Characterizing the Phenotype of Williams- Beuren S yndrome in - - PowerPoint PPT Presentation
1 Characterizing the Phenotype of Williams- Beuren S yndrome in Diverse Populations Katherine Pardo 1,2 , Paul Kruszka, M.D. 2 , Maximilian Muenke, M.D. 2 University of Virginia 1 ; Medical Genetics Branch, National Human Genome Research
Katherine Pardo1,2, Paul Kruszka, M.D. 2, Maximilian Muenke, M.D. 2 University of Virginia1; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health2
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Response to many non-Caucasian populations having limited access to
geneticists and are underrepresented in medical and genetic research.
Addressing the notion that discrepancies in racial and ethnic background
have posed a widespread challenge to phenotypic diagnosis.
Will contain photographs and molecular diagnoses of individuals from
diverse geographic locations.
Will serve as a tool for clinicians in diagnosing syndromic disorders by
promoting the association of congenital malformations with syndromes.
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Often determined to be de novo
and occasionally hereditary
Dist inct ive facies Intellectual disability S
upravalvular aortic stenosis
Pulmonary arterial stenoses Hypercalcemia Dental malformation Unusually outgoing and trusting
personality
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yndrome: a multisystem disorder resulting from a chromosomal abnormality.
Figure 1. Chinese female with positive clinical diagnosis.
population: retrospective study. Hong Kong Med J. 2004 Feb;10(1):22-7. PubMed PMID: 14967851. 1.
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population: retrospective study. Hong Kong Med J. 2004 Feb;10(1):22-7. PubMed PMID: 14967851.
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Face2Gene uses Bayesian net works t o assess t he probabilit y of
having a syndrome. Gestalt: heat maps display the most distinguishable facial regions
Red: strong similarity to a syndrome Blue: absence of similarity to a syndrome
Feature: facial proportions are obtained and compared against a
continually developing database.
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individuals from diverse populations.
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S ensitivity= Number of True Positives
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Number of True Positives + False Negatives X 100
yndrome lacks definition in underprivileged non-Caucasian populations due to the small amount of reported cases.
Beuren S yndrome in Caucasians are consistent with found in non-Caucasian individuals.
diagnostic confirmation only and should not be used as a primary diagnostic method.
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Williams-Beuren S
yndrome in individuals from diverse populations is under-represent ed in the medical literature.
The considerable precision of FDNA analysis using
Face2Gene technology and its efficient improvement mechanism is indicative of its potential as a valuable resource to clinicians.
This research will potentially enhance the quality and
accuracy of diagnosing Williams-Beuren S yndrome in individuals.
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yndrome in diverse populat ions from Asia, S ub-S aharan Africa, Lat in American, and t he Middle East .
syndromic diagnoses not including Williams-Beuren S yndrome t o furt her st at ist ical analysis.
unrelat ed clinicians.
Face2Gene t echnology on individuals wit h a wide variet y of syndromes.
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Many t hanks go t o t he generous donors t o t he College S cience S cholars program who make t hese summer research awards possible: Charles Henry Leach, II, Foundat ion, Mr. S t eve Van Besien; Ent igence Corporat ion; Lois A. Fit t on & W. Christ opher Draper, Jr.; S haron B. Parent e & John W. Risner; The Jefferson Trust ; Robert At kinson; Lowe Family; Dean’s discret ionary gift s. I sincerely t hank Dr. Muenke and Dr. Kruszka for providing me wit h t he life-changing opport unit y of researching at t he Nat ional Inst it ut es of Healt h, and Professor S chmidt , Professor Epst ein, and Professor Demas for providing me wit h t he inspiring scient ific foundat ion t hat got me t here.
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