Milestones of medical genetics
A short timeline from Mendel's peas to sequencing a newborn's genome in days.
Key facts
- 1865: Mendel described the rules of inheritance from pea crosses; they were rediscovered in 1900.
- 1902–1908: Garrod showed that alkaptonuria follows recessive inheritance and called such diseases «inborn errors of metabolism».
- 1910s: Morgan's work on fruit flies placed genes on chromosomes (Nobel Prize 1933).
- 1944: Avery, MacLeod and McCarty showed that DNA carries hereditary information; 1953: the double helix (Nobel Prize 1962).
- 1956: the human chromosome number was set at 46; 1959: trisomy 21 was found in Down syndrome.
In detail
- 1977: Sanger sequencing; 1980s: DNA markers made linkage mapping possible, leading to the genes for cystic fibrosis (1989) and Huntington disease (1993).
- 1990: the first approved human gene therapy trial, for ADA deficiency.
- 2003: the Human Genome Project completed the reference sequence; 2022: the first truly complete, gap-free human genome.
- 2005 onwards: massively parallel sequencing made exomes and genomes affordable; 2012: CRISPR–Cas9 genome editing; 2023: the first approved CRISPR therapy, for sickle cell disease and β-thalassaemia.
- Also called
- History of genetics
Clinical notes
- Each step changed practice: karyotyping made chromosome diagnosis possible, linkage brought prenatal diagnosis to families, and sequencing brought diagnosis to most rare-disease clinics.
Test yourself
Think of the answer, then tap the question to see it.
Who first described a human disease as an «inborn error of metabolism», and which one?
Archibald Garrod, with alkaptonuria.
When was trisomy 21 identified as the cause of Down syndrome?
In 1959, three years after the human chromosome number was established.
What did Avery, MacLeod and McCarty show in 1944?
That DNA is the molecule that carries hereditary information.
Connections
Educational information, not medical advice. For any symptom, see a health professional.
Sources: The Nobel Prize in Physiology or Medicine 1933 (NobelPrize.org (Nobel Prize Outreach), 2026); The Nobel Prize in Physiology or Medicine 1962 (NobelPrize.org (Nobel Prize Outreach), 2026); The Human Genome Project (National Human Genome Research Institute (NHGRI), 2026).
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Representative model, for educational purposes only.