Table of Contents
Accreditation Statement
Evaluation Form, Category 1 Credits/Certificate of Attendance
Disclosure Statement
Medical Disclaimer
Acknowledgements
Disclosures
Conference Faculty
Planning Committee
Program Agenda
Overall Event Learning Objectives
Individual Session Learning Objectives
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3
3
3
4-5
5
6-7
7
8-16
Welcome to the
2014 Pauline Wilson Horner Genetics Symposium
20th Anniversary of the Center for Human Genetics
From Genetics to Genomics
November 7, 2014
Cleveland, OH
Continuing Education:
Accreditation Statement:
Case Western Reserve University School of Medicine is accredited by the Accreditation Council for Continuing
Medical Education to provide continuing medical education for physicians.
Case Western Reserve University School of Medicine designates this live activity for a maximum of 6.75 AMA
PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their
participation in the activity.
Evaluation and CME Credit Certificate:
The conference evaluation and CME credit certificate are available via the Internet. Once you have completed
the evaluation and claimed credit commensurate with your participation in this activity, a printable certificate
of credit will be available. A table to help you keep track of the sessions you attended is on the next page.

The link to the evaluation and certificate is as follows:
http://goo.gl/BAJV8x

At the end of the evaluation, you will be automatically forwarded to the credit claim screen. If you
have already registered with the Case Western Reserve University CME website, please log in
using your email address and password. If you have never logged into the Case Western Reserve
University CME website, enter your email address, select the “I am a new user” radio button and
follow the prompts. You will need to register and go back to the “log-in” screen before you will be able
to enter the CME Code.

Enter the CME Code: 167631
You will be asked to enter the credits commensurate with your participation in the activity.
Once you have entered those credits, a certificate will come up that you can print for your
records. On the next page we have provided a table of the sessions to assist in keeping track of
hours earned.
Genetic Counselor CEUs:
The National Society of Genetic Counselors (NSGC) has authorized Case Western Reserve University to offer
up to 0.675 CEUs or 6.75 contact hours (Category 1) for the event 2014 Pauline Horner Wilson Genetics
Symposium, 20th Anniversary of the Center for Human Genetics, From Genetics to Genomics. The American
Board of Genetic Counseling (ABGC) will accept CEUs earned at this program for the purposes of certification
and recertification.
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Disclosure Statement:
The policy of Case Western Reserve University School of Medicine CME Program (CWRU) requires that the
Activity Director, planning committee members and all activity faculty (that is, anyone in a position to control
the content of the education activity) disclose to the activity participants all relevant financial relationships
with commercial interests. Disclosure will be made to activity participants prior to the commencement of
the activity. Case Western Reserve University School of Medicine CME Program also requires that faculty
make clinical recommendations based on the best available scientific evidence and that faculty identify any
discussion of “off-label” or investigational use of pharmaceutical products or medical devices.
The intent of this policy is not to prevent a presenter with a potential conflict of interest from making a
presentation. It is the right of the audience to know about any such potential conflict of interest which
should be openly identified. Members of the audience may form their own judgments and it is incumbent
upon each listener to determine whether a presenter’s outside interests may reflect a possible bias in either
the exposition or the conclusions presented. Detailed disclosures are made in the Faculty section of this
publication.
Medical Disclaimer:
Medicine is an ever-changing science. As new research and clinical experience broaden our knowledge,
changes in treatment and drug therapy are required. The faculty have checked with sources believed to be
reliable in their efforts to provide information that is complete and generally in accord with the standards
accepted at the time of publication.
Although every effort is made to ensure that this material is accurate and up-to-date, it is provided for the
convenience of the user and should not be considered definitive. Since medicine is an ever-changing science,
neither the authors nor the Case Western Reserve School of Medicine nor any other party who has been
involved in the preparation or publication of this work warrants that the information contained herein is in
every respect accurate or complete, and they are not responsible for any errors or omissions or for the
results obtained from the use of such information.
Readers are encouraged to confirm the information contained herein with other sources. This information
should not be construed as personal medical advice and is not intended to replace medical advice offered by
physicians. The Case School of Medicine will not be liable for any direct, indirect, consequential, special,
exemplary, or other damages arising therefrom.
Acknowledgement:
This program is presented by the Center for Human Genetics of University Hospitals Case Medical Center and
Case Western Reserve University, and funded by a generous grant from the Marguerite M. Wilson Foundation.
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Conference Faculty
Susanne B. Cassidy, MD
Professor
Division of Medical Genetics
Department of Pediatrics
University of California, San Francisco
Dr. Cassidy reported no financial relationship with a commercial interest relevant to this activity. Presentation
will include discussion of unlabeled/investigational uses of a commercial product.
Charis Eng, MD, PhD
ACS and Hardis Professor and Chairperson, Genomic Medicine Institute,
Director, Center for Personalized Genetic Healthcare
Cleveland Clinic
Professor and Vice Chair, Department of Genetics and Genome Sciences
Case Western Reserve University School of Medicine
Dr. Eng reported no financial relationship with a commercial interest relevant to this activity.
Marni Falk, MD
Director, Mitochondrial-Genetic Disease Clinic
Children’s Hospital of Philadelphia
Assistant Professor of Pediatrics, Division of Human Genetics
University of Pennsylvania Perelman School of Medicine
Dr. Falk reported receiving consulting fees from Mitokyne and research support from Raptor Pharmaceuticals.
She is the chair of the Scientific and Medical Advisory Board and a member of the Board of Trustees for the
United Mitochondrial Disease Foundation. The CME program determined there is no conflict of interest.
Stacy Gabriel, PhD
Director of the Genomics Platform
Broad Institute of MIT and Harvard
Dr. Gabriel reported no financial relationship with a commercial interest relevant to this activity.
Nathaniel Robin, MD
Professor of Genetics
University of Alabama
Dr. Robin reported no financial relationship with a commercial interest relevant to this activity.
Peter Scacheri, PhD
Associate Professor
Department of Genetics and Genome Sciences
Case Western Reserve University School of Medicine
Dr. Scacheri reported no financial relationship with a commercial interest relevant to this activity.
Stuart Schwartz, PhD
Strategic Director of Cytogenetics
Cytogenetics Laboratory
Laboratory Corporation of America
Dr. Schwartz reported receiving stock and salary from Laboratory Corporation of America.
The CME program determined there is no conflict of interest.
3
Georgia Wiesner, MD
Director, Clinical and Translational Hereditary Cancer Program
Professor of Medicine
Vanderbilt University
Dr. Wiesner reported no financial relationship with a commercial interest relevant to this activity.
Planning Committee
Suzanne DeBrosse, MD, Co-Chair
Clinical Assistant Professor of Genetics and Genome Sciences, Pediatrics, and Neurology
Dr. DeBrosse reported no financial relationship with a commercial interest relevant to this activity.
Aditi Shah Parikh, MD, Co-Chair
Clinical Assistant Professor of Genetics and Genome Sciences and Pediatrics
Dr. Parikh reported no financial relationship with a commercial interest relevant to this activity.
Leslie Cohen, MS, PhD
Licensed Genetic Counselor
Clinical Instructor, Department of Genetics and Genome Sciences
Dr. Cohen reported no financial relationship with a commercial interest relevant to this activity.
Audrey Lynn, PhD
Adjunct instructor, Department of Biology
Clinical Research Specialist
Dr. Lynn reported no financial relationship with a commercial interest relevant to this activity.
Shawn McCandless, MD
Director, Center for Human Genetics
Associate Professor of Genetics and Genome Sciences and Pediatrics
Dr. McCandless reported no financial relationship with a commercial interest relevant to this activity.
Anna Mitchell, MD, PhD
Assistant Professor of Genetics and Genome Sciences and Pediatrics
Dr. Mitchell reported no financial relationship with a commercial interest relevant to this activity.
Anthony Wynshaw-Boris, MD, PhD
Chair, Department of Genetics and Genome Sciences
James H. Jewell, MD, Professor of Genetics
Dr. Wynshaw-Boris reported no financial relationship with a commercial interest relevant to this activity.
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Program Agenda
2014 Pauline Wilson Horner Genetics Symposium
20th Anniversary of the Center for Human Genetics
From Genetics to Genomics
November 7, 2014
Cleveland, OH
7:30-8:30 a.m.
Wolstein Lobby
BREAKFAST BUFFET
8:30-8:45 a.m.
Wolstein Auditorium 1413
WELCOME
Anthony Wynshaw-Boris, MD, PhD
Shawn McCandless, MD
8:45-9:30 a.m.
Prader-Willi Syndrome, an International Perspective:
Diagnosis Makes All the Difference
Suzanne Cassidy, MD
9:30-10:15 a.m.
PTEN-informed risk assessment and management
Charis Eng, MD, PhD
10:15-10:30 a.m.
BREAK
10:30- 11:15 a.m.
Mitochondrial Disease Sequence Data Resource (MSeqDR)
Marni Falk, MD
11:15-12 p.m.
Enhancer Elements: The next frontier of diagnostics
Peter Scacheri, PhD
12 p.m.
Wolstein Lobby
LUNCH
1-1:45 p.m.
Studying Common, Rare and Somatic Variation in the Human
Genome at Scale
Stacey Gabriel, PhD
1:45-2:30 p.m.
A Dysmorphologist in the Genomics Era
Nathaniel Robin, MD
2:30-2:45
BREAK
2:45-3:30 p.m.
The Changing Landscape of Cancer Genetics
Georgia Wiesner, MD
3:30-4:15 p.m.
The Evolution of Cytogenetics:
The Beginning of the End or the End of the Beginning
Stuart Schwartz, PhD
4:15- 5p.m.
Panel Discussion
5
5 p.m.
CLOSING COMMENTS
Overall Event Learning Objectives
After attending this program, participants will be able to:
1. Identify the current technological capabilities of genomic analysis
2. Integrate information about new genetic technology into clinical practice
3. Recognize the role that DNA variants play in human disease
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Individual Session Learning Objectives
Presentation Title: Prader-Willi Syndrome, an International Perspective: Diagnosis Makes All the Difference
Suzanne Cassidy, MD , Professor, Division of Medical Genetics, Department of Pediatrics, University of California,
San Francisco
Presentation Learning Objectives:
1. Recognize the clinical findings of Prader-Willi syndrome in infants and children and their natural
history
2. Explain the 3 major causes of PWS and order appropriate testing
3. Appreciate the complexities of educating care providers and families in the international arena
Teaching Methodologies:
Presentation followed by a question and answer session.
Research or support materials:
None at this time.
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Presentation Title: PTEN-Informed Risk Assessment and Management
Charis Eng, MD, PhD
Genomic Medicine Institute, Cleveland Clinic
Department of Genetics and Genome Sciences, Case Western Reserve University
Presentation Overview:
Genetics can facilitate clinical diagnoses, surveillance, treatment, and prevention. Our interest lies in extending
these benefits to individuals with any of a collection of difficult-to-diagnose diseases termed PTEN Hamartoma
Tumor Syndrome (PHTS), conferring increased cancer risk. Subsets of Cowden syndrome (CS) and BannayanRiley-Ruvalcaba (BRRS) syndrome, that PTEN mutation positive comprise the largest proportion of PHTS. Prior
to 2011, there are no existing criteria based on large prospective patient cohorts to select patients for PTEN
mutation testing, on a clinical basis. To address these issues, we conducted a multi-center prospective cohort
study, where 3,042 probands minimally met relaxed NCCN clinical criteria (CS and CS-like individuals) were
enrolled. Germline PTEN mutation scanning was performed for all research participants. Germline pathogenic
PTEN mutations were found in 290 individuals (9.5%). To evaluate clinical phenotype and PTEN genotype
against protein expression, Western blotting (for expression of PTEN, P-AKT, P-MAPK1/2) was performed for a
subset of this series (N=423). In order to obtain an individualized estimation of pre-test probability of germline
PTEN mutation, we developed an optimized clinical practice model to identify adult and pediatric patients. For
adults, a semi-quantitative score, called the PTEN Cleveland Clinic (CC) score, resulted in a well-calibrated
estimation of pre-test probability of PTEN status. Overall, decreased PTEN protein expression correlated with
PTEN mutation status. Decreasing PTEN protein expression correlated with increasing CC score (p<0.001) but
not with the NCCN criteria (p=0.11). For pediatric patients, we identified highly sensitive criteria to guide
offering PTEN testing, with phenotypic features distinct from the adult setting. Our practice model-based
improved sensitivity and positive predictive value for germline PTEN mutation relative to the NCCN 2010
criteria. We present the first evidence-based clinical practice model to select patients for genetics referral and
PTEN mutation testing, which is additionally supported biologically by protein correlation. PTEN mutation
negative CS and CS-like individuals still comprise the majority of such patients. Approximately 10% of PTEN
mutation negative patients (0/700 controls) were found and validated to have germline SDHB-D variants,
which seem to have a higher breast cancer prevalence than those with PTEN mutations. Another 35% of PTEN
mutation negative CS/CS-like patients (but 0/50 controls) were found to carry germline hypermethylation of
the KLLN promoter. KLLN and PTEN share a bidirectional promoter, whereby KILLIN is a p53 target gene and
plays a role in S-phase apoptosis. Individuals with KLLN promoter hypermethylation seemed to have a higher
prevalence of breast and renal cancers than those with PTEN mutations. Thus, PTEN, SDHx and KLLN must be
considered with CS/CS-like presentations as gene-specific cancer risks differ which will guide different
management.
We also sought to formally determine component cancer risk in PHTS. Of 3399 prospectively accrued research
participants, 368 were found to carry germline pathogenic PTEN mutations. Elevated SIRs were found for
carcinomas of the breast (25.4, 95%C.I. 19.8-32.0), thyroid (51.1, 38.1-67.1), endometrium (42.9, 28.1-62.8),
colorectum (10.3, 5.6-17.4), and kidney (30.6, 17.8-49.4), and melanoma (8.5, 4.1–15.6). Estimated lifetime
risks were, respectively, 85.2% (95%C.I. 71.4%-99.1%), 35.2% (19.7%-50.7%), 28.2% (17.1%-39.3%), 9.0% (3.8%14.1%), 33.6% (10.4%–56.9%) and 6% (1.6%-9.4%).
We conducted a 7-year, multi-center prospective study (2005-2012) of CS and CS-like patients, all of whom had
comprehensive PTEN mutational analysis in order to determine the frequency of second primary malignant
neoplasms (SMN). Of the 2912 adult patients included in our analysis, 2024 had an invasive cancer history.
Germline pathogenic PTEN mutations (PTENmut+) were identified in 114 patients (5.6%). Of the 114, 46 (40%)
had a SMN. Risks of SMNs compared with the general population were significantly elevated for all cancers
(SIR7.74; 95%CI 5.84-10.07), and specifically for breast (SIR8.92; 95%CI 5.85-13.07), thyroid (SIR5.83; 95%CI
3.01-10.18) and endometrial (SIR14.08.07; 95%CI 7.10-27.21) SMNs.
8
Based on the risks of primary and second primary neoplasms, we propose a comprehensive multidisciplinary
approach to surveillance of patients with PTEN mutations.
Presentation Learning Objectives:
1. Review the basic principles of clinical cancer genetics
2. Explore the paradigm for clinical cancer genetics: PTEN-opathies
3. Analyze the data for PTEN-informed cancer and non-cancer risk assessment and medical management
Research or support materials:
1.
2.
3.
4.
5.
6.
7.
8.
9.
Nelen MR, Padberg GW, Peeters EAJ, Lin AY, van den Helm B, Frants RR, Coulon V, Goldstein AM, van
Reen MMM, Easton DF, Eeles RA, Hodgson S, Mulvihill JJ, Murday VA, Tucker MA, Mariman ECM,
Starink TM, Ponder BAJ, Ropers HH, Kremer H, Longy M, Eng C. Localization of the gene for Cowden
disease to 10q22-23. Nature Genet. 1996;13:114-116.
Liaw D, Marsh DJ, Li J, Dahia PLM, Wang SI, Zheng Z, Bose S, Call KM, Tsou HC, Peacocke M, Eng C,
Parsons R. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid
cancer syndrome. Nature Genet. 1997;16:64-67.
Zbuk K, Eng C. Cancer phenomics: RET and PTEN as illustrative models. Nature Rev. Cancer. 2007;7:3545.
Tan MH, Mester J, Peterson C, Yang Y, Chen JL, Rybicki LA, Milas K, Pederson H, Remzi B, Orloff MS, Eng
C. A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis
of a prospective study of 3042 probands. Am. J. Hum. Genet. 2011;88:42-56.
Tan MH, Mester JL, Ngeow J, Rybicki LA, Orloff MS, Eng C. Lifetime cancer risks in individuals with
germline PTEN mutations. Clin. Cancer Res. 2012;18:400-407.
Ni Y, Zbuk KM, Sadler T, Patocs A, Lobo G, Edelman E, Platzer P, Orloff MS, Waite KA, Eng C. Germline
mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes.
Am. J. Hum. Genet. 2008;83:261-268.
Ni Y, He X, Chen J, Moline J, Mester J, Orloff MS, Ringel MD, Eng C. Germline SDHx variants modify
breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependent
destabilization of p53. Hum. Mol. Genet. 2012;21:300-310.
Bennett KL, Mester J, Eng C. Germline epigenetic regulation of KILLIN in Cowden and Cowden-like
syndrome. JAMA. 2010;304:2724-2731.
Ngeow J, Stanuch K, Mester JL, Barnholtz-Sloan J, Eng C. Second malignant neoplasms in Cowden
syndrome patients with underlying germline PTEN mutations. J Clin Oncol 2014; 32:1818-24.
PTEN Scoring System: http://www.lerner.ccf.org/gmi/ccscore/
Gene Reviews: PHTS http://www.ncbi.nlm.nih.gov/books/NBK1488/
Support Groups:
http://www.ptenfoundation.org/
http://www.ptenworld.com/
http://ptenlife.com/
Teaching Methodologies:
Presentation followed by a question and answer session.
9
Presentation Title: Mitochondrial Disease Sequence Data Resource (MSeqDR)
Marni Falk, MD , Director, Mitochondrial-Genetic Disease Clinic, Children’s Hospital of Philadelphia, Assistant
Professor of Pediatrics, Division of Human Genetics, University of Pennsylvania Perelman School of Medicine
Presentation Overview:
Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium
Success rates for genomic analyses of highly heterogeneous disorders can be greatly improved if a large cohort
of patient data is assembled to enhance collective capabilities for accurate sequence variant annotation,
analysis, and interpretation. Indeed, molecular diagnostics requires data sharing to inform accurate
understanding of gene variants and phenotypes, which requires the establishment of robust data resources.
The “Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium” is a grass-roots effort facilitated
by the United Mitochondrial Disease Foundation to identify and prioritize specific genomic data analysis needs
of the global mitochondrial disease clinical and research community. A central Web portal
(https://mseqdr.org) facilitates the coherent compilation, organization, annotation, and analysis of sequence
data from both nuclear and mitochondrial genomes from individuals and families with suspected
mitochondrial disease. This Web portal provides users with a flexible and expandable suite of resources to
enable variant-, gene-, and exome-level sequence analysis in a secure, Web-based, and user-friendly fashion.
Users can also elect to share data with other MSeqDR Consortium members or even the general public, either
by custom annotation tracks or through use of a convenient distributed annotation system (DAS) mechanism.
A range of data visualization and analysis tools are provided to facilitate interrogation and improve
understanding of both genomic, and ultimately phenotypic, data that are relevant to mitochondrial biology
and disease. Currently available tools for nuclear and mitochondrial gene analyses include an MSeqDR
GBrowse instance that hosts optimized mitochondrial disease and mitochondrial DNA (mtDNA) specific
annotation tracks, as well as an MSeqDR locus-specific database (LSDB) that curates variant data on more than
1,300 genes that have been implicated in mitochondrial disease and/or are known to encode mitochondrialocalized proteins. MSeqDR is integrated with a diverse array of mitochondrial genome data analysis tools that
are both freestanding and incorporated into an online exome-level data set curation and analysis resource
(GEM.app) that is being optimized to support needs of the MSeqDR community. In addition, MSeqDR supports
mitochondrial disease phenotyping and ontology tools, and provides variant pathogenicity assessment
features that enable community review and feedback as well as integration with the public ClinVar resource
(http://www.ncbi.nlm.nih.gov/clinvar/). A centralized Web-based informed consent process is being
developed, as well as a Global Unique Identifier (GUID) system to integrate data deposited from different
sources. Community-based data deposition into MSeqDR has already begun. Future efforts will enhance
capabilities to incorporate phenotypic data that enhance genomic data analyses. MSeqDR will fill the existing
void in bioinformatics tools and centralized knowledge that are necessary for efficient nuclear and mtDNA
genome data interpretation by a range of shareholders across both clinical and research settings. Ultimately,
MSeqDR is focused on empowering the global mitochondrial disease community to better define and explore
mitochondrial disease.
Presentation Learning Objectives:
1. Explain background rationale and organization of MSeqDR Consortium
2. Describe the MSeqDR Prototype Development Project
3. Review MSeqDR Component overview and functionality
Teaching Methodologies:
Presentation followed by a question and answer session.
Research or support materials:
None at this time.
10
Presentation Title: Enhancer Elements: The next frontier of diagnostics.
Peter Scacheri, PhD, Associate Professor, Case Western Reserve University School of Medicine
Presentation Learning Objectives:
1. Recognize the importance of regulatory elements located outside protein coding genes.
2. Recognize that DNA mutations in enhancer elements can lead to human diseases
3. Recognize that many common diseases are caused by DNA variants that alter enhancer activity, leading to
disruptions in gene expression.
Teaching Methodologies:
Presentation followed by a question and answer session.
Research or support materials:
None at this time.
11
Presentation Title: Studying Common, Rare and Somatic Variation in the Human Genome at Scale
Stacey Gabriel, PhD, Director of the Genomics Platform, Broad Institute of MIT and Harvard
Presentation Learning Objectives:
1. Discuss current technological capabilities of genomic analysis
2. Explain the impact of genomic analysis on our understanding of the architecture of human variation
3. Discuss successes and challenges of whole exome sequencing in common disease and cancer
Teaching Methodologies:
Presentation followed by a question and answer session.
Research or support materials:
None at this time.
12
Presentation Title: A Dysmorphologist in the Genomics Era
Nathaniel Robin, MD, Professor of Genetics, University of Alabama
Presentation Learning Objectives:
1. Identify the indications for and benefits of making a genetic diagnosis
2. Describe the process of a genetics evaluation, with specific attention to assessment of minor
anomalies (dysmorphology)
3. Review the role of various types of genetic testing, and speculate on the impact of new technologies
Teaching Methodologies:
Presentation followed by a question and answer session.
Research or support materials:
None at this time.
13
Presentation Title: The Changing Landscape of Cancer Genetics
Georgia Wiesner, MD, Director, Clinical and Translational Hereditary Cancer Program, Professor of Medicine
Vanderbilt University
Presentation Learning Objectives:
1. List the principles of clinical cancer genetics
2. Recognize the differences between acquired and constitutional mutations in cancer
3. Discuss the use of next generation sequencing panels for cancer genetics diagnostics
4. Explore new paradigms for identifying patients at risk for cancer.
Teaching Methodologies:
Presentation followed by a question and answer session.
Research or support materials:
None at this time.
14
Presentation Title: The Evolution of Cytogenetics: The Beginning of the End or The End of the Beginning
Stuart Schwartz, PhD, Strategic Director of Cytogenetics, Cytogenetics Laboratory, Laboratory Corporation of
America
Presentation overview:
Cytogenetic analysis has evolved over the past 6 years and microarray analysis has become routinely
integrated, as a standard protocol, for pediatric patients referred with anomalies and/or developmental delay.
The purpose of a presentation is to highlight the basic technology, methodology and analysis underlying the
SNP genotyping array and to discuss it application to clinical practice. These studies demonstrate both the
effectiveness and efficacy of utilizing array analysis for the study of genetic abnormalities, including not only
copy number changes, but also uniparental disomy and consanguinity. Additionally the future of genetic
testing in pediatrics will be examined to look at its possible continue evolution.
Presentation Learning Objectives:
1. Explain the technology underlying SNP array analysis, to realize the importance in delineating small
copy number changes and to appreciate how the diagnosis of pediatric genetic disease will continue to
evolve.
2. Describe how array technology can detect both UPD and consanguinity and the importance of these
findings in clinical practice
3. Recognize the new microdeletion/duplication syndromes that have been delineated due to array
technology. To appreciate, based on the insight provided by SNP arrays, that in many instances
chromosome abnormalities are more complex than they have appeared to be based solely on
cytogenetic analysis.
Teaching Methodologies:
Presentation followed by a question and answer session.
Research or support materials:
None at this time.
15
Friday, November 7th
Time
8:45 – 9:30 am
9:30 – 10:15 am
10:15 – 10:30 am
10:30 – 11:15 am
11:15 am – 12:00 pm
12:00 – 1:00 pm
1:00 – 1:45 pm
1:45 – 2:30 pm
2:30 – 2:45 pm
2:45 – 3:30 pm
2014 Pauline Wilson Horner Genetics Symposium, From
Genetics to Genomics
Prader-Willi Syndrome, an International Perspective:
Diagnosis Makes All the Difference
Suzanne Cassidy, MD
PTEN-Informed Risk Assessment and Management
Charis Eng, MD, PhD
BREAK
Mitochondrial Disease Sequence Data Resource (MSeqDR)
Marni Falk, MD
Enhancer Elements: The Next Frontier of Diagnostics
Peter Scacheri, PhD
LUNCH
Studying Common, Rare and Somatic Variation in the
Human Genome at Scale
Stacey Gabriel, PhD
A Dysmorphologist in the Genomics Era
Nathaniel Robin, MD
BREAK
3:30 – 4:15 pm
The Changing Landscape of Cancer Genetics
Georgia Wiesner, MD
The Evolution of Cytogenetics: The Beginning of the End
or the End of the Beginning
Stuart Schwartz, PhD
4:15 – 5 pm
Panel Discussion
TOTAL CREDITS
Credits
.75
.75
.75
.75
.75
.75
.75
.75
.75
6.75
16