In the same year that Vernon Ingram first showed us that changes to a single amino acid in a protein can cause disease or disorder in humans, Johan den Dunnen was born. Growing up in a time when scientific advances in the realm of human genetics were on rapid fire (do the names Meselson, Stahl, Lejeune, Guthrie and Nirenberg ring a bell?), he was inspired to study biology. Johan went on to complete his PhD in the Netherlands examining the evolution of eye-lens crystallin genes, before his research took him toward the area of genetic disease - specifically Duchenne muscular dystrophy.
As well as being an academic (currently a Professor of Medical Genome Technology at Leiden University Medical Centre), Johan, is part of another group within the community. The group boasts members such as Ozzy Osbourne, Elvis Presley, Larry King, and Glenn Close.
What they have in common (unfortunately we're not announcing a supergroup to rival the Traveling Wilburys) is that they have all had their genome sequenced.
Since the completion of the Human Genome Project in 2003, a developing commercial market has allowed an increasing number of individuals to have their genome sequenced. While for James Watson - joint discoverer of DNA - it came at a cost of around $1 million dollars, but by the time Steve Jobs sought information about his own genome to aid his cancer treatment, the cost had fallen to around $100,000.
Today genetics is not just for the wealthy. Today individuals can have access to their own genomic blueprint for around $1,000 USD....
If you're an academic or on your way down a related path, the term "publish or perish" needs no further explanation. For those outside the circle, the pressure to generate multiple high quality research publications in rapid succession may not seem unusual. How else will the worldwide science community know what you are working on? What other channels exist to share interesting pieces of data or breakthrough results?
The flip side of the argument often points out that focussing on publication quantity has detrimental effects on publication quality. This side of the argument is fuelled by reports highlighting careless mistakes in scientific literature, low reproducibility rates in repeat experiments and extreme cases of academic misconduct and the falsification of results. While all of this sounds like a horror story for scientists to deal with, what are the real implications of these errors outside of the lab? A recently published article in the Atlantic outlined one such example in a disconcerting scenario encountered by Heidi Rehm.
In addition to her role on the International Scientific Advisory Committee for the Human Variome Project, Heidi Rehm is also the Chief Laboratory Director at Partners' Laboratory for Molecular Medicine and Associate Professor of Pathology at Brigham & Women's Hospital and Harvard Medical School. Rehm's position sees her routinely provide reports on patient samples sent to Partners Laboratory from healthcare professionals around the country.
The particular situation described by Heidi Rehm pertains to a foetal blood test which returned a result indicating a variant in PTPN11, a gene which can signify an increased risk of Noonan syndrome. Using the tools at her disposal, Heidi Rehm scoured the scientific literature, finding a paper which classified the specific variant as pathogenic and indeed likely to cause Noonan syndrome. Naturally, the report she returned detailed this finding.
Since the particular sample in question crossed Heidi Rehm's path, further research by a separate group uncovered a high prevalence of the PTPN11 variant among particular ethnic groups who show no sign of the genetic disease, resoundingly disproving the earlier classification of the variant as pathogenic. The original paper that Rehm referenced was wrong....