note 10

  • 1939

  • Cold Spring Harbor Eugenics Record Office closed.

  • 1941

  • First American academic department of Medical Genetics founded at Wake Forest University (William Allan, Chair). University of Michigan began Heredity Clinic (Lee Dice, Director).note 11

  • 1946

  • Lionel S. Penrose became Galton Professor at the Galton Laboratory of Eugenics, University College London.

  • 1947

  • James V. Neel and W. Jackson Schull visited Japan for Atomic Bomb Casualty Commission.

  • 1948

  • American Society for Human Genetics founded.

  • 1949

  • Linus Pauling, Harvey Itano, and colleagues identified a single electrophoretic difference between normal and sickle-cell hemoglobin; they referred to sickle cell anemia as a “molecular disease.”note 12
  • JV Neel published demographic data supporting single-gene, biallelic model for sickle cell anemia and sicklemia.note 13

  • 1950

  • F. Clarke Fraser established Division of Clinical Genetics at McGill University.note 14
  • Henrietta Lacks died of cervical cancer. George Otto Gey used cells from her body to develop the HeLa cell line.
  • UNESCO Statement on Race issued.note 15

  • 1952

  • TC Hsu added deionized water to cell medium, causing cells to swell and improving visualization of chromosomes.note 16

  • 1953

  • James Watson and Francis Crick published double-helical structure for DNA.note 17
  • James Neel, W. Jack Schull, and colleagues published ABCC report in Science.note 18

  • 1954

  • Heterozygote advantage theory of sickle-cell disease: single copy confers resistance to malaria.note 19

  • 1955

  • Starch gel electrophoresis developed.note 20
  • Using HeLa cells, Ted Puck and Philip I. Marcus modified cell cloning method, leading to standard method for cloning animal cells.note 21

  • 1956

  • Human chromosome number established as 46, not 48.note 22
  • First World Congress of Human Genetics held in Copenhagen.
  • Michigan Heredity Clinic reorganized as Department of Human Genetics (JV Neel, Chair).
  • Publication of Biological Effects of Atomic Radiation (BEAR) report to U.S. National Academy of Sciences;
  • Presentation of Medical Research Council Report "Hazards to Man of Nuclear and Allied Radiation" presented to U.K. Parliament. note 23

  • 1957

  • Divisions of Medical Genetics established at Johns Hopkins (Victor McKusick) and at University of Washington (Arno Motulsky); University of Wisconsin forms department of Medical Genetics (Joshua Lederberg)
  • Armitage and Doll published two-stage model of cancer.note 24
  • Motulsky published landmark paper on genetic idiosyncrasy in response to drugs, considered a founding paper of pharmacogenetics.
  • Vernon Ingram identified single amino acid substitution in Hb-S, providing a biochemical explanation for Pauling and colleagues’ 1949 observation. note 25

  • 1958

  • AEC’s Advisory Committee on Biology and Medicine issued statement on radioactive fallout.note 26
  • Tjio and Puck published method for visualizing human chromosomes from cultured cells.note 27

  • 1959

  • First chromosomal diseases identified:
        Jerome Lejeune identified trisomy in Down Syndrome.note 28
        MRC group (Ford, Strong, et al.) and Patricia Jacobs identify sex chromosome anomalies (XXY, XXYY, X0).note 29
  • Friedrich Vogel coined term “pharmacogenetics.”note 30

  • 1960

  • Montreal Children’s Hospital created a Cytogenetics Laboratory.
  • McKusick organized first summer course in human genetics at Jackson Laboratory, Bar Harbor, Maine.note 31
  • Denver meeting on human chromosome nomenclature held.note 32
  • Moorehead, Nowell, Hungerford, and colleagues described new method for culturing blood cells.note 33

  • 1961

  • Two new trisomies described: 13 (Patau’s syndrome) and 18 (Edwards’ syndrome).note 34
  • Nowell and Hungerford described the “Philadelphia chromosome” assoc. w/ chronic myelogenous leukemia.note 35
  • Robert Guthrie developed method for genetic screening for phenylketonuria in newborns.

  • 1962

  • Mary Lyon proposed “Lyon hypothesis,” which says that in females, one X chromosome is inactivated in each cell.note 36

  • 1963

  • Massachusetts became first state to mandate genetic testing for phenylketonuria.note 37

  • 1965

  • Quebec initiated genetic screening for phenylketonuria.note 38

  • 1966

  • First edition of  McKusick’s Mendelian Inheritance in Man.

  • 1967

  • Atlas of Mammalian Chromosomes first appeared.note 39

  • 1968

  • T. Caspersson invented “Q banding” [quinacrine].note 40
  • First restriction enzyme isolated.

  • 1969

  • Sarah Lawrence College initiated first Master’s program in genetic counseling.

  • 1971

  • National Cancer Act designated large amount of funding for cancer research; huge boost for cancer genetics.

  • 1978

  • First human gene—insulin—cloned, five years after Herbert Boyer and Stanley Cohen cloned the first gene ever.note 41

  • 1982

  • Insulin became the first genetically engineered drug.

  • 1985

  • Meetings to discuss feasibility of sequencing entire human genome, held in Santa Cruz, CA, hosted by Robert Sinsheimer, and in Santa Fe, NM, hosted by Charles DeLisi and David A. Smith.


  • DOE began pilot project to map and sequence complete human genome.

  • 1988

  • Cystic fibrosis gene mapped.note 42

  • 1989

  • National Center for Human Genome Research (later, National Human Genome Research Institute) founded.

  • 1990

  • First human gene therapy experiment.note 43
  • NIH formally launched Human Genome Project.

  • 1991

  • Genome Data Base established.

  • 1993

  • Huntington Disease gene cloned. note 44

  • 1994

  • BRCA1, a gene that contributes to susceptibility to breast cancer, was cloned.note 45
  • Genetic Privacy Act passed.note 46

  • 1997

  • Dolly the sheep was the first mammal to be cloned, at the Roslin Institute in Edinburgh.note 47

  • 1999

  • First human chromosome completely sequenced (chromosome 22).note 48

  • 2000

  • Researchers at NIH and Celera Corporation jointly announced a “working draft” of the human genome DNA sequence in a White House ceremony.


    1. Compiled by Nathaniel C. Comfort. Copyright 2006. Although some international events are cited for context, this timeline focuses primarily on American human genetics. It makes no claims to completeness or universality; it is provided for reference only. Where possible, primary research articles are cited for further reference.

    2. De Vries, Hugo. "Sur La Loi De Disjonction Des Hybrides." Comptes Rendus de l'Academie des Sciences (Paris) 130 (1900): 845-47 ; Correns, Carl. "G. Mendel's Regel Über Das Verhalten Der Nachkommenschaft Der Rassenbastarde ('G. Mendel's Law Concerning the Behavior of Progeny of Varietal Hybrids')." Berichte der deutchen botanischen Gesellschaft18 (1900): 158-68; Vries, Hugo de. "Das Spaltungsgesetz der Bastarde ('The law of segregation of hybrids')." Berichte der deutchen botanischen Gesellschaft 18 (1900): 83-90.

    3. Landsteiner, Karl. "Ueber Agglutinationserscheinungen Normalen Menschlichen Blutes." Wien. Klin. Wochenschr. 14 (1901): 1132–34.

    4. Garrod, Archibald Edward. "The Incidence of Alkaptonuria: A Study in Chemical Individuality." The Lancet2, no. 4137 (1902): 1616-20.

    5. Garrod, Archibald Edward. Inborn Errors of Metabolism: The Croonian Lectures Delivered before the Royal College of Physicians of London in June 1908. London: H. Frowde and Hodder & Stoughton, 1909.

    6. Fangerau, H. "'Baur-Fischer-Lenz' in 1921-1940 Critical Book Reviews: A Quantitative Study of Contemporary Reception of Racial Eugenics Theories." Medizinhist J 38, no. 1 (2003): 57-81

    7. Painter, Theophilus S. "The Sex Chromosomes of Man." American Naturalist 58 (1924): 506-24.

    8. Macklin, Madge Thurlow. "'Medical Genetics': A Necessity in the up-to-Date Medical Curriculum." Journal of Heredity 23 (1932): 485-86.

    9. Fölling, Asbjorn. "Uber Ausscheidung von Phenylbrenztraubensaure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillitat." Hoppe Seyler's Z Physiol Chem 227 (1934): 169-75.

    10. Penrose, Lionel S. "A Clinical and Genetic Study of 1280 Cases of Mental Defect [the Colchester Survey]." In Special Report Series, Medical Research Council, No 229.  London: Her Majesty’s Stationery Office, 1938.

    11. "The Michigan Human Heredity Clinic." Journal of Heredity 32, no. 1 (1941): 364.

    12. Pauling, Linus, H. A Itano, S. J Singer, and IC Wells. "Sickle Cell Anemia: A Molecular Disease." Science110 (1949): 543-48. See also: Strasser, Bruno J. "Linus Pauling's "Molecular Diseases": Between History and Memory." Am J Med Genet115, no. 2 (2002): 83-93

    13. Neel, James V. "The Inheritance of Sickle Cell Anemia." Science 110 (1949): 64

    14.; Fraser interview, para. 289.

    15. Beaglehole, Ernest, Juan Comas, L. A. Costa Pinto, Franklin Frazier, Morris Ginsberg, Humayun Kabir, Claude Levi-Strauss, and Ashley Montagu. "Statement on Race." edited by UNESCO. Lake Success, NY: United Nations Department of Public Information, Press and Publications Bureau, 1950

    16. Hsu, T. C. "Mammalian Chromosomes in Vitro. I. The Karyotype of Man." Journal of Heredity 43 (1952): 167-72.

    17. Watson, James D., and Francis H.C. Crick. "Molecular Structure of Nucleic Acids: A Structure for Deoxyribose Nucleic Acid." Nature 171, no. 25 April 1953 (1953): 737–38 doi:10.1038/171737a0.

    18. Neel, J. V., W. J. Schull, D. J. McDonald, N. E. Morton, M. Kodani, K. Takeshima, R. C. Anderson, J. Wood, R. Brewer, S. Wright, J. Yamazaki, M. Suzuki, and S. Kitamura. "The effect of exposure to the atomic bombs on pregnancy termination in Hiroshima and Nagasaki: preliminary report." Science 118, no. 3071 (1953): 537-41.

    19. Allison, Anthony C. "The Distribution of Sickle Cell Trait in East Africa and Elsewhere and Its Apparent Relationship to the Incidence of Subtertian Malaria." Transactions of the Royal Society for Tropical Medicine48 (1954): 328-18

    20. Smithies, O. "Zone Electrophoresis in Starch Gels: Group Variations in the Serum Proteins of Normal Human Adults." Biochemical Journal 61, no. 4 (1955): 629-41

    21. Puck, T. T., and P. I. Marcus. "A Rapid Method for Viable Cell Titration and Clone Production with Hela Cells in Tissue Culture: The Use of X-Irradiated Cells to Supply Conditioning Factors." Proc Natl Acad Sci U S A 41, no. 7 (1955): 432-7; Henry Harris, The Cells of the Body p. 47.

    22. Tjio, Joe H, and Albert Levan. "The Chromosome Number of Man." Hereditas 42 (1956): 1–6; Ford, C. E, and J. L Hamerton. "The Chromosomes of Man." Nature 178 (1956): 1020

    23. Guthrie, Robert. "Blood screening for phenylketonuria." JAMA 178 (1961): 863.

    24. Armitage, P., and R. Doll. "A Two-Stage Theory of Carcinogenesis in Relation to the Age Distribution of Human Cancer." Br J Cancer 11, no. 2 (1957): 161-9 .

    25. Ingram, Vernon M. "Gene mutations in human haemoglobin: the chemical difference between normal and sickle cell haemoglobin." Nature 180 (1957): 326–28.

    26. Glass, Bentley (with other members of the Advisory Committee on Biology and Medicine of the Atomic Energy Commission). "Statement on radioactive fallout." Amer. Sci. 46 (1958): 138–50.

    27. Tjio, Joe Hin, and Theodore T. Puck. "Genetics of Somatic Mammalian Cells. Ii. Chromosomal Constitution of Cells in Tissue Culture." Journal of Experimental Medicine 108 (1958): 259.

    28. Lejeune, J., M. Gautier, and R. Turpin. "The Chromosomes of Man." Lancet 1, no. APR25 (1959): 885-85; Lejeune, Jerome, Marthe Gautier, and Raymond Turpin. "Étude Des Chromosomes Somatiques De Neuf Enfants Mongoliens (Study of the Somatic Chromosomes of Nine Mongoloid Idiot Children)." Comptes Rendus des l'Academie des Sciences 248 (1959): 1721-22.

    29. Jacobs, P. A., A. G. Baikie, W. M. Court Brown, and J. A. Strong. "The Somatic Chromosomes in Mongolism." Lancet 273, no. 7075 (1959): 710; Ford, C. E., P. E. Polani, J. H. Briggs, and P. M. Bishop. "A Presumptive Human XXY/XX Mosaic." Nature 183, no. 4667 (1959): 1030-2; Ford, C. E., K. W. Jones, P. E. Polani, J. C. De Almeida, and J. H. Briggs. "A Sex-Chromosome Anomaly in a Case of Gonadal Dysgenesis (Turner's Syndrome)." Lancet 273, no. 7075 (1959): 711-3; Ford, C. E., K. W. Jones, O. J. Miller, U. Mittwoch, L. S. Penrose, M. Ridler, and A. Shapiro. "The Chromosomes in a Patient Showing Both Mongolism and the Klinefelter Syndrome." Lancet 273, no. 7075 (1959): 709-10; Jacobs, Patricia A., and J. A. Strong. "A Case of Human Intersexuality Having a Possible Xxy Sex-Determining Mechanism."Nature 183 (1959): 302-03; Jacobs, P. A., A. G. Baikie, W. M. Court Brown, H. Forrest, J. R. Roy, J. S. Stewart, and B. Lennox. "Chromosomal Sex in the Syndrome of Testicular Feminisation." Lancet 2 (1959): 591-2; Jacobs, P. A., A. G. Baikie, W. M. Brown, T. N. Macgregor, N. Maclean, and D. G. Harnden. "Evidence for the Existence of the Human "Super Female"."Lancet 2 (1959): 423-5

    30. Vogel, Friedrich. "Moderne Problem Der Humangenetik." Ergeb. Inn. Med. U. Kinderheilk. 12 (1959): 52-125.

    31. McKusick, V. A., J. Naggert, P. Nishina, and D. Valle. "40 years of the annual 'Bar Harbor Course' (1960-1999): a pictorial history." Clin Genet 55, no. 6 (1999): 398-415. See also McKusick OH.

    32. "A Proposed Standard System of Nomenclature of Human Mitotic Chromosomes (Denver, Colorado)."Ann Hum Genet 24 (1960): 319-25.

    33. Moorhead, P. S., P. C. Nowell, W. J. Mellman, D. M. Battips, and D. A. Hungerford. "Chromosome preparations of leukocytes cultured from human peripheral blood." Exp Cell Res 20 (1960): 613-6. Barbara Migeon says this made it really possible to look at human chromosomes in a practical way.

    34. Patau, K., D. W. Snuth, E. Therman, S.L. Inhorn, and H. P. Wagner. "Multiple Congenital Anomaly Caused by an Extra Autosome." Lancet 275, no. 7128 (1960): 790-93; Edwards, J. H., D. G. Harnden, A. H. Cameron, V. M. Crosse, and O. H. Wolff. "A New Trisomic Syndrome." Lancet 1 (1960): 787-90.

    35. Nowell, P. C., and D. A. Hungerford. "Minute Chromosome in Human Chronic Granulocytic Leukemia."Science 132, no. 3438 (1960): 1497-97

    36. Lyon, Mary F. "Sex Chromatin and Gene Action in the Mammalian X-Chromosome." American Journal of Human Genetics 14 (1962): 135-48

    37. Guthrie, R., and Whitney, S., “Phenylketonuria Detection in the Newborn Infant as a Routine Hospital Procedure,” Publication No. 419. Washington, D.C.: U.S. Dept. Health, Education, and Welfare, 1964.

    38. Clow, C., C. R. Scriver, and E. Davies. "Results of mass screening for hyperaminoacidemias in the newborn infant." Am J Dis Child 117, no. 1 (1969): 48-53,file://localhost/Volumes/iDisk/Documents/iDisk%20docs/PDFs/ScriverA037.pdf.

    39. McKusick, Victor A. Mendelian Inheritance in Man; Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes. Baltimore,: Johns Hopkins Press, 1966; Hsu, T. C., and Kurt Benirschke. "An Atlas of Mammalian Chromosomes." 10 v. New York [etc.]: Springer-Verlag, 1967.

    40. Caspersson, T., S. Farber, G. E. Foley, J. Kudynowski, E. J. Modest, E. Simonsson, U. Wagh, and L. Zech. "Chemical differentiation along metaphase chromosomes." Exp Cell Res 49, no. 1 (1968): 219-22.

    41. Villa-Komaroff, L., A. Efstratiadis, S. Broome, P. Lomedico, R. Tizard, S. P. Naber, W. L. Chick, and W. Gilbert. "A Bacterial Clone Synthesizing Proinsulin." Proc Natl Acad Sci U S A 75, no. 8 (1978): 3727-31

    42. Drumm, M. L., C. L. Smith, M. Dean, J. L. Cole, M. C. Iannuzzi, and F. S. Collins. "Physical Mapping of the Cystic Fibrosis Region by Pulsed-Field Gel Electrophoresis." Genomics 2, no. 4 (1988): 346-54

    43. Beardsley, T. "Profile: Gene Doctor. W. French Anderson Pioneers Gene Therapy." Sci Am 263, no. 2 (1990): 33-33B .

    44. Gusella, J. F., N. S. Wexler, P. M. Conneally, S. L. Naylor, M. A. Anderson, R. E. Tanzi, P. C. Watkins, K. Ottina, M. R. Wallace, A. Y. Sakaguchi, and et al. "A Polymorphic DNA Marker Genetically Linked to Huntington's Disease." Nature 306, no. 5940 (1983): 234-8.

    45. Miki, Yoshio, Mark H. Skolnick, et al. "A Strong Candidate for the Breast and Ovarian Cancer Susceptibility Gene Brca1." Science 266, no. 5182 (1994): 66-71

    47. Wilmut, I., A. E. Schnieke, J. McWhir, A. J. Kind, and K. H. Campbell. "Viable Offspring Derived from Fetal and Adult Mammalian Cells." Nature 385, no. 6619 (1997): 810-3. doi:10.1038/385810a0.

    48. Dunham, I.,  et al. "The DNA Sequence of Human Chromosome 22." Nature 402, no. 6761 (1999): 489-95. doi:10.1038/990031.

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