seasons greetings! happy holidays!...seasons greetings! happy holidays! issue 1 december 2012 age...
IN THIS ISSUEn BioMe Facts
n Our Team
n Research Studies using BioMe
n Genetic Test may helppredict Kidney Disease Risk
n Genetic Tests to helpprescribe Medications
n New BioMe Studies
It is with great joy and gratitude webring you BioMe News, a newsletter
for participants who signed up for theMount Sinai Biobank Program. This yearwe gave our Biobank Program the name‘BioMe - medicine personalized for you.’In choosing the name BioMe, wethought about participants like you and what you have truly contributed to this project.
As a participant in the BioMeBiobank Program, you are amongover 22,000 other members of thecommunities that Mount Sinaiserves, who have joined because theywant to help researchers improve healthand healthcare in the future. The BioMeBiobank Program has grown to becomethe largest human subjects researchprogram at Mount Sinai. Since the dayyou enrolled as a participant, eitherduring one of your medical care visitswith your Mount Sinai doctors if you area patient, or during your work here if
you are a Mount Sinai employee, a lot ofnew and exciting research activities havehappened and we are pleased to tell youabout them in this issue of the BioMeNews newsletter.
BioMe News brings you updates twice ayear on our progress in research and
future researchopportunities for which you may qualifyand that may help your health. We hopeyou find this newsletter of interest.
Your BioMe Team
Seasons Greetings! Happy Holidays!
Age ranges as of September 2012from 22,205 enrolled participants
BioMe Factsby Tanisha Brown, MBA
Our Team by Tanisha Brown, MBA
Our BioMe team is a group of friendlyprofessionals with varied backgroundsand expertise. When participants areconsented by BioMe recruiters, weensure all participants receivepersonalized care from the very start. Weaim to address all participants’ questionsand concerns and encourage feedbackfrom our participants to help improvethe way we approach new donors.
The BioMe recruiters work vigorouslyand are stationed at different locationsthroughout Mount Sinai and itsaffiliates, approaching potentialparticipants and informing them aboutthe BioMe Biobank Program. They arethe core of the BioMe Biobank Program,meeting with potential participants,reviewing the Informed Consent Formand responding to pertinent questionsand/or concerns from our donors likeyou. They ensure that the consentprocess is complete and all participants’information is entered accurately. The
BioMe recruiters ensure that allparticipants have a positive and pleasantexperience during their time with us.
Our licensed BioMe laboratorytechnicians receive participants’ donatedblood samples from the recruiters andbegin sample processing. Ourtechnicians work meticulously ensuringthat all blood samples are processed andstored safely for future research use. Theentire BioMe team is one hundredpercent committed to safeguardingparticipants’ privacy at every step.
Role of Microbiome in Crohn’sDiseaseInga Peter, PhD
Dr. Peter is trying to identify types ofbacteria that reside in the intestine ofhealthy individuals and compare themto individuals with Crohn’s disease.“Our preliminary data indicate thatindividuals with Crohn’s disease, anautoimmunecondition in whichthe immune systemattacks its ownhealthy tissue ingastrointestinal track,causing chronicinflammation, haveless variety of non-harmfulmicro organism intheir gut thanindividuals who donot have the disease. If we can identifyspecific bacteria that is absent inCrohn’s disease patient, we may designnew treatments that would providesuch bacteria, including probioticfoods,” says Dr. Peter.
Hepatitis C and InterferonInduced ThyroiditisYaron Tomer, MD
Hepatitis C virus (HCV) is the mostcommon chronic blood-borneinfection in the U.S. This researchproject tests the hypothesis(explanation of previous observations)that HCV and interferon alpha (a
medication used to treatHCV) can trigger thyroiditis(inflammation of the thyroidgland) in geneticallyvulnerable individuals.
Association Studies ofTandem Repeat Geneswith Common HumanDiseaseAndrew Sharp, PhD
Dr. Sharp’s research is focusingon 20 of the most highly variableTandem Repeats (TR) genes. TR genesrepresent a highly variable part of thegenome. The genome is the entire setof genetic instructions found in a cell.
Erwin Bottinger, MDPrincipal Investigator & Director of The Charles Bronfman Institute forPersonalized Medicine
Omri Gottesman, MDAssistant Professor in Medicine; BioMeBiobank Scientific Manager
Tanisha Brown, MBABioMe Biobank Manager
Yolanda KeppelProgram Manager
YuMin LiBernadette Liggayu Patrick Shanley
Antoinette BonaccorsoNaja Daniels Alanna GomezMaria Saravia
Research Studies using BioMe by Yolanda Keppel
The purpose of the BioMe Biobank is to enable research to improve healthcare for ourcommunities. More than 50 Mount Sinai researchers have already made use of thesamples and data for their studies. Here we tell you about new studies that wereapproved in 2012 and made use of BioMe Biobank in their research.
13,143 of the enrolled participantsare females and 9,062 are males.
A genetic test may help predict kidney disease risk inAfrican Americans with high blood pressure by Erwin Bottinger, MD
Compared to European Americans, African Americans are fourto five times more likely to developkidney failure. Family members ofAfrican Americans with kidneyfailure are also more likely todevelop kidney failure, suggestingthat genetic factors may contributeto and change kidney disease riskbetween races. Recent studies showthat different forms of a gene calledAPOL1 helps to explain why someAfrican Americans are likely to develop kidney disease.
“We examined these APOL1 risk variants in 15,000 of ourBioMe participants, including 5,000 with African ancestry. Theresults of APOL1 variant testing for our Mount Sinai patientsshowed that our African American patients with high bloodpressure who inherited two copies of the APOL1 variants arefour times more likely to have kidney disease compared to thosewith one or no APOL1 variant copy,” says Dr. Bottinger, theprincipal investigator of the BioMe Biobank and the Director ofThe Charles Bronfman Institute for Personalized Medicine.“The results from Mount Sinai patients are compelling enoughto examine how APOL1 genetic testing may be used in earlyscreening to determine people’s risk for kidney failure. If geneticrisk is detected early an appropriate treatment could potentiallysafeguard against kidney failure. Here at Mount Sinai, we arealready working on a new study to make testing for APOL1gene variants available for our patients and their physicians andto examine whether this will help prevent kidney failure inAfrican Americans with high blood pressure,” says Dr.Bottinger.
Pharmacogenetics (PGx): Using genetic tests to helpprescribe medications that really work by Omri Gottesman, MD
“As a result of programs such as BioMe, we have learned a lotabout the role that genetics play in the way that people developdiseases and respond to treatments,” says Dr. Gottesman. “Oneof the most promising areas is the field of pharmacogenomics,which deals with how patients’ genetic makeup may influencetheir response to a medication – either that a medication worksbetter or worse, or whether patients are more or less likely tosuffer side effects.” Here at The Charles Bronfman Institute forPersonalized Medicine, we have developed the CLIPMERGEsystem. CLIPMERGE stands for CLinical Implementation ofPersonalized Medicine through Electronic health Records andGEnomics. CLIPMERGE is anadvanced computer application thatanalyzes patient data, both geneticand clinical, and tries to predictwhether there is a risk to a patientthat should be communicated totheir doctor through a process calledClinical Decision Support.
Clinical Decision Support:
n Consists of computerized alertsthat appear on the physicians’computer screen as they are entering information, such aprescribing a medication, through a hospital’s ElectronicMedical Record.
n Might alert the physician to the fact that the patient has anallergy to that medication, or in the case of our current study,CLIPMERGE PGx, may advise them that there is somethingin a patient’s genetic makeup that means that the drug ordose they chose to prescribe may not be the best choice.
In the near future, it is hoped that doctors will be able toroutinely use information about their patient’s genetic makeupto choose those drugs and drug doses that offer the greatestchance of helping.
News about research projects using BioMe samples and/or data In this issue of the BioMe News, we want to tell you more about new studies to bring genetic testing results into clinical care for BioMeparticipants like you.
Personalized medicine is a new form of medicine wheredoctors use biological information and other data to developcustomized medical care that provides the right treatment tothe right patient at the right time. This type of research hasthe potential to create new means of:
n Detecting and treatingdiseases earlier
n Unlocking cures forserious diseases
n Reducing adversemedication reactions
n Reducing healthcarecost.
BioMestarted enrollment on 9/18/07
Erwin Bottinger, MD
Did you know?
Omri Gottesman, MD
New BioMe Studies for YouWe would like to know you better. Therefore, a member of the BioMe team will be in touch in the next few months to ask you questionsabout how physically active you are, what food you eat, whether you smoke, etc. If you are interested in participating, do not hesitate tocontact us at (212) 241-5556. A member of the BioMe team can meet you either in person or over the phone. You will be compensated foryour time spent with us.
CLIPMERGE Pharmacogenetics (PGx)is a research study that will examine howthe use of patient’s genetic informationmay help doctors make better and saferprescribing decisions (PrincipalInvestigator: Omri Gottesman, MD)
We will be sending letters to about 3,000BioMe participants inviting them to takepart in CLIPMERGE PGx.
The purpose of the project is to learnhow to communicate geneticinformation to doctors and whether theyfind it useful. It is hoped that as a resultof projects such as CLIPMERGE PGx, it will become routine for doctors to usetheir patient’s genetic information tomake healthcare decisions. The study is
funded by The Charles BronfmanInstitute for Personalized Medicine. To learn more about CLIPMERGE PGxand to find out if you are eligible toparticipate, please call the clinicalresearch coordinator Ana Mejia at (212) 241-7562.
The New York Chronic Kidney Disease(CKD) Biomarker Discovery Program isa research project designed to gaininformation and identify new markersthat will better predict the risks forkidney disease in patients with diabetesor high blood pressure. (PrincipalInvestigator: Erwin Bottinger, MD)
The purpose of this research project is tostudy urine samples for kidney functioncollected from participants enrolled inthe BioMe Project. It is hoped that theinformation learned from this study willlead to new tests to predict kidneydisease, in particular in individuals whohave diabetes or high blood pressure. The study is funded by a grant from theNational Institute for Diabetes Digestiveand Kidney Disease (NIDDK, Grant #5U01DK085688). To learn more aboutthe New York CKD BiomarkerDiscovery Program and to find out if youare eligible to participate, please call theclinical research coordinator, Ana Mejiaat (212) 241-7562.
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The Charles Bronfman Institute for Personalized MedicineMount Sinai School of MedicineOne Gustave L. Levy Place, Box 1003New York, NY 10029-6574