Marfan syndrome dating
Just as it did with Lincoln, the programme allows a computer to scour family snaps for facial features characteristics of condition’s such as Down’s syndrome, Angelman syndrome, or Progeria.Between 30 and 40 per cent of rare genetic disorders are thought to involve changes in the shape of the face and skull.Four years ago, when Torrens was 23, she was rushed into emergency open-heart surgery to repair her aorta after it ruptured. Today, she lives with an artificial heart valve and takes blood thinners.She learned when she was 6 that the disorder ran in her family, on her father’s side.Researchers in the US have identified a gene linked with Marfan syndrome, a disease that affects 40 000 people in the US and some 6000 in Britain.Evidence from separate teams leaves little doubt that the syndrome is caused by defects in fibrillin, a protein in connective tissue.A common symptom that is life-threatening if it goes undiagnosed is a congenital weakness of the aorta, the main vessel leaving the heart. Last year, researchers led by David Hollister at the University of Nebraska found defective fibrillin in people with the disease but could not prove a link.After Hollister died in February this year, his colleague Francesco Ramirez continued the work with his team at Mount Sinai School of Medicine, New York.
In studies of families with the disorder, he found a tight linkage between the gene and the syndrome (Nature, vol 352, p 330).
Scientists at Oxford University have developed a computer algorithm that measures tiny variations in the distances between facial features and can spot abnormalities which signal underlying conditions.
Researchers at Oxford hope that the new face-recognition software could similarly diagnose rare genetic conditions in children from family photographs.
By analysing the role played by the normal protein in the tissue, researchers aim to discover how its abnormal form causes symptoms of disease.
People with Marfan syndrome have a wide variety of problems, including eyesight defects, heart disease and abnormally long limb bones.