This article is part of an ongoing International Women’s Day series from Clarivate Analytics celebrating women in STEM. Throughout March, we will profile the female inventors, scientists, researchers, and corporate leaders featured in Derwent, Web of Science, BioWorld, and Publons. See more articles in this series or follow our online campaign using #WomenAtClarivate.
In honor of International Women’s Day, I was asked to write an article about women inventors in genetics. A number of famous women researchers and scientists came to mind, including Rosalind Franklin (whose X-ray crystallography research paved the way to determine the structure of DNA) and Barbara McClintock (discoverer of “jumping genes” aka transposons). Scientific research and discovery are, of course, the essential foundations of invention, but to have tangible impact, an invention needs practical expression. For that, we need to look to the patent literature to see how women inventors are changing the world of genetics. Three such patenting inventors are profiled here.
Elizabeth H. Blackburn is a leading researcher in the structures at the end of our chromosomes: telomeres. Telomeres work as “caps” to help to protect the DNA within the chromosomes during cell division. They can be compared to the plastic tips on shoelaces which keep them from fraying or sticking to other strands.
In the late 70s to early 80s, Blackburn made a number of discoveries relating to telomeres, including the repeat sequence of telomeres (TTAGGG), proving that telomeres prevents chromosomes from being broken down and also finding the enzyme telomerase, which maintains the telomere sequence.
“For this work, Blackburn was awarded the Nobel Prize in Physiology or Medicine in 2009 with her co-workers Carol W. Greider, Jack W. Szostak.”
It has been found that telomeres are shortened in cancer cells, so the relationship to telomerase and cancer is a hot topic for research. It’s also been found that people with shorter telomeres are associated with shorter lives and telomere shortening is also linked with ageing.
There are three patents in GENESEQ for Blackburn:
US20020127634A1 (63 records; pubdate: 12th Sept 2002): Treating condition associated with cell senescence or increased rate of cell proliferation, by administering to cell an agent that derepresses telomerase in the senescing cells or that reduces loss of telomere length
US20070010476A1 (68 records; pubdate: 11th Jan 2007): Method, useful for inhibiting proliferation of mammalian cells having telomerase activity, comprises administering a non-polynucleotide inhibitor of telomerase, other than azidothymidine
WO2011163639A2 (4 records; pubdate: 29th Dec 2011): Determining whether subject is suitable candidate for antidepressant treatment to alleviate mood disorder, comprises measuring telomerase activity in sample from subject and determining whether the activity is lower than control value
Michelle L Hastings is a researcher in the field of antisense oligonucleotides.
Specific genes have been found to be directly related to specific diseases. This is because the product of the gene, the mRNA which goes on to produce a protein, leads to the development of a disease. For example, a specific mutation in the CFTR gene leads to cystic fibrosis. The gene mutation leads to a defective protein being produced.
Researchers have been designing and producing antisense oligonucleotides which will bind specifically to the mRNA to block it and therefore blocking the production of defective proteins. Hastings has been researching into the use of antisense oligonucleotides for the treatment of cystic fibrosis and Usher’s Syndrome and there are two patents by Hastings in GENESEQ:
US20120165389A1 (68 records; pubdate: 28th June 2012): Treating Usher’s syndrome in a human subject comprises administering to the human subject an oligonucleotide having linked nucleosides having a nucleobase sequence comprising a complementary region
US20160244767A1 (149 records; pubdate: 25th August 2016): New antisense compound comprising a modified oligonucleotide having a specified number of linked nucleosides that have a nucleobase sequence comprising a complementary region, used to treat cystic fibrosis in an animal
Another Nobel Prize winner, Linda B Buck, is a leading researcher in the olfactory system – our sense of smell – and she won the Nobel Prize in Physiology or Medicine in 2004 along with Richard Axel for their discoveries of odorant receptors and the organization of the olfactory system.
In 1991, Buck and Axel discovered how hundreds of genes code for the different odorant receptors found in our nose olfactory neurons. When an odor attaches to its specific receptor, an electrical signal is sent to the brain. Different smells attach to different receptors, leading to different signals to the brain, allowing us to recognize different scents. The first patent published in GENESEQ by Buck is from 1992:
WO1992017585A1 (59 records; pubdate: 15th October 1992): Nucleic acid encoding an odorant receptor can be used to control insect populations or for detecting odours e.g. alcohol, explosives, natural gas etc.
Buck and Axel also discovered that the odorant receptors belong to the family of G protein-coupled receptors, and there is one patent in GENESEQ for Buck which is linked to G protein-coupled receptors:
WO2013096859A1 (8 records; pubdate: 27th June 2013): Screening of G protein-coupled receptor ligands, comprises administering a candidate G protein-coupled receptor ligand to the cell and detecting the expression of cyclic adenosine monophosphate-dependent reporter gene
The inventions of Blackburn, Hastings and Buck in better treatments for cancer, genetic disease and odor detection are testament to the creativity of women in science and their contributions to the improved well-being and betterment of humankind in general.
To learn more, please visit GENESEQ.
Follow Clarivate’s blog series celebrating women in STEM: Women at Clarivate 2018