We asked attendees at PET's recent event '200 Years of Mendel – From Peas to Personalised Medicine' to name one figure, living or deceased – besides Gregor Mendel – whom they think will deserve to be remembered as a key pioneer in genetics and genomics, 200 years from now.
Here are some of the people they suggested:
Rosalind Franklin (1920-1958): The first ever photograph of DNA
An expert in crystallography and x-ray diffraction, Franklin played a key role in the discovery of the structure of DNA.
She and her PhD student took the first ever photo of DNA, known as 'Photograph 51' in 1952, regarded as one of the most important photographs ever taken. It was one of the most important pieces of evidence supporting Watson and Crick's model of the molecular structure of DNA presented the following year.
Jennifer Doudna (1964–present): CRISPR genome editing
Doudna is known for her work pioneering the CRISPR approach to genome editing, for which she and her collaborator Emmanuelle Charpentier were awarded the 2020 Nobel Prize in Chemistry.
Derived from the immune system of Streptococcus bacteria, the Cas9 enzyme uses an RNA strand as a guide so they cut DNA from invading viruses but not the bacteria's own genetic material. Repurposing this mechanism allowed the creation of guide RNAs to direct Cas9 to make cuts at target sites on DNA, leading to their 2012 publication launching CRISPR/Cas9 genome editing.
Oswald Avery (1877–1955): The genetic code is composed of DNA
While studying pneumococcus bacteria, Avery wanted to know how pneumonia strains could acquire characteristics from other strains they were mixed with.
He identified it as 'a stringy white substance that was remarkably widespread in cells, but had long been overlooked: deoxyribose nucleic acid,' or DNA. Until this discovery, it was widely considered that genes were actually made up of proteins.
Mary Lyon (1925-2014): X chromosome inactivation
Working with mice, Lyon noticed that while all female embryos with a particular mutation survived, the only males to survive this mutation were white. This led to the discovery that the gene containing the mutation is located on the X-chromosome and her hypothesis that 'one of the two X-chromosomes in every cell of female mammals is inactivated.'
This discovery paved the way for understanding the genetic basis of X-linked human diseases such as muscular dystrophy, and eventually to the discovery of the Xist gene responsible for X-inactivation.
Barbara McClintock (1902-1992): Jumping genes
McClintock was a plant geneticist who, after examining chromosomes in maize, published in 1931 that chromosomes formed the basis of genetics which at the time had not been considered.
She subsequently isolated genes that were controlling elements that could change location on the chromosome. This was her discovery of genetic transposition, otherwise known as 'jumping genes', for which she was awarded the Nobel Prize in Physiology or Medicine in 1983.
Thomas Hunt Morgan (1866-1945): Genes are arranged along chromosomes
Morgan's work with drosophila led to his hypothesis that there are sex-linked characteristics that are part of the X-chromosome of females. He even suggested that genes were arranged linearly on chromosomes.
He was able to demonstrate 'that each Mendelian gene could be assigned a specific position along a linear chromosome map.' This discovery proved to be one of the most important findings in understanding heredity, for which he won the Nobel Prize in Physiology or Medicine in 1933.
Nettie Stevens (1861-1912): Sex chromosomes
Stevens' research in mealworms led to her discovery 'that a particular combination of the chromosomes known as X and Y was responsible for the determination of the sex of an individual.'
At the time, it was not known for certain that chromosomes were involved in inheritance, so her findings were not immediately recognised, but were later were proven correct. Her research was the first to firmly link a heritable characteristic to a specific chromosome.
John Sulston (1942-2018): Open-source genomes
Sulston's research using nematode worms revealed details about programmed cell death (apoptosis) and its implications in early human development which won him the 2002 Nobel Prize for Physiology or Medicine.
Wishing to further his study of the worms by sequencing their genome, which he published in 1990, he helped found the Wellcome Sanger Institute in Cambridge, where he led the UK contribution to the Human Genome Project. He advocated for making all the data from the Human Genome Project available to the entire scientific community.
