Graduate Research Project

Graduate Research Project

To facilitate professional growth and broaden the scope of genetic counseling expertise, the Indiana University Genetic Counseling Graduate Program requires students to complete a graduate research project. The student’s advisory committee and the research project coordinator will provide guidance with project development and ultimately approve the project completion. The advisory committee, selected by the student, shall consist of two department faculty members, a faculty member from an affiliated department or institution and a genetic counselor. This same advisory committee will meet with the student periodically regarding the progress of his or her graduate training.

Students’ graduate research projects will result in both a manuscript-style paper to be submitted to a relevant peer-reviewed journal and a departmental seminar delivered by the student to the faculty and staff of the Department of Medical and Molecular Genetics during the student’s final spring semester. The following is a brief overview of options for completion of the project requirement:

Option 1 – Clinical Research: Students choosing this option will identify a topic during the first year of the program. The project topic should contribute to the body of genetic counseling or clinical genetics knowledge.

Option 2 - Case Report with Literature Review: Students choosing this option will write a paper describing a unique or interesting case that includes a comprehensive literature/topic review.

Students are encouraged to submit their final research project product as an abstract to the National Society of Genetic Counselors' Annual Education Conference or other national genetics meeting.

During the student's first meeting with the advisory committee, timelines and specific requirements for the selected project option will be determined. Students will enroll in Q800 Medical Genetics Research for 1 credit during the final semester. The grade for this course will reflect the culmination of the project and seminar and is determined by each student's advisory committee and the research project coordinator.


Recent Projects:


Neonatal Marfan Syndrome: Report of Three Cases, A Novel FBN1 IVS Mutation, and Proposed Diagnostic Criteria

by Morgan Deno

A Post-Mortem Assessment of a 25-year-old Man with Ascending Aortic Dissection and a Novel MYLK Variant

by Katelyn Hodge

Electronic Technology in the World of Genetic Counseling: A National Survey of Genetic Counselors

by Sarah Huguenard

Autosomal Dominant POLG1 Mutation Causing MNGIE-Like Phenotype

by Erin O’Toole

NIPT and Informed Consent:  An Assessment of Patient Understanding of a Negative NIPT Result

by Julie Piechan

A Novel Disease-Causing Mutation in RBM10, Expanding the Phenotype of TARP Syndrome

by Shannon Sattler

Genetic Counseling Compliance Among Endometrial Cancer Patients with Possible Lynch Syndrome 

 by Sam Stachowiak



An Infant with Large Fontanelles, Aplasia Cutis Congenita, Tessier Facial Cleft, Polydactyly Inversus, and Toe Syndactyly: a Previously Undescribed Syndrome?

Jackson J, Delk P, Farrow E, Griffith C, Lah M, Weaver DD

Am J Med Genet A. 2015 Apr;167(4):683-7

PMID:  25708102

A 66 kb Microdeletion of 4p16.3: A Unique Cytogenetic Representation of Wolf-Hirschhorn Syndrome

by Lauryn Job

A Novel PAX6 Mutation in a Patient with Isolated Bilateral Peters Anomaly: Further Characterization and Review

by Kendra Mikulec

Atypical Rett Syndrome in a Sister and Brother: A Rare Familial Case With a c.397C>T (R133C) Mutation in the MECP2 Gene

by Kendra Schuler

Hydranencephaly in a Newborn with a FLVCR2 Mutation and Prenatal Exposure to Cocaine 

Soster EL, Tucker M, Escobar LF, Vance GH.

Birth Defects Res A Clin Mol Teratol. 2015 Jan;103(1):45-50

PMID:  25131804

Prenatal Diagnosis of Carpenter Syndrome: Looking Beyond Craniosynostosis and Polysyndactyly

Victorine AS, Weida J, Hines KA, Robinson B, Torres-Martinez W, Weaver DD 

Am J Med Genet A. 2014 Mar;164A(3):820-3

PMID:  24458945



Case Report of Mild Fumerase Deficiency: Support for Organic Acid Analysis for Patients with Nonspecific Features

by Corrie Bourdon

Two is Better Than One: A Case of Homozygous Myotonic Dystrophy Type 1

Carrol JM, Quaid KA, Stone K, Schubert F, and Griffith CB

Am J Med Genet A. 2013 Jul;161A(7):1763-7

PMID:  23704040

Positive Cell-Free Fetal DNA Testing for Trisomy 13 Reveals Confined Placental Mosaicism

Hall AL, Drendel HM, Verbrugge JL, Reese AM, Schumacher KL, Griffith CB, Weaver DD, Abernathy MP, Litton CG, Vance GH

Genet Med. 2013 Sep;15(9):729-32

PMID:  23492874

Genetic Counselors’ Experience With Cell-Free Fetal DNA Testing As A Prenatal Screening Option for Aneuploidy

Horsting JM, Dlouhy SR, Hanson K, Quaid K, Bai S, Hines KA

J Genet Couns. 2014 Jun;23(3):377-400

PMID:  24352524

A Case of Robin Sequence, Microgastria, Radiohumeral Synostosis, Femoral Deficiency, and Other Unusual Findings: A Newly Recognized Syndrome?

Roberts J, Torres-Martinez W, Farrow E, Stevens A, Delk P, White KE, Weaver DD

Am J Med Genet Part A. 2014; 164A:287-290

PMID:  24311538

A Qualitative Study of BRCA 1/2 Genetic Testing Experience: Predictors for Response and Thematic Analysis

by Kayla Smith



A case of multiple congenital anomalies including unusual ear nodules and finger contractures: a new genetic syndrome?

Morgan E Davis, Abby K Stevens, and David D Weaver  

Clinical Dysmorphology. 2012; 21:218-221

PMID:  22932444

Identification of Novel Heterozygous BBS1 and BBS10 Mutations in a Patient with Bardet-Biedl Syndrome: Case Report and Literature Review

by Ben Helm

Two decades of Huntington disease testing: patient's demographics and reproductive choicesSee comment in PubMed Commons below


Krukenberg RC, Koller DL, Weaver DD, Dickerson JN, Quaid KA

J Genet Couns. 2013 Oct;22(5):643-53

PMID:  23709094

The Use of a Reflective Writing Assignment and Concept Maps to Enhance Self-Awareness and the Importance of Psychosocial Issues in a Medical Genetics Course

by Leighann Rohrsen

Depression and Anxiety in Genetic Counselors

by Kristen Shipley

Deletion of Presumed Enhancer near DLX5 and DLX6 in a Patient with Craniofacial Defects, Hearing Loss, and Deletion of 7q21.3: A Case Report

by Katie Spoonamore

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