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Good morning and welcome. On behalf of The American Society of Human Genetics (ASHG), it is my great pleasure to introduce our colleague Gonçalo Rocha Abecasis as recipient (together with Mark Daly) of the 2014 Curt Stern Award.
The Stern Award is presented annually for outstanding research in human genetics in the first 10 years of a research career. The award honors the memory of Curt Stern, a German American geneticist. Stern was a remarkable scientist: he completed his PhD at age 21, was the first to demonstrate physical crossover of homologous chromosomes in Drosophila, carried out important research on low-dose radiation safety, and wrote an influential human genetics textbook on which many of us grew up.
Gonçalo Abecasis is another remarkable scientist. He was born in Portugal, grew up in Macau—explaining his penchant for probability—and did his graduate training with Lon Cardon and Bill Cookson at Oxford University in the UK.
I first met Gonçalo at the 2000 ASHG meeting in Philadelphia when he was still a graduate student. I was looking to hire a junior faculty member, and Lon Cardon encouraged us to meet. As Gonçalo described his dissertation research to me—an efficient method for evaluating probabilities for genetic data in families—I knew in 2 min that the method he was describing was impossible. It took me 5 more min to decide it was not only possible but also a major advance in the field. I recovered quickly enough to recruit Gonçalo to our faculty in biostatistics at Michigan, where he rose quickly through the ranks and was promoted to professor in 2009 at the age of 33.
Gonçalo is that rare individual who is able to identify the essential problems facing our field and to devise ideal solutions. He has made fundamental contributions to complex-disease genetics, including family studies, quantitative-trait mapping, association analysis, and sequence analysis. In each of these areas, he has developed statistically rigorous and computationally efficient methods and computer programs that are now standard tools used by thousands of geneticists worldwide.
Gonçalo’s work in genotype imputation particularly stands out. Genotype imputation uses the insight that all of us are related and that some of us detectably share segments of our genomes. Imputation uses this fact to infer genotypes at a dense set of genetic variants in individuals in whom only a sparse set of variants are experimentally genotyped (for example, in a genome-wide association study [GWAS]) by taking advantage of the dense set of genotypes available on a reference set (for example, from the HapMap Project or 1000 Genomes Project). The result is that by genotyping hundreds of thousands of variants, one can infer the genotypes at (tens of) millions of variants. These imputed genotype data, which cost nothing but computer time, provide better genome coverage and increased power to detect disease associations and have been fundamental to the success of modern GWASs and sequencing studies.
In addition to performing methods work, Gonçalo has a keen interest in understanding the genetic basis of health and disease. He is a leader in studies that have identified hundreds of loci for macular degeneration, asthma, psoriasis, type 2 diabetes, and lipid levels and played a leading role in the 1000 Genomes Project. Currently, he is a leader of the Haplotype Reference Consortium, which is bringing together whole-genome sequence data to create an improved human reference assembly.
Gonçalo is an outstanding communicator, a wonderful collaborator, a gifted teacher, and a generous mentor. He has trained 20 doctoral students and postdoctoral fellows, who have taken important positions in academia and industry.
Gonçalo has received numerous awards: a Pew Biomedical Sciences Scholarship, the Overton Prize from the International Society for Computational Biology, repeat membership on the annual Thomson Reuters list of the world’s ten most frequently cited scientists, and most recently, membership in the Institute of Medicine of the National Academy of Sciences.
Gonçalo Abecasis is a remarkable scientist who has already made fundamental contributions to human genetics and who will make many more in the future. Please join the ASHG and me in congratulating Gonçalo for his contributions to human genetics and as co-recipient of the 2014 Curt Stern Award.