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ASHG Announces 2012 Award Recipients

 

 

The American Society of Human Genetics (ASHG) would like to congratulate the 2012 recipients of the Society’s four prestigious prizes in human genetics – the William Allan Award, the Curt Stern Award, the McKusick Leadership Award, and the ASHG Award for Excellence in Human Genetics Education.

 

The 2012 ASHG Awards will be presented to this year’s recipients at the 62nd ASHG Annual Meeting in San Francisco, California, November 6-10, 2012. Descriptions of this year’s honorees are included below:

William Allan Award
Curt Stern Award
Victor A. McKusick Leadership Award
Excellence in Human Genetics Education Award

 

William Allan Award

Uta Francke, M.D.

The American Society of Human Genetics (ASHG) has named Uta Francke, M.D., as the 2012 recipient of the annual William Allan Award, which recognizes a scientist for substantial and far-reaching scientific contributions to human genetics. Dr. Francke, Professor Emeritus in Genetics and Professor of Pediatrics at Stanford University, was ASHG’s president in 1999.

 

Dr. Francke will deliver her William Allan Award presentation on Nov. 9 during ASHG’s 2012 annual meeting at the Moscone Center in San Francisco.

 

“Dr. Francke is one of the most respected scientists in our genetics community,” said ASHG Executive Vice President Joann Boughman, Ph.D. “She has provided a stellar example of a tireless scientist, always seeking answers to any question that she becomes interested in, and pursing a variety of research techniques that will advance the knowledge in that particular subject. She is an outstanding citizen and member of ASHG.”

 

Dr. Francke demonstrated the value of using chromosomal analyses, molecular studies, and mouse models to advance the understanding and treatment of such human genetic diseases as Charcot-Marie-Tooth, Marfan, Rett, Prader-Willi, Williams and Wiskott-Aldrich syndromes.
 

The award recognizes her seminal work in the field, which began in the early days of medical and human genetics and includes over 500 peer-reviewed publications.
 

“In essence, her lifetime of scientific discoveries and numerous contributions over the decades have been far-reaching and have made a significant impact on advancing both basic and clinical human genetics,” said Dr. Boughman.
 

The Allan Award was established in 1961 in memory of William Allan, M.D., one of the first American physicians to conduct extensive research on human genetics and hereditary diseases. ASHG recognizes the significant achievements of the awardee by presenting the recipient with a cash prize and an engraved medal during the ASHG annual meeting.

 

Press Release [PDF]

Presentation

Past Winners

 

Curt Stern Award

Jay Shendure, M.D., Ph.D.

The American Society of Human Genetics (ASHG) has named Jay Shendure, M.D., Ph.D., Associate Professor in the Department of Genome Sciences at the University of Washington as the 2012 recipient of the Curt Stern Award, which will be presented on Nov. 10, during the ASHG annual meeting at the Moscone Center in San Francisco.

 

This award, named in honor of the pioneering geneticist Curt Stern, Ph.D., is presented annually to recognize outstanding scientific achievements occurring in the last decade.

 

“Dr. Shendure was selected for his outstanding contributions below. This work has had a truly revolutionary effect on human genetics.” said ASHG Executive Vice President Joann Boughman, Ph.D.


This work has been – and will continue to be – of great impact to human genetics research and the discovery of genes contributing to the development of high-throughput sequencing and its application to exomes and functional studies of non-coding DNA disease.  “Importantly, Dr. Shendure’s achievements have permitted individual, particularly small, clinical and laboratory groups to make important contributions to our understanding of disease,” Dr. Boughman added.
 

Dr. Shendure’s latest accomplishment was using a blood sample from a pregnant woman and saliva from the father to determine the genetic makeup of her fetus.  Using cell-free DNA methods, he and his colleagues laid the groundwork for comprehensive pre-natal diagnostic testing that will be less invasive than current methods.


“Dr. Shendure is one of the most notable young scientists in our genetics community,” said Dr. Boughman. “He will certainly continue to lead the way in developing techniques that will have great impact on patients.  Dr. Shendure is the quintessential physician-scientist.”

 

“It's just not possible to express how honored I am to receive this award and in particular to join the company of the others who have received the Curt Stern Award,” Dr. Shendure said. “I look forward to accepting the award at the ASHG meeting in San Francisco.”

 

Press Release [PDF]

Presentation

Past Winners

 

Victor A. McKusick Leadership Award

Francis Collins, M.D., Ph.D.

The American Society of Human Genetics (ASHG) has named Francis Collins, M.D., Ph.D., Director of the National Institutes of Health, as the recipient of the 2012 Victor A. McKusick Leadership Award. Dr. Collins, the sixth recipient of the award, will be honored at the ASHG 62nd annual meeting on Saturday, Nov. 10, at the Moscone Convention Center in San Francisco.

 

This award, named in honor of the late Dr. Victor A. McKusick, recognizes individuals whose professional achievements have fostered and enriched the development of human genetics. “Recipients exemplify the enduring leadership and vision required to ensure that the field of human genetics will flourish and successfully assimilate into the broader context of science, medicine, and health, while also making major contributions to awareness or understanding of human genetics by policy makers or by the general public,” said Joann Boughman, Ph.D., Executive Vice President of ASHG.

 

Dr. Collins was selected for the 2012 award because of his extensive achievements in genetics research, his efforts to advance health science and technology through policy and education, and his stellar leadership of the genetics community in mapping the human genome. “The revolution that was dreamed of at the start of the Human Genome project is currently being realized,” Boughman said. “Today’s medical geneticists, genetic counselors, and other health professionals are increasingly able to identify genes associated with both single-gene and complex diseases.”

These medical and scientific advances would not have been possible without Dr. Collin’s leadership and dedication to studying the molecular genetics of diseases for the benefit of health and medicine, she added.

 

Prior to his current position, Dr. Collins was the Director of the National Human Genome Research Institute and steered the NIH-based Human Genome Project to completion. Before joining NIH, Dr. Collins had already contributed to human genetics by helping to identify the gene for cystic fibrosis in 1989, the gene for neurofibromatosis in 1990, and the gene for Huntington’s disease in 1993.

 

His current laboratory, located at NIH, focuses on the function of genes involved in breast cancer, diabetes, Hutchinson-Gilford progeria syndrome, and many other conditions. In 2008, Dr. Collins stepped down from the NHGRI, and less than a year later, he was chosen by President Obama to serve as the Director of the National Institutes of Health.

 

Dr. Collins has received many awards for his achievements including the Presidential Medal of Freedom in November 2007 and the National Medal of Science in 2009.  In addition, he was elected to the Institute of Medicine and the National Academy of Sciences.

 

His education and outreach efforts include the creation of clinical partnerships with four historically African-American colleges and universities to develop clinical research degrees and conduct treatment trials involving minority patients.

 

He also established the National Center for Advancing Translational Sciences to enhance the process of translating scientific discoveries into new drugs, diagnostics, and medical devices.

 

“Dr. Collins is certainly deserving of this award, which ASHG considers its highest honor for leader-scientists,” said Dr. Boughman.  “He will forever be remembered for being on the forefront of what will be considered the most important biological advance of the century,”

 

Press Release [PDF]

Presentation

Past Winners

 

Excellence in Human Genetics Education Award

Alan Emery, M.D., Ph.D.

The American Society of Human Genetics (ASHG) has named Emeritus Professor Alan E. H. Emery, M.D., Ph.D., as the winner of the Award for Excellence in Human Genetics Education. The award will be presented to Dr. Emery on Saturday, Nov. 10, at ASHG 62nd annual meeting at the Moscone Center in San Francisco.

 

“I am greatly honored and delighted to be the recipient of this award,” Prof. Emery said. “To win this award means a great deal to me.”

 

“Prof. Emery has been one of the most prolific authors of important genetics texts in the world,” ASHG Executive Vice President Joann Boughman, Ph.D.  “One of his textbooks has been republished in 12 editions and translated into seven languages. For many in the field of human genetics, he is simply known as ’the expert‘. He is also a most gracious gentleman.”

 

The ASHG award recognizes an individual for contributions of exceptional quality and great importance to human genetics internationally. Awardees have had long-standing involvement in genetics education, contributions in more than one area, and contributions of substantive influence on individuals and/or organizations.

 

Prof. Emery is being recognized for his distinguished work in education through lecturing, mentoring, establishment of programs, and his writings, which include over 300 peer-reviewed articles and 26 books on all aspects of human and medical genetics.  Prof. Emery, also a poet, has authored books on medical genetics, prenatal diagnosis, genetic counseling, statistics, molecular, and historical perspectives. He also has written extensively on neuromuscular disease. His genetics texts including Elements of Medical Genetics (general), Methodology in Medical Genetics (statistics), and Principles and Practice of Medical Genetics with David Rimoin (medical), remain among the most important texts in their fields.  Prof. Emery was also the first to describe a form of muscular dystrophy now referred to as Emery-Dreifuss Muscular Dystrophy (EDMD or EMD) and the defective protein Emerin is named after him.

 

Prof. Emery is an honorary fellow or fellow in 10 societies, including the Royal Society of Medicine and the Royal Society of Arts.   He has also received many awards, including the Lifetime Achievement Award from the World Federation of Neurology and the Cockcroft Medal from the University of Manchester.

 

Press Release [PDF]

Presentation

Past Winners

 

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