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Catherine Carnovale

Catherine Carnovale

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Riding a Wave to a World Record (or two!)

Catching a wave is one thing, but imagine riding a single wave for over 17 kilometres. This is exactly what a team of Australian surfers have done, all in the name of a very important cause. James Cotton, Roger Gamble and Zig Van Sluys set out upon the Kampar River in Indonesia's Riau Province where the 'bono' tidal wave carried them to a world record for the longest wave surfed as a team - with a total of 37 kilometres tallied between the three. James Cotton, son of the late Dick Cotton - Human Variome Project founder, clocked up an incredible 17.2 km stretch, setting the individual world record of the longest wave surfed. The wave - which at certain points can reach to 3 meters high - must be seen to be believed, so we've included some photos to help paint the picture!

In addition to this remarkable effort, the three set themselves the ambitious task of raising $50,000 for the Human Variome Project, a cause close to their hearts, to help ensure that all information on genetic variation and its effect on human health can be collected, curated, interpreted and shared freely and openly. With the latest count at over $47,600 it is clear that nothing stands in the way of these determined individuals. The International Coordinating Office sends our heartiest congratulations and deepest thanks to the Team at World Record Surfing for a Cause - James, Roger and Zig - as well as all the sponsors, donators and supporters for their contribution to raising awareness and funds for the Human Variome Project.

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Get in Line at the DNA Bank

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, StahlLejeune, 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.

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When the "Publish or Perish" model does more harm than good

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.

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The Human Variome Project is pleased to announce the newest appointed members of the International Scientific Advisory Committee, Jordan Lerner-Ellis and Juergen Reichardt.

Jordan Lerner-Ellis is currently Head of Advanced Molecular Diagnostics at Toronto’s Mount Sinai Hospital. He holds the position of Assistant Professor in the University of Toronto’s Department of Laboratory Medicine and Pathobiology and is an Associate at the Ontario Institute for Cancer Research.

Juergen Reichardt is currently the Head of School, Pharmacy and Molecular Sciences at James Cook University. Furthermore, he serves as the Associate Dean Research in the Faculty of Medicine, Health and Molecular Sciences at James Cook University.

We are thrilled to welcome our new additions to the team and look forward to the advances that will stem from their contribution.