A Heroic Biologist by Emily Lauterpacht

Mary-Claire King was born 27th February, 1946 in the USA. She is a human geneticist and one of my biological heroes.

Mary-Claire King is known for 3 main things:

• Identifying genes linked to breast and ovarian cancer
• Showing that humans and chimpanzees are 99% genetically identical
• Human rights work, especially with the Abuelas de Plaza de Mayo

She has also done research into AIDs, worked on the Human Genome Diversity Project and raised a daughter as a single mother, amongst many, many other great achievements. 

While Mary-Claire King was working at Berkeley in 1990, she discovered a single gene on chromosome 17 (later known as BRCA1), which was linked to having breast and/or ovarian cancer. Not only was this discovery in itself amazing, it also brought about a new way of looking at complex diseases such as cancer, which many scientists at the time didn't believe were related to genetics. Since then, BRCA2 and other genes have been found to be related to breast and ovarian cancers too. 

The Locus of BRCA1 on Chromosome 17

There are now debates as to whether to bring in screening for the genes. Dr King strongly believes that screenings should be brought in, and if they are, her discovery could save millions of lives, as 83% of BRCA 1 mutation carriers alone develop breast or ovarian cancer by the age of 80. 

Mary-Claire King extended the techniques that she used in researching breast cancer genes, and they are now used to study many other illnesses. For example, since 1990, King has been working with many other scientists to identify genetic causes of hearing loss and deafness, and in 1999, they managed to clone a non-syndromic deafness-related gene for the first time. 

As mentioned above, Dr King worked with the Abuelas de Plaza de Mayo from 1984. During the Dirty War (1976-1983), young people were stolen by soldiers, under the military dictatorship. Many of these were young women, who had young children, were pregnant or soon became pregnant. The children of these women were usually "adopted" by military families illegally (i.e. the mother didn't consent to this). 

Abuelas de Plaza de Mayo

Through looking at mitochondrial DNA, which is inherited only through mothers, and human leukocyte antigen serotyping genetic markers from dental samples,  King was able to match the children with their grandmothers. Mary-Claire King's work was used in court, and is accredited with reuniting about 15% of all missing children with their real families. 

In 1993, King used the same technique in the village of El Mozote, El Salvador, where over 750 people had been murdered, to identify the remains of these people. Dr King's technique has now become a key way to identify both the deceased and the living genetically and has been used to identify missing people in over 12 countries. 

Currently, Dr King is using genomic sequencing to evaluate DNA of women who have breast cancer and their families, in a bid to identify more genes that may cause breast cancer. 

Emily Lauterpacht

Twitter by Emily Lauterpacht

I am now running the Rugby School Biology Twitter page. Follow us at @RSBiologyTurkey

Emily Lauterpacht

Turtles in Costa Rica by Emily Lauterpacht

After the marine biology trip that I went on this summer, I have found turtles and their nesting habits very interesting. Today I read about some turtles nesting in Costa Rica.

This is how the trip ashore of the Olive Ridley Turtles of the Ostional Wildlife Refuge should have looked. However, tourists managed to swarm the beach, where they touched the turtles, took flash pictures of them and stood on top of where they had recently laid eggs. 
The Olive Ridley Turtles are classified as vulnerable and, like many other marine species, is at threat from waste found in the ocean, as well as many other things like climate change. 

Caught in a drifting net

As these beautiful creatures are already endangered, it sickens me that tourists could so selfishly and mindlessly endanger them even more. 
For more information read this article, or visit the Ostional Wildife Refuge Facebook page. 
A petition has also been started here to encourage the government to make it illegal to sell the eggs of endangered turtles in the area. 

Emily Lauterpacht

Facts by Emily Lauterpacht

Over the last week or so, I have come across many strange and interesting facts, so have compiled a list of a few of my favourite.

Birds can't taste spicy food. 

There exists a species of worm known as the pigbutt worm or flying buttocks, which, as the name suggests, looks like a disembodied bottom. 

In 1984, Barry Marshall drank a petri dish of bacteria to prove that they caused stomach ulcers. He won the Nobel Prize in Medicine in 2005 for this research. 

By 2050, it is predicted that 99% of seabirds will have some plastic waste in them, due to the massive pollution problems caused by the "islands" of floating plastic.

Darwin's frogs keep their offspring safe in a very unusual way - the male keeps them in his vocal sac until they are fully developed, when he vomits them out. 

Scientists discovered about 1500 new bacteria species, in 2012, in human belly buttons. 

Tigers' paw prints are known as pug marks.

Polar Bear livers contain so much Vitamin A, that if a human ate one, they would die.

Northern Quolls are marsupials, but don't have a pouch.

Like many amphibians, the axolotl is able to regenerate limbs. Unusual though, it is also able to rebuild its jaw, spine and brain without any scarring.

The human pancreas produces bicarbonate, which is essentially baking soda. 


Emily Lauterpacht