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Live Notes, Real Time Conference Coverage 2020 AACR Virtual Meeting April 28, 2020 Symposium: New Drugs on the Horizon Part 3 12:30-1:25 PM

Reporter: Stephen J. Williams, PhD

New Drugs on the Horizon: Part 3
Introduction

Andrew J. Phillips, C4 Therapeutics

  • symposium brought by AACR CICR and had about 30 proposals for talks and chose three talks
  • unfortunately the networking event is not possible but hope to see you soon in good health

ABBV-184: A novel survivin specific T cell receptor/CD3 bispecific therapeutic that targets both solid tumor and hematological malignancies

Edward B Reilly
AbbVie Inc. @abbvie

  • T-cell receptors (TCR) can recognize the intracellular targets whereas antibodies only recognize the 25% of potential extracellular targets
  • survivin is expressed in multiple cancers and correlates with poor survival and prognosis
  • CD3 bispecific TCR to survivn (Ab to CD3 on T- cells and TCR to survivin on cancer cells presented in MHC Class A3)
  • ABBV184  effective in vivo in lung cancer models as single agent;
  • in humanized mouse tumor models CD3/survivin bispecific can recruit T cells into solid tumors; multiple immune cells CD4 and CD8 positive T cells were found to infiltrate into tumor
  • therapeutic window as measured by cytokine release assays in tumor vs. normal cells very wide (>25 fold)
  • ABBV184 does not bind platelets and has good in vivo safety profile
  • First- in human dose determination trial: used in vitro cancer cell assays to determine 1st human dose
  • looking at AML and lung cancer indications
  • phase 1 trial is underway for safety and efficacy and determine phase 2 dose
  • survivin has very few mutations so they are not worried about a changing epitope of their target TCR peptide of choice

The discovery of TNO155: A first in class SHP2 inhibitor

Matthew J. LaMarche
Novartis @Novartis

  • SHP2 is an intracellular phosphatase that is upstream of MEK ERK pathway; has an SH2 domain and PTP domain
  • knockdown of SHP2 inhibits tumor growth and colony formation in soft agar
  • 55 TKIs there are very little phosphatase inhibitors; difficult to target the active catalytic site; inhibitors can be oxidized at the active site; so they tried to target the two domains and developed an allosteric inhibitor at binding site where three domains come together and stabilize it
  • they produced a number of chemical scaffolds that would bind and stabilize this allosteric site
  • block the redox reaction by blocking the cysteine in the binding site
  • lead compound had phototoxicity; used SAR analysis to improve affinity and reduce phototox effects
  • was very difficult to balance efficacy, binding properties, and tox by adjusting stuctures
  • TNO155 is their lead into trials
  • SHP2 expressed in T cells and they find good combo with I/O with uptick of CD8 cells
  • TNO155 is very selective no SHP1 inhibition; SHP2 can autoinhibit itself when three domains come together and stabilize; no cross reactivity with other phosphatases
  • they screened 1.5 million compounds and got low hit rate so that is why they needed to chemically engineer and improve on the classes they found as near hits

Closing Remarks

 

Xiaojing Wang
Genentech, Inc. @genentech

Follow on Twitter at:

@pharma_BI

@AACR

@CureCancerNow

@pharmanews

@BiotechWorld

@HopkinsMedicine

#AACR20

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A Compendium of Coronavirus Must Reads from AAAS journal Science

Curator: Stephen J. Williams, PhD

How does coronavirus kill? Clinicians trace a ferocious rampage through the body, from brain to toes

 

An invader’s impact

In serious cases, SARS-CoV-2 lands in the lungs and can do deep damage there. But the virus, or the body’s response to it, can injure many other organs. Scientists are just beginning to probe the scope and nature of that harm.
8256734WindpipeBile ductBronchiiImmune cellsCapillaryBlood vesselEndothelial cellACE2SARS-CoV-2SARS-CoV-2ClotMucus12 LiverUp to half of hospitalized patients have enzyme levels that signal a struggling liver. An immune system in overdrive and drugs given to fight the virus may be causing the damage.7 NoseSome patients lose their sense of smell. Scientists speculate that the virus may move up the nose’s nerve endings and damage cells.6 EyesConjunctivitis, inflammation of the membrane that lines the front of the eye and inner eyelid, is more common in the sickest patients.3 KidneysKidney damage is common in severe cases and makes death more likely. The virus may attack the kidneys directly, or kidney failure may be part of whole-body events like plummeting blood pressure.4 IntestinesPatient reports and biopsy data suggest the virus can infect the lower gastrointestinal tract, which is rich in ACE2 receptors. Some 20% or more of patients have diarrhea.1 LungsA cross section shows immune cells crowding an inflamed alveolus, whose walls break down during attack by the virus, diminishing oxygen uptake. Patients cough, fevers rise, and it takes more and more effort to breathe.8 Heart and blood vesselsThe virus (green) enters cells, likely including those lining blood vessels, by binding to ACE2 receptors on the cell surface. Infection can also promote blood clots, heart attacks, and cardiac inflammation.5 BrainSome COVID-19 patients have strokes, seizures, mental confusion, and brain inflammation. Doctors are trying to understand which are directly caused by the virus.
V. ALTOUNIAN/SCIENCE

Some clinicians suspect the driving force in many gravely ill patients’ downhill trajectories is a disastrous overreaction of the immune system known as a “cytokine storm,” which other viral infections are known to trigger. Cytokines are chemical signaling molecules that guide a healthy immune response; but in a cytokine storm, levels of certain cytokines soar far beyond what’s needed, and immune cells start to attack healthy tissues. Blood vessels leak, blood pressure drops, clots form, and catastrophic organ failure can ensue.

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AAAS Science Podcast: Why some diseases are seasonal and some are not: Coronaviruses and more

Reporter: Stephen J. Williams, PhD

 

The following podcast from the American Association for Advancement of Science (AAAS) discusses the seasonality of some viruses while other viruses are able to manifest themselves in different seasons over the globe.

Please Play

https://play.google.com/music/m/Da3pxbfyuykjy3r7xe5rprupmdq?t=Why_some_diseases_come_and_go_with_the_seasons_and_how_to_develop_smarter_safer_chemicals-Science_Ma

For more articles on COVID19 and SARS-CoV-2 on this Open Access Online Journal please see

Coronavirus SARS-CoV-2 Portal

 

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Diversity and Health Disparity Issues Need to be Addressed for GWAS and Precision Medicine Studies

Curator: Stephen J. Williams, PhD

 

 

From the POLICY FORUM ETHICS AND DIVERSITY Section of Science

Ethics of inclusion: Cultivate trust in precision medicine

 See all authors and affiliations

Science  07 Jun 2019:
Vol. 364, Issue 6444, pp. 941-942
DOI: 10.1126/science.aaw8299

Precision medicine is at a crossroads. Progress toward its central goal, to address persistent health inequities, will depend on enrolling populations in research that have been historically underrepresented, thus eliminating longstanding exclusions from such research (1). Yet the history of ethical violations related to protocols for inclusion in biomedical research, as well as the continued misuse of research results (such as white nationalists looking to genetic ancestry to support claims of racial superiority), continue to engender mistrust among these populations (2). For precision medicine research (PMR) to achieve its goal, all people must believe that there is value in providing information about themselves and their families, and that their participation will translate into equitable distribution of benefits. This requires an ethics of inclusion that considers what constitutes inclusive practices in PMR, what goals and values are being furthered through efforts to enhance diversity, and who participates in adjudicating these questions. The early stages of PMR offer a critical window in which to intervene before research practices and their consequences become locked in (3).

Initiatives such as the All of Us program have set out to collect and analyze health information and biological samples from millions of people (1). At the same time, questions of trust in biomedical research persist. For example, although the recent assertions of white nationalists were eventually denounced by the American Society of Human Genetics (4), the misuse of ancestry testing may have already undermined public trust in genetic research.

There are also infamous failures in research that included historically underrepresented groups, including practices of deceit, as in the Tuskegee Syphilis Study, or the misuse of samples, as with the Havasupai tribe (5). Many people who are being asked to give their data and samples for PMR must not only reconcile such past research abuses, but also weigh future risks of potential misuse of their data.

To help assuage these concerns, ongoing PMR studies should open themselves up to research, conducted by social scientists and ethicists, that examines how their approaches enhance diversity and inclusion. Empirical studies are needed to account for how diversity is conceptualized and how goals of inclusion are operationalized throughout the life course of PMR studies. This is not limited to selection and recruitment of populations but extends to efforts to engage participants and communities, through data collection and measurement, and interpretations and applications of study findings. A commitment to transparency is an important step toward cultivating public trust in PMR’s mission and practices.

From Inclusion to Inclusive

The lack of diverse representation in precision medicine and other biomedical research is a well-known problem. For example, rare genetic variants may be overlooked—or their association with common, complex diseases can be misinterpreted—as a result of sampling bias in genetics research (6). Concentrating research efforts on samples with largely European ancestry has limited the ability of scientists to make generalizable inferences about the relationships among genes, lifestyle, environmental exposures, and disease risks, and thereby threatens the equitable translation of PMR for broad public health benefit (7).

However, recruiting for diverse research participation alone is not enough. As with any push for “diversity,” related questions arise about how to describe, define, measure, compare, and explain inferred similarities and differences among individuals and groups (8). In the face of ambivalence about how to represent population variation, there is ample evidence that researchers resort to using definitions of diversity that are heterogeneous, inconsistent, and sometimes competing (9). Varying approaches are not inherently problematic; depending on the scientific question, some measures may be more theoretically justified than others and, in many cases, a combination of measures can be leveraged to offer greater insight (10). For example, studies have shown that American adults who do not self-identify as white report better mental and physical health if they think others perceive them as white (1112).

The benefit of using multiple measures of race and ancestry also extends to genetic studies. In a study of hypertension in Puerto Rico, not only did classifications based on skin color and socioeconomic status better predict blood pressure than genetic ancestry, the inclusion of these sociocultural measures also revealed an association between a genetic polymorphism and hypertension that was otherwise hidden (13). Thus, practices that allow for a diversity of measurement approaches, when accompanied by a commitment to transparency about the rationales for chosen approaches, are likely to benefit PMR research more than striving for a single gold standard that would apply across all studies. These definitional and measurement issues are not merely semantic. They also are socially consequential to broader perceptions of PMR research and the potential to achieve its goals of inclusion.

Study Practices, Improve Outcomes

Given the uncertainty and complexities of the current, early phase of PMR, the time is ripe for empirical studies that enable assessment and modulation of research practices and scientific priorities in light of their social and ethical implications. Studying ongoing scientific practices in real time can help to anticipate unintended consequences that would limit researchers’ ability to meet diversity recruitment goals, address both social and biological causes of health disparities, and distribute the benefits of PMR equitably. We suggest at least two areas for empirical attention and potential intervention.

First, we need to understand how “upstream” decisions about how to characterize study populations and exposures influence “downstream” research findings of what are deemed causal factors. For example, when precision medicine researchers rely on self-identification with U.S. Census categories to characterize race and ethnicity, this tends to circumscribe their investigation of potential gene-environment interactions that may affect health. The convenience and routine nature of Census categories seemed to lead scientists to infer that the reasons for differences among groups were self-evident and required no additional exploration (9). The ripple effects of initial study design decisions go beyond issues of recruitment to shape other facets of research across the life course of a project, from community engagement and the return of results to the interpretation of study findings for human health.

Second, PMR studies are situated within an ecosystem of funding agencies, regulatory bodies, disciplines, and other scholars. This partly explains the use of varied terminology, different conceptual understandings and interpretations of research questions, and heterogeneous goals for inclusion. It also makes it important to explore how expectations related to funding and regulation influence research definitions of diversity and benchmarks for inclusion.

For example, who defines a diverse study population, and how might those definitions vary across different institutional actors? Who determines the metrics that constitute successful inclusion, and why? Within a research consortium, how are expectations for data sharing and harmonization reconciled with individual studies’ goals for recruitment and analysis? In complex research fields that include multiple investigators, organizations, and agendas, how are heterogeneous, perhaps even competing, priorities negotiated? To date, no studies have addressed these questions or investigated how decisions facilitate, or compromise, goals of diversity and inclusion.

The life course of individual studies and the ecosystems in which they reside cannot be easily separated and therefore must be studied in parallel to understand how meanings of diversity are shaped and how goals of inclusion are pursued. Empirically “studying the studies” will also be instrumental in creating mechanisms for transparency about how PMR is conducted and how trade-offs among competing goals are resolved. Establishing open lines of inquiry that study upstream practices may allow researchers to anticipate and address downstream decisions about how results can be interpreted and should be communicated, with a particular eye toward the consequences for communities recruited to augment diversity. Understanding how scientists negotiate the challenges and barriers to achieving diversity that go beyond fulfilling recruitment numbers is a critical step toward promoting meaningful inclusion in PMR.

Transparent Reflection, Cultivation of Trust

Emerging research on public perceptions of PMR suggests that although there is general support, questions of trust loom large. What we learn from studies that examine on-the-ground approaches aimed at enhancing diversity and inclusion, and how the research community reflects and responds with improvements in practices as needed, will play a key role in building a culture of openness that is critical for cultivating public trust.

Cultivating long-term, trusting relationships with participants underrepresented in biomedical research has been linked to a broad range of research practices. Some of these include the willingness of researchers to (i) address the effect of history and experience on marginalized groups’ trust in researchers and clinicians; (ii) engage concerns about potential group harms and risks of stigmatization and discrimination; (iii) develop relationships with participants and communities that are characterized by transparency, clear communication, and mutual commitment; and (iv) integrate participants’ values and expectations of responsible oversight beyond initial informed consent (14). These findings underscore the importance of multidisciplinary teams that include social scientists, ethicists, and policy-makers, who can identify and help to implement practices that respect the histories and concerns of diverse publics.

A commitment to an ethics of inclusion begins with a recognition that risks from the misuse of genetic and biomedical research are unevenly distributed. History makes plain that a multitude of research practices ranging from unnecessarily limited study populations and taken-for-granted data collection procedures to analytic and interpretive missteps can unintentionally bolster claims of racial superiority or inferiority and provoke group harm (15). Sustained commitment to transparency about the goals, limits, and potential uses of research is key to further cultivating trust and building long-term research relationships with populations underrepresented in biomedical studies.

As calls for increasing diversity and inclusion in PMR grow, funding and organizational pathways must be developed that integrate empirical studies of scientific practices and their rationales to determine how goals of inclusion and equity are being addressed and to identify where reform is required. In-depth, multidisciplinary empirical investigations of how diversity is defined, operationalized, and implemented can provide important insights and lessons learned for guiding emerging science, and in so doing, meet our ethical obligations to ensure transparency and meaningful inclusion.

References and Notes

  1. C. P. Jones et al Ethn. Dis. 18496 (2008).
  2. C. C. GravleeA. L. NonC. J. Mulligan
  3. S. A. Kraft et al Am. J. Bioeth. 183 (2018).
  4. A. E. Shields et al Am. Psychol. 6077 (2005).

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Mobilizing Scientific Societies: Editorial by Science Editor-in-Chief Dr. Bruce Alberts

Reporter: Stephen J. Williams, Ph.D

In a weekly editorial, Dr. Bruce Alberts, Editor-in –Chief of the journal Science discussed issues pertaining to science education in the United States[1].  He suggests the US science education system may need to be more flexible in its approach to science education in grade and high school.  He considers the one major problem is the “broad coverage of each subject, which kills student interest and makes genuine comprehension impossible.  Dr. Alberts suggest that state-based textbooks and the inability of the scientific community to understand teacher’s needs is driving this inadvertent problem.  The current textbooks used for scientific education focus more on memorization of a multitude of scientific terms than on concept development, experimentation and inquisition, and conclusion.  Materials are desperately needed for teachers to guide students to confront the overall concept, and working in teams, design potential methods to further explore these concepts.  He suggest this style of teaching would require close partnerships between top-notch teachers , educational  experts and scientific societies in order to research the effect of current curriculum materials but also develop  new Web-based  curriculum.

In a recent interview in the March 2013 issue of Wired magazine with Clayton Christensen, Ph.D. the author of the famed book The innovator’s Dilemma,  Dr. Christensen forwqarns the impending changes in higher education due to increased availability of online learning.  As he states, universities are on the precipice of a collapse in the future and those which survive will evolve hybrid models of education, part online and part classroom but will provide more specialized offerings to fit current needs.  Indeed, as listed below these changes and suggestions in science education may well be underway.  Below is a brief listing of scientific societies who have undertaken these challenges and formed extensive programs in STEM education.

FASEB (Federation of American Societies for Experimental Biology) programs such as:

Resources for Faculty and K-12 Teachers

APS Frontiers in Physiology Program – Provides professional development for middle and high school teachers by providing them with tools and resources and connecting them with researchers on-line and through workshops.

APS Physiology Understanding Week – Fosters relationships among teachers, students, and physiologists. PhUn Week encourages member physiologists across the nation to volunteer and work with teachers in their local community to visit a classroom during the first week in November.

Leap to the Top in Science Classes  from AAAS found at:

http://news.aaas.org/2013_annual_meeting/0214leap-to-the-top-in-science-classes.shtml

A progress report from the 2013 AAAS meeting follows:

Often, in the daily grind of slogging through a difficult science class, students see fully formed scientists and their discoveries as a distant blur. Remote men and women somehow make advanced science happen.

New efforts aim to bring students face to face with creative, imaginative scientists right in their classroom.

With a lifetime of scientific contributions at their back, many retired scientists, engineers, and physicians are returning to school, not as pupils or as instructors, but as classroom volunteers in public elementary, middle, and high schools.

This week over 400 teachers and scientists gathered in Boston for the first International Teacher-Scientist Partnership Conference, organized by AAAS Education and Human Resources and the University of California, San Francisco Science & Health Education Partnership, sponsored by the National Science Foundation. Presenters are scheduled to share a range of partnership models over three days, from scientists generating digital education tools, to teachers participating in research.

Throughout the first day of the conference, the conversation turned to the idea of bringing scientists into the classroom to work directly with the students.

Virginia Shepherd from Vanderbilt University shared a comprehensive analysis of the university’s nearly 20-year-old Graduate STEM Fellows in K-12 Education program. Presentation attendees duly applauded the success of the program but said that they had trouble establishing similar programs in their state for lack of funding.

A handful of organizations represented at the conference have found that an affordable way to bring scientists into the classroom is to recruit retired scientists.

Volunteers at Northeastern University’s Retirees Enhancing Science Education through Experiments and Demonstrations program, or RE-SEED, spend at least one day a week in an elementary, middle, or high school classroom in Massachusetts helping students conduct experiments as part of the existing curriculum.

“Retired scientists and engineers have a lot of experience from a lifetime of working in laboratories. They can make what the students are learning relevant,” said Christos Zahopoulos, a professor of education and engineering at Northeastern University.

Since founding RE-SEED in 1991, Zahopoulos has helped to start similar programs in 15 states, conducting on-site trainings for volunteers. While such programs start out strong, many of them have since faded, with only a handful remaining, he said.

Even though retirees are offering a free service to the schools, getting them trained and placed takes a certain amount of funding, Zahopoulos says. He has been fortunate to fund RE-SEED with private donations. Many programs were not so lucky.

AAAS’ Senior Scientists and Engineers (SSE), a service-oriented organization for retired scientists and engineers, has managed to sustain a similar program for seven years. In 2005, Zahopoulos helped SSE establish its own volunteer program.

Donald Rea, a former research chemist for NASA’s Jet Propulsion Laboratory and SSE volunteer coordinator for Virginia, hopes that helping to reinforce science education will enhance the public understanding of science in years to come.

“If you want to have an influence on science literacy, you want to get [kids] while they are young. So we work in classrooms as young as second grade,” Rea said.

This kind of investment takes many years to fully mature. So, how do Rea and Zahopoulos measure success? They look to their teachers, volunteers, and students.

Rea said he measures success by the eagerness of schools and teachers to participate year after year.

For Zahopoulos, hints of success sometimes come in the mail. He says one student wrote in to RE-SEED upon graduating from high school, several years after any contact with a RE-SEED volunteer, to say that she had decided to major in biology and had enrolled in a pre-medicine program.

Both Rea and Zahopoulos said they have been amazed at the dedication and eagerness of volunteers.

“When we first started, we asked volunteers to commit to one day a week for one year. Now we have volunteers who have been with us for 18 years and some volunteer as many as 4 times per week,” Zahopoulos said.

Ron McKnight, a former Department of Energy physicists and SSE volunteer has recently taken on the task of coordinating volunteers living in Montgomery County, Md. He still volunteers in middle school science classrooms and is considering taking on another assignment.

When asked what he loves about volunteering, he replied, “Whenever a kid I’m working with asks a really good question, that’s when I have a really good day.”

National Science Foundation (NSF) Research on Learning in Formal and Informal Settings (DRL)

Information can be found at http://www.nsf.gov/div/index.jsp?div=DRL

DRL invests in projects to improve the effectiveness of STEM learning for people of all ages. Its mission includes promoting innovative research, development, and evaluation of learning and teaching across all STEM disciplines by advancing cutting-edge knowledge and practices in both formal and informal learning settings. DRL also promotes the broadening and deepening of capacity and impact in the educational sciences by encouraging the participation of scientists, engineers, and educators from the range of disciplines represented at NSF. Therefore, DRL’s role in the larger context of Federal support for education research and evaluation is to be a catalyst for change—advancing theory, method, measurement, development, and application in STEM education. The Division seeks to advance both early, promising innovations as well as larger-scale adoptions of proven educational innovations. In doing so, it challenges the field to create the ideas, resources, and human capacity to bring about the needed transformation of STEM education for the 21st century.

Society of Toxicology K-12 Educational Outreach for Scientists

http://www.toxicology.org/ai/k12o/k-12scientists.asp

This sites contains multiple .pdf  files on volunteering and mentoring topics including

  • Scientist Mentor Ideas
  • Links to Other Mentoring Sites
  • Resources for toxicologists to use in K-12 Outreach
  • Regional Chapter K-12 Outreach

References:

1.         Alberts B: Mobilizing scientific societies. Science 2012, 338(6113):1396.

for high school teachers please see https://www.teachercertificationdegrees.com/top-blogs/science-teacher/

 

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Reporter: Aviva Lev-Ari, PhD, RN

What is AAAS?

The AAAS building, looking southwest at New York Avenue and 12th Street

The American Association for the Advancement of Science, “Triple A-S” (AAAS), is an international non-profit organization dedicated to advancing science around the world by serving as an educator, leader, spokesperson and professional association. In addition to organizing membership activities, AAAS publishes the journal Science, as well as many scientific newsletters, books and reports, and spearheads programs that raise the bar of understanding for science worldwide.

AAAS History
Founded in 1848, AAAS serves some 261 affiliated societies and academies of science, serving 10 million individuals. Science has the largest paid circulation of any peer-reviewed general science journal in the world, with an estimated total readership of one million. The non-profit AAAS is open to all and fulfills its mission to “advance science and serve society” through initiatives in science policy; international programs; science education; and more. For the latest research news, log onto EurekAlert!, the premier science-news Web site, a service of AAAS.

AAAS is a global organization, with offices in Washington, D.C. and Cambridge, U.K., and award-winning news correspondents reporting from an array of countries. The U.S. headquarters facility, designed by renowned architect Henry N. Cobb of Pei Cobb Freed & Partners, was dedicated in September 1997 as the William T. Golden Center for Science and Engineering, in honor of the Association’s long-time treasurer. In 2009, the AAAS headquarters facility became the first existing, not newly constructed facility in the District of Columbia to earn a gold-level certification through the U.S. Green Building Council‘s Leadership Environmental & Energy Design program.

Membership and Programs
Open to all, AAAS membership includes a subscription to Science. Four primary program areas fulfill the AAAS mission:

AAAS Mission
AAAS seeks to “advance science, engineering, and innovation throughout the world for the benefit of all people.” To fulfill this mission, the AAAS Board has set these broad goals:

  • Enhance communication among scientists, engineers, and the public;
  • Promote and defend the integrity of science and its use;
  • Strengthen support for the science and technology enterprise;
  • Provide a voice for science on societal issues;
  • Promote the responsible use of science in public policy;
  • Strengthen and diversify the science and technology workforce;
  • Foster education in science and technology for everyone;
  • Increase public engagement with science and technology; and
  • Advance international cooperation in science.

Symposia – The Science of Uncertainty in Genomic Medicine

Friday, February 15, 2013: 10:00 AM-11:30 AM

Room 313 (Hynes Convention Center)

The notion of “personalizing” health care through the use of an individual’s genetic code has attracted considerable enthusiasm and investment. Impressive examples, confirmed through formal studies of clinical validity and utility, suggest that we have only scratched the surface of applications to treat disease more precisely, identify risk factors for complex disease, and guide preventative measures. As the cost of sequencing entire exomes and genomes falls, the opportunities for people around the world to take possession of their entire genetic code will proliferate. However, one irony of the precise determination of all 3.2 billion nucleotide pairs is the lack of understanding of the meaning of many sequence variations. More than 1,500 single nucleotide variations are associated with risks for more than 200 complex diseases, but despite their commercialization, these account for a small proportion of heritability. Thus, in both translational science and clinical practice, the substantial uncertainty in interpreting genomic information serves as an important barrier to application. Coping with uncertainty can be addressed quantitatively, but how the information is understood, presented, and interpreted has best been addressed qualitatively. Transdisciplinary teams of professionals may be best suited to study the many facets of uncertainty in genomic medicine.

Organizer:

Reed E. Pyeritz, University of Pennsylvania

Co-Organizer:

Shili Lin, Ohio State University

Moderator:

Reed E. Pyeritz, University of Pennsylvania

Speakers:

 

Giovanni Parmigiani, Harvard Medical School

How Useful Is It to Know Your Genome?

James P. Evans, University of North Carolina

Genomics in Clinical Medicine: Navigating the Spectrum from Certainty to Uncertainty

ert C. Green, Partners Center for Personalized Genetic Medicine

 

A Data-Driven Pathway to Genomic Medicine

Friday, February 15, 2013

Room 313 (Hynes Convention Center)

Robert C. Green , Partners Center for Personalized Genetic Medicine, Boston, MA

Physicians and other health care professionals, including medical geneticists, have little understanding or experience in applying information about a person’s entire genome to risk prediction for complex diseases. We have been studying what patients are interested in knowing and how they would like data presented and discussed.

 

The Architecture of the Cell Nucleus

Friday, February 15, 2013: 10:00 AM-11:30 AM

Room 203 (Hynes Convention Center)

The cell nucleus in humans and other higher organisms is filled with chromatin, the protein-DNA complex in which the genome is packaged. However, the arrangement of chromatin within the nucleus is not random. Entire specific regions of the genome are localized near the nuclear periphery; others are sequestered in “organelles” such as the nucleolus. In each case, the location may control the activity of the gene. Certain chromosomes contain genes that control sex-specific features of the organism. Genes on these chromosomes may be specifically silenced or activated by structures that propagate and extend over the entire chromosome. It has been known for a long time that the expression of genes is controlled by DNA sequence elements located close to the genes themselves. However, striking results obtained over the last several years show that important contributions to this regulation are also made by DNA sequences far away from the target gene: within the nucleus, distant sites on chromatin make many specific and preferred long-range contacts. Many of these are associated with previously unsuspected regulatory pathways. All these results lead to a revised view of the nucleus, which contains both complex networks of interacting sites and highly organized substructures.

Organizer:

Gary Felsenfeld, National Institute of Diabetes and Digestive and Kidney Diseases

Moderator:

Gary Felsenfeld, National Institute of Diabetes and Digestive and Kidney Diseases

Speakers:

 

Mitzi Kuroda, Harvard Medical School

Chromosome-Specific Targeting of Dosage Compensation in Drosophila

 

Thomas A. Misteli, National Cancer Institute

Nuclear Architecture and Disease

 

Job Dekker, University of Massachusetts Medical School

3D Folding of Genomes

New Frontiers in Single Molecule Detection and Single Cell Analysis

Saturday, February 16, 2013: 8:30 AM-11:30 AM

Room 206 (Hynes Convention Center)

Single molecule detection (SMD) and single cell analysis (SCA) offer unique opportunities for detection of biomarkers for early disease diagnosis, for ultrasensitive assessing of environmental impacts, and for probing distinctive functions of individual molecules in single live cells. Smart functions of single live cells have also inspired designs of intelligent bio-inspired devices. At the cellular level, a small number of biomolecules can induce drastic cellular responses and lead to disease, emphasizing the importance of molecular detection of trace amounts of biomolecules in single live cells. This symposium is structured to showcase the latest advances in SMD and SCA and their applications.

Organizer:

X. Nancy Xu, Old Dominion University

Moderator:

X. Nancy Xu, Old Dominion University

Speakers:

 

Robert Singer, Albert Einstein College of Medicine

Following Single mRNA Molecules in Living Cells and Tissues

 

George Church, Harvard Medical School

In Situ Sequencing

 

Linda B. McGown, Rensselaer Polytechnic Institute

Investigating Protein Capture at Aptamer‑Coated Surfaces

 

X. Nancy Xu, Old Dominion University

Nanoparticle Biosensors for Mapping Single‑Molecule Functions in Single Live Cells

 

Scott Fraser, California Institute of Technology

Imaging the Cellular and Molecular Dynamics That Pattern Embryos

 

Xiaowei Zhuang, Harvard University

Single‑Molecule and Super‑Resolution Imaging of Cells and Tissues

Confluence of Streams of Knowledge: Biotechnology and Nanotechnology

How Macro-Evolutionary Studies Call for an Extended Synthesis

Sunday, February 17, 2013: 8:30 AM-11:30 AM

Room 203 (Hynes Convention Center)

When Eldredge and Gould formulated the punctuated equilibria theory, they put several macroevolutionary phenomena on the agenda that were not addressed by the early population geneticists and the founders of the Modern Synthesis. Their theory provides alternative scientific interpretations for the mode and tempo of evolution. Occurring gaps in the fossil record, or the lack of evidence for the existence of intermediate species, are understood as real. And some (living) fossils do not appear to undergo any significant evolutionary change for millions of years, which necessitates the study of stasis. Acknowledging that evolution can occur faster or slower than predicted by Neodarwinians has consequences for how we define species and for determining the levels of evolution. Macroevolutionary studies provide different species concepts and argue that evolution can occur at levels higher than the pheno- or genotype. Today, multiple scholars investigate the causes of evolutionary stasis as well as punctuations, macroevolutionary trends, and how evolution occurs at different hierarchies. In recent years, evidence for macroevolution is also provided from within the field of molecular biology, and the pattern of punctuated equilibrium has been proven to be present in neontological and even sociocultural evolutionary phenomena. The session will examine how macroevolutionary studies call for an extension of the Modern Synthesis and which methodologies and techniques enable the study of macroevolutionary events.

Organizer:

Nathalie L. Gontier, University of Lisbon

Co-Organizer:

Emanuele Serrelli, University of Milan-Bicocca

Moderator:

Emanuele Serrelli, University of Milan-Bicocca

Speakers:

 

David Sepkoski, Max Planck Institute for the History of Science

Stephen Jay Gould’s Hierarchical Alternative to Neodarwinism

 

Douglas H. Erwin, Smithsonian Institution

The Evolution of Evolution: Changing Dynamics in Macroevolution

 

Derek Turner, Connecticut College

Contingency and the Explanation of Macroevolutionary Trends

 

Folmer Bokma, Umeå University

Complexity and Limits to Change

 

Nathalie L. Gontier, University of Lisbon

Punctuated Equilibria: A Universal Pattern in Life and Culture

 

Alycia L. Stigall, Ohio University

Expanding the Role of Biogeography and Niche Evolution in Macroevolutionary Theory

How Macro-Evolutionary Studies Call for an Extended Synthesis

Sunday, February 17, 2013: 8:30 AM-11:30 AM

Room 203 (Hynes Convention Center)

When Eldredge and Gould formulated the punctuated equilibria theory, they put several macroevolutionary phenomena on the agenda that were not addressed by the early population geneticists and the founders of the Modern Synthesis. Their theory provides alternative scientific interpretations for the mode and tempo of evolution. Occurring gaps in the fossil record, or the lack of evidence for the existence of intermediate species, are understood as real. And some (living) fossils do not appear to undergo any significant evolutionary change for millions of years, which necessitates the study of stasis. Acknowledging that evolution can occur faster or slower than predicted by Neodarwinians has consequences for how we define species and for determining the levels of evolution. Macroevolutionary studies provide different species concepts and argue that evolution can occur at levels higher than the pheno- or genotype. Today, multiple scholars investigate the causes of evolutionary stasis as well as punctuations, macroevolutionary trends, and how evolution occurs at different hierarchies. In recent years, evidence for macroevolution is also provided from within the field of molecular biology, and the pattern of punctuated equilibrium has been proven to be present in neontological and even sociocultural evolutionary phenomena. The session will examine how macroevolutionary studies call for an extension of the Modern Synthesis and which methodologies and techniques enable the study of macroevolutionary events.

Organizer:

Nathalie L. Gontier, University of Lisbon

Co-Organizer:

Emanuele Serrelli, University of Milan-Bicocca

Moderator:

Emanuele Serrelli, University of Milan-Bicocca

Speakers:

 

David Sepkoski, Max Planck Institute for the History of Science

Stephen Jay Gould’s Hierarchical Alternative to Neodarwinism

 

Douglas H. Erwin, Smithsonian Institution

The Evolution of Evolution: Changing Dynamics in Macroevolution

 

Derek Turner, Connecticut College

Contingency and the Explanation of Macroevolutionary Trends

 

Folmer Bokma, Umeå University

Complexity and Limits to Change

 

Nathalie L. Gontier, University of Lisbon

Punctuated Equilibria: A Universal Pattern in Life and Culture

 

Alycia L. Stigall, Ohio University

Expanding the Role of Biogeography and Niche Evolution in Macroevolutionary Theory

Monday, February 18, 2013: 9:45 AM-12:45 PM

Room 300 (Hynes Convention Center)

As scientists are able to understand and manipulate ever-smaller scales of matter, a confluence of research streams in the fields of biotechnology and nanotechnology has enabled such innovations as lab-on-a-chip devices, targeted drug delivery, and other forms of minimally invasive therapy and diagnostics. As an example of the confluence of technology streams, the tissue-engineering field combines advances in developmental biology with engineering and materials methods to replace or improve tissue, organs, and other biological functions. This is not a typical interdisciplinary situation where a cell type can be given over to an engineer or an engineer can guess what kind of scaffold will work in a biological system. Rather, there must be a multidisciplinary collaboration from the start, with all participants having common reference points and language. Although there are challenges for managing research and development at the confluence of research streams, there is also greater opportunity for radical innovation. Research at confluence of biotechnology and nanotechnology is producing great benefits for society — biomedical innovations and clean energy innovations  — and is stimulating an emerging industrial sector. In this symposium, the challenges and opportunities of such research will be explored, with implications for the organization of research in universities, research institutes, technology ventures, and multinational organizations.

Organizer:

Elicia M.A. Maine, Simon Fraser University

Co-Organizer:

James M. Utterback, Massachusetts Institute of Technology

Moderator:

James M. Utterback, Massachusetts Institute of Technology

Speakers:

 

Robert S. Langer, Massachusetts Institute of Technology

Challenges and Opportunities at the Confluence of Biotechnology and Nanomaterials

 

Nathan Lewis, California Institute of Technology

Clean Energy Innovation from the Confluence of Technologies

 

Sarah Kaplan, University of Toronto

The Process and Practice of Interdisciplinary Research

 

Elicia M.A. Maine, Simon Fraser University

Global Bio-Nano Firms: Exploiting the Confluence of Technologies

 

Han Cao, BioNano Genomics Inc.

Commercializing Innovation: Applying Nanotechnology to Genomics

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