ROCKVILLE, MD - The American Society of Human Genetics (ASHG) has named Stylianos E. Antonarakis, MD, DSc, professor and chairman of Genetic Medicine emeritus at the University of Geneva Medical School, the 2019 recipient of the annual William Allan Award.
The Allan Award, which recognizes substantial and far-reaching scientific contributions to human genetics, was established in 1961 in memory of William Allan, MD (1881-1943), one of the first American physicians to conduct extensive research on human genetics and hereditary diseases. Dr. Antonarakis will receive his award, which will include an engraved medal and $25,000 prize, on Tuesday, October 15, during ASHG's 69th Annual Meeting in Houston, Texas. He will present his William Allan Award address immediately thereafter.
Dr. Antonarakis' life's work revolves around understanding the human genome and the relation of its variation with the numerous mendelian and polygenic, complex disorders. "His career has mirrored the progress in human genetics over the past 38 years," said Haig H. Kazazian, Jr, MD, Johns Hopkins University School of Medicine, in his nomination letter.
Dr. Antonarakis is a medical, molecular, and human geneticist, and a physician-scientist. He has extensively studied the relationship between genomic and phenotypic variation. His contributions to the field are focused on the genetic basis of Mendelian and complex genetic disease, chromosome 21 biology and Down syndrome, and the genetic factors underlying variation in gene expression and regulation. His work was done on both sides of the Atlantic, namely in Baltimore and Geneva. "This well-deserved honor by ASHG makes all of us former trainees and colleagues of Stylianos very proud, and highlights his exceptional contributions to Swiss, European, and international science," said Emmanouil Dermitzakis, professor in the Department of Genetic Medicine and Development at the University of Geneva.
Early in his career, Dr. Antonarakis worked on hemoglobin disorders, which led to connections between mutations and clinical traits. His lab contributed to the elucidation of the molecular basis of thalassemia, hemophilia A and several other monogenic disorders. This work also provided evidence for the application of prenatal molecular testing in the clinic and illustrated the importance of the CpG mutational hotspot for single nucleotide variation. Dr. Antonarakis' work has had a direct and positive impact on the clinic.
With a strong commitment to understanding the genetics of Down syndrome, Dr. Antonarakis was among the first to show that the disease was largely caused by problematic crossing over between chromosomes during meiosis phase I, during the production of the mother's egg cells. Dr. Antonarakis led the effort to sequence and characterize chromosome 21 more broadly to get a compressive and accurate genome assembly, allowing him to more fully grasp the genetics of Down syndrome and other chromosome 21 disorders, by studying the transcriptome, proteome, chromatin function and single cell expression in Down syndrome. His lab also studied the contribution of the noncoding sequences of the human genome to disease phenotypes, since the coding sequences only account for less than 2% of the genome. He is currently identifying and characterizing genetic variation causing autosomal recessive disorders, by studying consanguineous populations from Pakistan in the Swiss-Pakistani project.
Dr. Antonarakis has trained over 80 young scientists in his lab, and has developed a major clinical and laboratory center in Geneva, Switzerland. He has published more than 700 papers and reviews and is the co-editor of the textbook Genetics in Medicine. Among many accomplishments, Dr. Antonarakis served as the president of the European Society of Human Genetics (2001-02), and the Human Genome Organization (HUGO 2012-2017), was awarded the Society of Pediatric Research Young Investigator Award (1984), was elected a member of the Swiss Academy for Medical Sciences, and originated the World Down Syndrome Day. A longtime ASHG member, he also served on the Board of Directors (2011-13), and the Nominating Committee (1991-92, 2008).