Conference Program - ABRF 2011 - Association of Biomolecular ...

Plenary Session AbstractsPlenary SessionAbstracts(PS1) Personalized Medicine: Opportunitiesand ChallengesR. KucherlapatiHarvard Medical School Department of Genetics andProfessor, Department of Medicine, Brigham and Women’sHospital, Boston, MA, United StatesThe completion of the sequencing of the human genome has augureda new era in genetics. The genome program not only provided uswith the complete sequence but also lead to a revolution in manytechnologies that are critical to biology and medicine. The cost ofDNA sequencing has gone down significantly and is expected to godown further. This technology is enabling us to examine genetic andgenomic differences among and between individuals at a depth thathas not been possible before. The application of genetic and genomicknowledge to assess disease risk, to accurately diagnose disease and tohelp with determining the appropriate therapy is called personalizedmedicine. Our understanding about human genetic variation and howthis influences risk of many complex disorders is increasing at a rapidpace. Assessing individual risk may help prevent or postpone the onsetof human diseases. The genetics of human disease is complex and theuse of genetic information may help us better diagnose disease that inturn may alter management of the disease. In the case of cancer, somaticgenetic changes are helping stratify patients and helping choose themost appropriate drug or therapy to which the patients is most likelyto respond. All of these changes are bringing in a new era whereimplementation of the principles of personalized medicine wouldresult in better health for our population at an affordable cost.(PS2) Unlocking Biomarker Discovery: UnbiasedHuman Proteomics at High Scale, Sensitivity,and AccuracyL. GoldSomaLogic, Inc., Boulder, CO, United StatesUnbiased human proteomics should be used for biomarker discovery,given that one’s capacity to deduce (from the literature) sensiblebiomarkers for disease is severely constrained by our limitedknowledge of human biology. Empiricism will rule the field for yearsto come. We have worked for more than a decade on building aproteomics platform that allows such empiricism. The platform utilizesa special class of aptamers, called SOMAmers that have enhancedaffinities and specificities toward their target proteins. SOMAmerperformance is sufficient to allow our platform to operate without pairsof affinity reagents for each target protein — in other words, we do notuse “sandwiches.” Today we measure more than 1,000 human proteinsfrom human samples (plasma, serum, tissue extracts, or other matrices),using only a small volume of sample. The measurements have limitsof detection similar to those of good ELISA’s, and low CV’s (around5%). We anticipate additional content in the near future — as newcontent is added to the platform, performance appears to get better.To date we have analyzed more than 10,000 samples from individuals,and studied a number of diseases. In most cases we have found novel(and unexpected) biomarkers, which, when used together in a smallpanel, offer hopes for accurate diagnostic information for patients andphysicians. The first diagnostic products will enter the market soon.(PS3) En Route to the Era of Genomic MedicineE.D. GreenNational Human Genome Research Institute, Bethesda, MD,United StatesThe Human Genome Project s completion of the human genomesequence in 2003 was a landmark scientific achievement of historicsignificance. It also signified a critical transition for the field of genomics,as the new foundation of genomic knowledge started to be used inpowerful ways by researchers and clinicians to tackle increasinglycomplex problems in biomedicine. To exploit the opportunitiesprovided by the human genome sequence and to ensure the productivegrowth of genomics as one of the most vital biomedical disciplines ofthe 21st century, the National Human Genome Research Institute(NHGRI) is pursuing a broad vision for genomics research beyond theHuman Genome Project. This vision includes facilitating and supportingthe highest-priority research areas that interconnect genomics tobiology, to health, and to society. Current efforts in genomics researchare focused on using genomic data, technologies, and insights toacquire a deeper understanding of biology and to uncover the geneticbasis of human disease. Some of the most profound advances arebeing catalyzed by revolutionary new DNA sequencing technologies;these methods are already producing prodigious amounts of DNAsequence data, including from large numbers of individual patients.Such a capability, coupled with better associations between geneticdiseases and specific regions of the human genome, are acceleratingour understanding of the genetic basis for complex genetic disordersand for drug response. Together, these developments will usher in theera of genomic medicine.(PS4) Selventa Development of a TherapeuticDiagnostic TM Stratification Biomarker for DrugResponse in Ulcerative ColitisD. de GraafSelventa, Cambridge, MA, United StatesUsing a gene expression data set from Ulcerative Colitis patientstreated with Infliximab with objective response criteria as input dataand our proprietary Selventa analytics, we have developed a diseaseclassifier which identifies alternative molecular mechanisms driving thedisease beyond TNF-alpha, the target of Infliximab. This TherapeuticDiagnostic TM classifier identifies at least 3 more strong, independentdisease drivers, including IL-6, and provides the opportunity to stratifypatient a priori by molecular disease mechanism and associatedtreatment(s). In the case of IL6 we provide supporting evidence in arelated disease that indicates the complementary nature of the TNFalphaand IL-6 disease driving mechanisms, as a partial validation of theapproach. This approach does not rely on response data to developclassifiers and is easily generalized to deliver patient stratification forany specific disease population in Early Discovery with an optimizedproject portfolio as a result.34 • ABRF 2011 — Technologies to Enable Personalized Medicine