Today we celebrate the International Day of Women and Girls in Science. Although there has been a lot of work to engage women and girls in science, they are still under-represented at all career levels. Many barriers have been identified that mean the journey of a woman scientist may not be as easy as for their male counterparts.

Here we highlight just some of the women pioneers of genetics. Their contribution to the field helped build a strong foundation and understanding of genetics. This has further paved the way for research into rare genetic conditions, including BHD. In many cases, the tenacity of these women in the face of discrimination has paved the way for generations of women who are now at the forefront of scientific research. 

Rosalind Franklin (1920 – 1958)

Probably the most well-known female researcher in this list, Rosalind Franklin was a British scientist whose work led to our understanding of the structure of DNA. She used a technique called x-ray crystallography to create photographs that showed the double-helix structure of DNA. This work was used by James Watson and Francis Crick to describe the structure of DNA in a paper in 1953. Despite her work being key to this, Franklin was not acknowledged, and she was unaware her photos had been used. Watson and Crick shared the Nobel prize in 1962 for their work. Franklin died 4 years before this from ovarian cancer, aged 37. Only after her death were her contributions recognised.

Martha Chase (1927 – 2003)

Martha Chase and Alfred Hershey were American geneticists. In a paper published in 1952, they confirmed that DNA was the genetic material of life. Prior to this, there was much debate in the field as to whether genetic material was composed of DNA or of protein. Sadly, Chase was not recognised for her contributions in the same way as her male counterpart. Only Hershey was awarded the Nobel Prize in 1969 for this discovery.

Leena Peltonen-Palotie (1952 – 2010)

Leena Peltonen-Palotie was a Finnish scientist who studied the genetics of disease. Her work helped identify more than 20 genes responsible for a group of inherited genetic conditions known as Finnish Heritage Diseases. She was also an excellent science communicator and appeared on television explaining the importance of her work to the public.

Lihadh Al-Gazali (1950 – )

Lihadh Al-Gazali, born in Iraq, pioneered the study of genetic disorders in Arab countries. She has identified and described several genetic disorders, many of which are rare in the rest of the world. She even has a condition named after her – Al-Gazali syndrome. Al-Gazali also works tirelessly to raise awareness of inherited conditions among Arab countries. She has established clinics and a laboratory to help diagnose genetic disorders and offer genetic counselling.

Mary-Claire King (1946 – )

Mary-Claire King is an American geneticist who discovered that breast cancer could be inherited due to mutations in the gene BRCA1. At the time, most scientists thought that cancer was caused by a virus. Her work on the idea that genetics could cause cancer was fairly novel in the field. In 1976, King was hired to run her own research lab, despite being told she was only hired because she was a woman. Most research labs were run by men, and although there were efforts to hire more women, there was a lot of push-back in the field from those who weren’t used to the idea of women in positions of authority. BRCA1 was identified in 1990, after 17 years of work trying to find a genetic link to breast cancer. A second gene, BRCA2, was identified in 1995, along with the discovery that mutations in these genes also increased the risk of ovarian cancer.

Special Mention: Henrietta Lacks (1920 – 1951)

Although not a scientist, it is arguable that Henrietta Lacks has contributed more to the progression of medical research than any other person. Born in 1920, she died age 31 of an aggressive form of cervical cancer. She was under the care of doctors at the Johns Hopkins Hospital in Baltimore, Maryland, one of the few hospitals that provided treatment to Black people at that time.

While treating her disease, samples of her tumour were taken. Some of the cancerous cells from this sample were passed on to a scientist without Lacks’ knowledge or consent. This scientist, Dr George Gey, found that Lacks’ cells were able to survive and multiply in the laboratory. This was the first time cells could grow outside of a body in a laboratory. Lacks’ cells were in essence, immortal.

The cells, named HeLa (after the first 2 letters in Henrietta Lacks) have been shared widely among scientists around the world. Today, work using her cells has led to key discoveries in many research areas including cancer, immunology and infectious diseases. Now, some scientists have called for a reduction in the use of the HeLa cells, as they were taken unethically without Lacks’ knowledge or consent. However, the Lacks family don’t want this to happen. They want to celebrate her life, honour her legacy and acknowledge her history. They also want to educate future generations on the impact of her cells. Find out more about Henrietta Lacks here.

The Myrovlytis Trust and BHD Foundation are passionate about gender equality in research. We recognise the achievements of the women in this article and so many others that have contributed to advancing our scientific understanding, often in the face of adversity. We understand there is still a long way to go to reach gender equality in science. We strive to support women in science where possible. At our virtual BHD Symposium held in October 2021, nearly half (10 out of 22) of our research talks were given by women. In the patient-focused sessions, 5 out of 8 speakers were women. If you missed our patient-focused sessions, you can watch them here. We are also very excited to be planning a patient-focused symposium later this year. To be the first to know about our plans, sign up to our newsletter here.