The UCLA Clinical Genomics Center and the Office of ...pathology.ucla.edu/workfiles/Publications/Clinical... · The UCLA Clinical Genomics Center and the Office of Continuing Medical

The UCLA Clinical Genomics Center and theOffice of Continuing Medical Education present

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Clinical Applications of Genome-Wide Testing

Friday, January 27, 2012NRB AuditoriumUCLA Campus

Clinical Applications of Genome-Wide TestingCOURSE DESCRIPTIONThe UCLA Clinical Genomics Center’s all-day symposium will provide important information about the appropriate clinical application of whole genome technologies, chromosomal microarray analysis, and whole exome sequencing, and will include how these are used to identify specific mutations in particular Mendelian disorders. Experts in a variety of disorders will highlight examples of improved patient out-comes using this definitive diagnostic approach. The importance of pre- and post-test genetic counseling, and the highly complex ethical considerations associated with this extraordinary diagnostic opportunity, will be addressed.

This course is targeted to adult and pediatric specialists in cardiology, neurology, ophthalmology, psychia-try, and neonatology; general and fetal medicine obstetricians; audiologists and ENT physicians; clinical and molecular geneticists; genetics counselors; molecular pathologists; and pathologists with an interest in genetics.

GOALS AND OBJECTIVESAt the conclusion of this course participants should be able to:• Discussappropriateapplicationofgenome-wideanalysiswithinclinicalpracticeandbecomeawareofhowandwheretoaccesstheseservices

• ExplorespecificdiagnosticstrategiesforMendeliandisorderssuchasskeletaldysplasias,disordersofsexualdevelopment,deafness,andDNArepair

• Recognizeandemphasizetheimportanceofpre-andpost-testgeneticcounselingforwholegenomeanalysis

Course ChairWayne W. Grody, MD, PhD, FACMG, FCAPProfessor of Pathology and Laboratory Medicine, Pediatrics, and Human Genetics*Director, UCLA Diagnostic Molecular Pathology LaboratoryDirector, Clinical Genomics Center

Course Co-ChairFabiola Quintero-Rivera, MD, FACMGAssistant Professor*Department of Pathology and Laboratory MedicineAssociate Director, Clinical and Molecular Cytogenetics LaboratoryUCLA Health System

Keynote SpeakerRobert C. Green, MD, MPHAssociate Director for Research, Partners Center for Personalized Genetic MedicineDivision of Genetics, Department of MedicineBrigham and Women’s Hospital and Harvard Medical School

UCLA FacultyStephen Cederbaum, MD, FACMGProfessor, Emeritus-recalled of Psychiatry, Pediatrics, and Human Genetics*

Kingshuk Das, MD, FCAPAssistant Professor*Associate Medical Director, UCLA Diagnostic Molecular Pathology LaboratoryDepartment of Pathology and Labora-tory Medicine

Josh Deignan, PhD, FACMGAssistant Professor*Associate Director, UCLA Diagnostic Molecular Pathology LaboratoryAssociate Director, UCLA Orphan Disease Testing CenterDepartment of Pathology and Labora-tory Medicine

Naghmeh Dorrani, MS, CGCCertified Genetics Counselor*Department of Pediatrics

Richard A. Gatti, MD, FAAPRebecca Smith Distinguished Professor*Co-Director, UCLA Diagnostic Molecular Pathology LaboratoryDepartments of Pathology and Labo-ratory Medicine and Human Genetics

Deborah Krakow, MDProfessor of Orthopaedic Surgery, Human Genetics and Obstetrics and Gynecology*

Xinmin Li, PhDProfessor* Department of Pathology and Laboratory Medicine

Stanley F. Nelson, MDProfessor*Departments of Human Genetics, Pathology and Laboratory Medicine, and Psychiatry

Christina G.S. Palmer, PhD, MS, CGC, FACMGProfessor*Departments of Psychiatry and Biobehavioral Sciences and Human GeneticsCenter for Society and Genetics

Stefan Timmermans, PhDProfessor and Chair Department of Sociology

Eric Vilain, MD, PhD, FACMGProfessor of Human Genetics, Pediatrics and Urology*Director, Center for Society and GeneticsChief, Medical Genetics, Department of Pediatrics

COURSE FACULTY

* David Geffen School of Medicine at UCLA

PROGRAM SCHEDULE

7:30 Registration/Continental Breakfast

8:25 Opening Remarks/Welcome

8:30 Evolution of an Analyte: From Double Helix to Whole Genome Wayne W. Grody, MD, PhD, FACMG, FCAP

9:00 My How You’ve Changed: This Isn’t Your Mother’s Medical Genetics Stephen Cederbaum, MD, FACMG

9:15 Clinical Applications of Microarray Technology Xinmin Li, PhD

9:45 Clinical Diagnostic Power of the SNP Chromosomal Microarray: Institutional Experience

Fabiola Quintero-Rivera, MD, FACMG

10:15 Break

10:45 Clinical Next Generation Sequencing: Challenges for Analysis and Interpretation

Josh Deignan, PhD, FACMG

11:15 Use of Exome Sequencing for Clinical Diagnostics Stanley F. Nelson, MD

11:30 How Well Do We Read DNA? Richard A. Gatti, MD, FAAP

12:00 Lunch

1:00 Genetic Counseling Essential to the Whole Exome Sequencing Naghmeh Dorrani, MS, CGC

1:30 Keynote Address: Translational Genomics and Health Outcomes: The Path to Genomic Medicine

Robert C. Green, MD, MPH

2:30 Next Generation Sequencing for Diagnosis of Disorders of Sexual Development

Eric Vilain, MD, PhD, FACMG

3:00 Break

3:30 Next Generation Sequencing in the Evaluation of a Deaf/Hard of Hearing Patient

Christina G.S. Palmer, PhD, MS, CGC, FACMG

4:00 Whole Exome Sequencing for Diagnosis of Skeletal Dysplasias Deborah Krakow, MD

4:30 “But What Will We Tell the Patient?” Social Challenges of Whole Exome Sequencing

Stefan Timmermans, PhD

5:00 Guided Tour of Microarray and Sequencing Facilities Xinmin Li, PhD, Stanley F. Nelson, MD, and Kingshuk Das, MD, FCAP

5:30 Adjourn

Fee $125

RefundsCancellations must be received in writing by Friday, January 6, 2012 and will be subject to a $50 processing fee. No refunds will be granted after that date. If, for any reason, the course must be cancelled, discontinued, or rescheduled by the Office of Continuing Medical Education, a full refund will be provided.

Enrollment

By MailUse the form attached. Mail to the UCLA Office of Continuing Medical Education, David Geffen School of Medicine at UCLA, Clinical Applications of Genome-Wide Testing, 10920 Wilshire Blvd., Ste. 1060, Los Angeles, CA 90024-6512

OnlineGo to www.cme.ucla.edu/courses, click on Clinical Applications of Genome-Wide Testing, and click on the registration button. You may use your Master-Card, VISA, American Express or Discover card to register online.

By PhoneUse your MasterCard, VISA or Discover card. Call (310) 794-2620.Email address: [email protected]

By FAXSend the completed enrollment form with credit card information and authorizing signature.Fax: (310) 794-2624

Program Location NRB AuditoriumNeuroscience Research Building635 Charles E. Young Drive SouthLos Angeles, CA 90095

AccreditationThe Office of Continuing Medical Education, David Geffen School of Medicine at UCLA is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.

The Office of Continuing Medical Education, David Geffen School of Medicine at UCLA designates this live activity for a maximum of 6.5 AMA PRA Category 1 CreditsTM. Physicians should claim only credit commensurate with the extent of their participation in the activity.

Disclosure StatementThe FDA has issued a concept paper which classi-fies commercial support of scientific and education-al programs as promotional unless it can be affirmed that the program is “truly independent” and free of commercial influence. In addition to independence,

the FDA requires that nonpromotional, commercially supported education be objective, balanced, and scientifically rigorous. The policy further states that all potential conflicts of interest of the CME staff and faculty be fully disclosed to the program’s partici-pants. In addition, Accreditation Council for Continu-ing Medical Education policy now mandates that the provider adequately manages all identified potential conflicts of interest prior to the program. We at UCLA fully endorse the letter and spirit of these concepts.

Directions and Parking From the 405 freeway, exit on Wilshire Blvd. East. Proceed on Wilshire Blvd. to Westwood Blvd. and make a left. Proceed north on Westwood Blvd., turn right on Charles E. Young Drive South and continue ½ a block. Turn left into Lot 9. There will be an at-tendant selling permits. Parking is $11 daily

AccommodationsSeveral hotels are located within walking distance of the course venue. When making your reserva-tion, request the UCLA group rate.The W Hotel930 Hilgard AvenueLos Angeles, CA 90024(310) 208-8765$289/nightHotel Palomar10740 Wilshire BoulevardLos Angeles, CA 90024(310) 475-8711$224 & up/nightHilgard House927 Hilgard AvenueLos Angeles, CA 90024(866) 539-0036$164/night

Alternative Accommodations:UCLA Tiverton House900 Tiverton AvenueLos Angeles, CA 90024(310) 794-0151$139/night

Additional InformationIf you have any questions, please contact the UCLA Office of Continuing Medical Education at 310-794-2620.

Please visit our website for other UCLA CME course offerings: www.cme.ucla.edu

Early registration is recommended, as space is limited.

GENERAL INFORMATION

Course Title and Number Registration Fee

Clinical Applications of Genome-Wide Testing M112-30 $125.00

Mail Application for Enrollment (Please Print) Winter 2012

Last four digits of your Social Security Number

Name (First/Middle/Last) Degree Male Female

Preferred Mailing Address

City/State/ZIP Area Code Daytime Phone

Specialty Area Code Fax

c E-mail PLEASE PRINT

Authorizing Signature Expiration (Mo/Yr)

REGISTRATION

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Check enclosed payable to: The Regents of the University of California

Charge: MasterCard Visa Discover

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Mail to: Office of Continuing Medical Education, David Geffen School of Medicine at UCLA, Clinical Applications of Genome-Wide Testing, 10920 Wilshire Blvd., Suite 1060, Los Angeles, CA 90024-6512.

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