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Scientific Advisory Board


 

 

 

 Angelika Amon, PhD

Dr. Amon is a geneticist and cell biologist, an HHMI investigator, and professor at MIT. She received her B.S. and Ph.D. from the University of Vienna. She completed a two-year post-doctoral fellowship at the Whitehead Institute and was subsequently named a Whitehead Fellow for three years. In 1999, she joined the MIT Koch Institute for Integrative Cancer Research and the Department of Biology. Dr. Amon has won several awards for her innovative research including the Presidential Early Career Award for Scientists and Engineers, the Eli Lilly and Company Award, the Alan T. Waterman Award, the Paul Marks Prize for Cancer Research, , the Ernst Jung Prize for Medicine, and the National Academy of Sciences Award in Molecular Biology. In 2010 Dr. Amon was elected to the National Academy of Sciences.
 
The goal of Dr. Amon’s research is to obtain a detailed molecular understanding of the regulatory circuits that control chromosome segregation and what happens to cells in which these mechanisms fail and hence become aneuploid. She uses the budding yeast S. cerevisiae as a model system to study chromosome segregation and the effects of aneuploidy on cell physiology, and probes discoveries made in yeast in the mouse and humans.
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 Tom Blumenthal, PhD, Executive Director

Tom Blumenthal received his PhD in Genetics from Johns Hopkins University in 1970, where he worked on bacterial viruses. He was a Whitney Foundation postdoctoral fellow with James Watson at Harvard, where he discovered that a viral replication envyme contains proteins evolved to perform completely different roles for their host bacteria:  protein synthesis elongation. In 1973, he became an Assistant Professor at Indiana University, where he remained until 1996, rising through the ranks to Professor and Chairman of Biological Sciences. In 1980, as a Guggenheim fellow, he did a sabbatical with Sydney Brenner at the Laboratory of Molecular Biology in Cambridge, where he began work on the nematode worm, C. elegans. He studied developmental gene regulation and later began his most well-known work on mechanisms of mRNA processing and chromosomal gene organization. His laboratory is credited with the first discovery of operons in higher organisms. In 1993 he did a sabbatical with Barbara Meyer in Berkeley where he expanded his work on C. elegans mRNA processing. In 1997, he moved to the University of Colorado School of Medicine as Chairman of Biochemistry and Molecular Genetics. In 2006, he moved to the University of Colorado Boulder as Chairman of Molecular, Cellular, and Developmental Biology. He is an elected fellow of the American Academy of Arts and Sciences. He assumed his current position as Executive Director of the Linda Crnic Institute for Down Syndrome in 2012.  He holds the Anna and John J. Sie Chair in Genomics in the Department of Biochemistry and Molecular Genetics, and also remains a Professor in Molecular, Cellular and Developmental Biology at the University of Colorado Boulder.2

 Thomas R. Cech, PhD

Director of the Colorado Initiative for Molecular Biotechnology; Distinguished Professor, University of Colorado-Boulder Investigator of the Howard Hughes Medical Institute Nobel Laureate Tom Cech has been on the faculty of the University of Colorado, Boulder since 1978 and holds a joint appointment at the Anschutz Medical School. In 2000, he was named president of the Howard Hughes Medical Institute and remained in this position until 2009. Currently, his lab at the University of Colorado, Boulder investigates the structure and replication of telomeric DNA. Cech shared the 1989 Nobel Prize in Chemistry for his discovery of catalytic RNA. In addition to this award, Cech has won a number of other international awards and prizes, including the Heineken Prize of the Royal Netherlands Academy of Sciences (1988), the Albert Lasker Basic Medical Research Award (1988) and the National Medal of Science (1995). Cech has been elected to the U.S. National Academy of Sciences and the Institute of Medicine and also was awarded a lifetime professorship by the American Cancer Society. 3

 Larry Gold, PhD

Chairman, Founder, and CEO of SomaLogic
Founder of NeXstar and Synergen
Dr. Larry Gold is the founder, Chairman of the Board, and Chief Executive Officer of SomaLogic. During career, Dr. Gold has received many citations including the CU Distinguished Lectureship Award, the National Institutes of Health Merit Award, the Career Development Award, and the Chiron Prize for Biotechnology. In addition, Dr. Gold has been a member of the American Academy of Arts and Sciences since 1993 and the National Academy of Sciences since 1995.
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 Jeanne Lawrence, PhD

Jeanne Lawrence is an internationally recognized leader in the field of epigenetics, chromosome regulation, and non-coding RNAs, whose work reflects her inter-disciplinary background in developmental biology and clinical genetics. She is currently Professor and Interim Chair of the Department of Cell and Developmental Biology at the University of Massachusetts Medical School.    After receiving a B.A. in Biology and Music from Stephens College, she earned her M.S. in Human Genetics and Counseling from Rutgers University and a Ph.D. in Developmental Biology from Brown University. 
 
Dr. Lawrence’s work bridges fundamental questions in epi-genome biology with human clinical genetics, as she is interested in translating basic science discovery to problems that impact people, particularly Down Syndrome.   In her earlier work, she received awards and patents for the development of single-copy gene and nuclear RNA FISH (fluorescence in situ hybridization) technology, which made possible the investigation of gene and RNA organization directly within cell nuclei.  This allowed her lab to first show that RNA from the X-linked XIST gene is expressed exclusively from and “coats” the inactive X-chromosome in female cells, where this novel RNA induces heterochromatin modifications which silence transcription across the chromosome.  These studies were key to establishing the precedent that a large “non-coding” RNA (XIST RNA) could function itself as a regulator of chromatin.  XIST now remains the preeminent paradigm for ncRNA regulation of the epigenome.
 
Most recently, her lab has demonstrated that the large XIST gene could be accurately targeted into one extra chromosome 21 in iPS cells from a Down syndrome patient.  Most importantly, the RNA effectively silenced expression of genes across the extra chromosome 21.  This novel approach now provides several new avenues for translational research into human Down Syndrome cell pathology in vitro, and opens the longer-term possibility of “chromosome therapy” in vivo for aspects of trisomy 21 (and other trisomys).  Dr. Lawrence’s lab is currently working to demonstrate feasibility that XIST- mediated silencing of a trisomic chromosome can correct or mitigate pathology in mouse models of DS, and is also the engineered human DS pluripotent stem cells as a correctable “disease-in-a-dish”, to understand cellular differences that underlie various aspects of Down Syndrome.
 
Dr. Lawrence has been honored for development of highly sensitive FISH technologies now used round the world and has received awards from the National Center for Human Genome Research, American Society of Cell Biology, German Society for Biochemistry, Muscular Dystrophy Association, Charles H. Hood Foundation and the John Merck Fund.  She has served on the NIH Advisory Council for Human Genome Research, numerous NIH review panels, and currently serves as as monitoring editor for the Journal of Cell Biology.
 
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 Leslie Leinwand, PhD

Dr. Leinwand is a Molecular, Cellular, and Developmental Biology (MCDB) Professor and Director of the Colorado Initiative in Molecular Biotechnology at the University of Colorado, Boulder. She was recruited to be Chair of MCDB in 1995. She received her Bachelor’s degree from Cornell University, her PhD from Yale University and did post-doctoral training at Rockefeller University. She joined the faculty at Albert Einstein College of Medicine in New York in 1981 and remained there until moving to Colorado. While at Albert Einstein she became a Full Professor and was Director of the Cardiovascular Research Center. Once moved to Colorado, along with Michael Bristow, she founded the intercampus University of Colorado Cardiovascular Institute which promotes research and training in cardiovascular disease. They, along with Eric Olson at the University of Texas, Southwestern Medical Center, founded Myogen, Inc. which was recently sold to Gilead Pharmaceuticals. More recently, she was a co-founder of Hiberna, Inc, a biotechnology company using pythons and hibernating ground squirrels to develop novel pharmaceuticals. Her work as a cardiac biologist is of importance to both basic scientists and clinicians. The interests of Dr. Leinwand’s laboratory are the genetics and molecular physiology of inherited diseases of the heart and how gender and diet modify the heart. The study of these diseases has required multidisciplinary approaches, involving molecular biology, mouse genetics, mouse cardiac physiology, and the analysis of human tissues. To accomplish this, Dr. Leinwand has developed a highly collaborative group in Boulder, bringing together specialized basic scientists and clinical cardiologists. Her laboratory’s efforts are well-funded by multiple grants from the National Institutes of Health and her teaching is recognized by funding from the Howard Hughes Medical Institute’s Professor Program. She is also the Principle Investigator of the HHMI program called the Biological Sciences Initiative which supports undergraduate research, K-12 outreach and educational programs for high school teachers. Leslie served as the interim Director of the Linda Crnic Institute for Down Syndrome until the appointment of its first fulltime executive director.5

 Roger Reeves, PhD

Professor Department of Physiology Johns Hopkins University School of Medicine
Dr. Roger Reeves is Professor in the Department of Physiology and a Core Faculty Member of the McKusick-Nathans Institute of Genetic Medicine at the Johns Hopkins University School of Medicine. He earned his B.S. from Bowling Green State University in Ohio and his Ph.D. at University of Maryland, doing his thesis research at the National Cancer Institute. He began working on gene expression in Down syndrome early in his career. Recent work includes human genetic studies to identify genetic modifiers that contribute to a more or less severe presentation of Down syndrome. His laboratory is studying a possible therapeutic approach for Down syndrome features. He recently demonstrated the basis for the reduced frequency of solid tumors in people with trisomy 21. He dirests the Down Syndrome Cognition Project, a multi-site effort to employ the Arizona Cognitive Test Battery in conjunction with genetic analysis to identify genetic contributors to variable cognitive ability in DS. The DSCP network and ACTB provide a structure to recruit volunteers and monitor effectiveness of drugs designed to ameliorate cognitive dysfunction specific to people who have trisomy 21.
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