Sunday, February 28, 2010

King Tut and Genomics

I wrote in The Future of Medicine- Megatrends in Healthcare that genomics was a revolutionary new technology in medicine and that it would lead to disruptive new megatrends in medical care. I was thinking about new approaches to disease prediction, developing targeted drugs, directing the approach to drug prescribing to assure efficacy yet few side effects, and rapid diagnosis.

Many of us enjoy genealogy as a hobby and to learn about our ancestors. Genomics can been used to study our own genealogy – where did we come from and when? At a recent conference the lady sitting next to me told the group that she and her husband had just had their ancient genealogy studied by DNA analysis. In brief, her ancestors began in the north east of Africa, crossed over to the Middle East, then up into the north of the European continent and finally moved westward to Ireland and then to America. Her husband’s ancestors came from Egypt thousands of years ago, moved into the Middle East, then into central Asia and finally to southeastern Europe before immigrating to America. They and their children really appreciated and enjoyed learning about these origins and migrations over the millennia. And it was possible all because of the development of genomic analyses.

Now a group of Egyptologists has used genomic information along with CT scanning to study the ancestry and diseases found in King Tutankhamun and his family. King Tut, as he is often called, lived during the 18th Dynasty of the New Kingdom and died in about 1324 BC after a nine year reign. He followed his father, Akhenaten, who was controversial for his efforts to make major religious change in Egyptian society.

The researchers were able to construct a five generation pedigree. Among the findings – his parents were brother and sister children of Amenhotep III. It was possible to determine which mummy was his grandmother, Nefertiti, and which his father, Akhenaten. Thus these and other previously unidentified mummies can now be given their known names.

King Tut and his father pharaoh Akhenaten were often depicted as markedly feminized in statues and drawings. Did that mean that they had gynecomastia or some other feminizing disease? The genomic and CT skeletal results ruled out many such diseases such as Marfans or Antley-Bixler syndrome. Presumably this was an artistic presentation related to the new religious reforms started by Akhenaten. Other findings on CT scans of the mummies were that King Tut had cleft palate, a mild clubfoot, left foot bone necrosis and a leg fracture. His foot abnormalities on the left forced him to put more weight on the right and probably he had to use a cane. Others in his family tree had cleft palate, scoliosis, club feet and many had dental caries. One mummy had suggestion of metastatic cancer and a few had evidence of trauma – arrow wound to chest, traumatized face and skull. The biopsied materials studied by genomic analysis also identified malaria in King Tut and other mummies, representing the earliest proof of malaria infection to date, some 3300 years ago.

The authors of the article [JAMA, Feb 17, 2010, p638-646 and also a recent program on the Discovery Channel] suggest that a new scientific discipline may be emerging – molecular Egyptology, combining many fields of study including natural and life sciences, humanities, and medicine. For me it is another example of the incredible opportunities developing as we learn more about the use of genomic analyses.

Praise for Dr Schimpff

The craft of science writing requires skills that are arguably the most underestimated and misunderstood in the media world. Dumbing down all too often gets mistaken for clarity. Showmanship frequently masks a poor presentation of scientific issues. Factoids are paraded in lieu of ideas. Answers are marketed at the expense of searching questions. By contrast, Steve Schimpff provides a fine combination of enlightenment and reading satisfaction. As a medical scientist he brings his readers encyclopedic knowledge of his subject. As a teacher and as a medical ambassador to other disciplines he's learned how to explain medical breakthroughs without unnecessary jargon. As an advisor to policymakers he's acquired the knack of cutting directly to the practical effects, showing how advances in medical science affect the big lifestyle and economic questions that concern us all. But Schimpff's greatest strength as a writer is that he's a physician through and through, caring above all for the person. His engaging conversational style, insights and fascinating treasury of cutting-edge information leave both lay readers and medical professionals turning his pages. In his hands the impact of new medical technologies and discoveries becomes an engrossing story about what lies ahead for us in the 21st century: as healthy people, as patients of all ages, as children, as parents, as taxpayers, as both consumers and providers of health services. There can be few greater stories than the adventure of what awaits our minds, bodies, budgets, lifespans and societies as new technologies change our world. Schimpff tells it with passion, vision, sweep, intelligence and an urgency that none of us can ignore.

-- N.J. Slabbert, science writer, co-author of Innovation, The Key to Prosperity: Technology & America's Role in the 21st Century Global Economy (with Aris Melissaratos, director of technology enterprise at the John Hopkins University).