2005 Judson Daland Prize
Brendan Lee of Baylor College of Medicine for his work in "skeletal genetics and inborn errors of metabolism."
Dr. Lee has been a pioneer in the discovery of basic DNA defects in skeletal disorders. He discovered the first such defect in a form of chondrodystrophy: a defect in type II collagen in spondyloepiphyseal dysplasia. Other work has involved a form of Ehlers-Danlos syndrome and Marfan syndrome. His work in genetic metabolic disorders (the so-called urea cycle disorders) has been useful in their diagnosis and treatment.
Dr. Lee was the first to identify mutations causing achondrodysplasia and one of the first to associate the fibrillin gene with Marfan syndrome. He also was first to demonstrate mutations causing cleidocranial dysplasia and nail-patella syndrome. He developed stabilized isotope methods from measuring ureagenesis for diagnosis and management urea cycle disorders.
James A. Levine of the Mayo Clinic for his work on "energy expenditure and obesity."
Dr. Levine has elucidated the physiologic basis for the individual variation in susceptibility to weight gain in response to overeating. From observations in non-obese volunteers overfed in excess of weight-maintenance requirements, he found a 10-fold difference in fat storage. Two-thirds of the rise in total daily energy expenditure was due to increased non-exercise activity thermogenesis (NEAT), which is associated with fidgeting, maintenance of posture, and other physical activities of daily life. Changes in NEAT accounted for the 10-fold differences in fat storage and directly predicted resistance to fat gain with overfeeding. The results were interpreted as indicating that as humans overeat, activation of NEAT dissipates excess energy to preserve leanness and a failure to active NEAT may result in fat gain.
Studies quantitating differences in "posture allocation" (fidgeting and so on) indicated that obese individuals were seated, on average, two hours longer per day then lean individuals. Dr. Levine estimated that the NEAT-enhanced behaviors of the lean subjects resulted in their expending an additional 350 calories per day. Posture allocation did not change when the obese individuals lost weight or when the lean individuals gained weight, suggesting that it is biologically determined.