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Undiagnosed and Rare Disease Clinic

The Undiagnosed and Rare Disease Clinic, directed by Erin Conboy, MD, was launched in January 2020. Patients include those who likely have a rare undiagnosed disease that has a high likelihood of a genetic cause. This program is focused mainly on pediatrics, but patients may be any age, from newborns to those with adult-onset disorders. Patients have likely been seen by multiple providers and had extensive testing done, but still have not received conclusive results about their condition. Specific expected symptoms include: multiple congenital anomalies, abnormalities (that you can see on physical exam or as internal organ malformations), patients with severe developmental delays, severe autism, severe seizures, or Mendelian disorders (involving one specific gene).

Patients meet with the medical geneticist and genetic counselor, who conduct a detailed review the patient’s health history, family history and previous genetic testing. Patient samples are obtained at this visit for genome sequencing, RNA sequencing and metabolic testing. The genome sequencing is processed, analyzed and interpreted with the help of Emedgene, a genomic interpretation platform that incorporates advanced artificial intelligence which combines the use of detailed phenotypic information and genomic annotations present in databases. The genomic variant analysis and interpretation is completed by a multidisciplinary team who discuss the final interpretation before making recommendations in a final report. 

A multidisciplinary team called the Genome Board includes clinical providers, laboratorians and researchers who review the cases and this initial genomic report, RNA and biochemical analyses to help determine if an underlying cause of the patient’s symptoms can be found. Genome Board is held every other Friday at 11am. Please contact Nicole Johnson to be added to the Genome Board invitation list.

The Undiagnosed and Rare Disease Clinic is currently funded by an IU Precision Health Initiative grant.

Join the Genome Board

Please contact Nicole Johnson to be added to the Genome Board invitation list.

Email Nicole Johnson

Undiagnosed and Rare Disease Clinic helps family find answers

 

The Edwards family knew their youngest daughter, Jordan, was struggling with some kind of health issue. Jordan was having trouble with feeding and was barely gaining any weight. After visits to different doctors and testing, their journey led them to the new Undiagnosed and Rare Disease Clinic.

The specialized team at the clinic was able to finally give this family answers. They performed genetic testing on each member of the family and discovered Jordan has a rare genetic disorder that impacts her feeding abilities. Turns out, her mother and older sister have a mild form of the disorder as well.

Undiagnosed and Rare Disease Clinic in the news

 


The Undiagnosed and Rare Disease Clinic was featured by FOX59.

Undiagnosed and Rare Disease Clinic Team

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Erin Conboy, MD

Assistant Professor of Clinical Medical and Molecular Genetics

Erin Conboy studied biology at Grinnell College in Iowa, then medical school in Hersey, Pennsylvania and finally finished her training at Mayo Clinic in Rochester, Minnesota. She is a clinical and metabolic genetics physician and pediatrician with a special interest in the diagnosis of rare disease. She is the director of the Undiagnosed Rare Disease Clinic at IU School of Medicine and IU Health. She has two sons and enjoys practicing Brazilian Jiu-jitsu with her family.

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Kayla Treat, CGC

Genetic Counselor

Kayla Treat is a pediatric genetic counselor with IU Health and IU School of Medicine. She enjoys seeing a wide variety of clinical indications in the general genetics clinics. She graduated from the IU Genetic Counseling Graduate Program in 2013 and initially accepted a pediatric genetic counseling position at Washington University School of Medicine in St. Louis where she worked in several multidisciplinary clinics at St. Louis Children’s Hospital. She moved back to Indianapolis in October 2014 to accept her current position, and she has loved seeing the growth of the department over the past several years. In 2019 she accepted a new role within the department as the genetic counselor with the Undiagnosed and Rare Disease Clinic. This role felt like a natural fit given her interest in complex genetic syndromes, and she looks forward to seeing the expansion of the clinic over time. She also enjoys working as a clinical supervisor for the IU Genetic Counseling program and recently transitioned to a role as co-course instructor for the medical genetics clinical rotations.

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Francesco Vetrini, PhD

Visiting Clinical Assistant Professor of Medical & Molecular Genetics

Francesco Vetrini, PhD, joined the Department of Medical and Molecular Genetics in 2018 as a fellow in the ABMGG Laboratory Genetics fellowship program, now completed. Currently, as visiting assistant professor, he holds a dual appointment as leader of clinical genomic services of the Undiagnosed and Rare Disease Clinic and co-director of the Department of Medical and Molecular Genetics Covid-19 Testing Laboratory.

Dr. Vetrini earned his doctorate in medical genetics at the Second University Naples (Italy) and completed a postdoctoral fellowship at Baylor College of Medicine, Houston, TX. During his PhD studies and later as post-doc/senior scientist, he gained extensive experience in both in vitro and in vivo models of genetic disorders, gene therapy with viral vectors for metabolic disorders and neurodegeneration.

Before joining the Department of Medical and Molecular Genetics, he worked at Baylor Genetics as a clinical genomics scientist, leading a team involved in clinical NGS data analysis, interpretation, and variant curation.

Over the past few years, he has been involved in novel disease gene discovery and characterization and has collaborated with UDN and other international institutions aimed at the characterization of molecular mechanisms underlying novel rare genetic syndromes.

As the leader of clinical genomic services of the Undiagnosed and Rare Disease Clinic, his major focuses are the development of protocols for genomic assessment of patients by integrating genomics and transcriptomics, the development of collaborations for functional studies of candidate genes and variants, co-leading the medical genetics genome board with Dr. Erin Conboy.

Dr. Vetrini’s overarching goal is to end the diagnostic odyssey for patients and families by using an integrated multi-omics approach, which not only will improve our understanding of the molecular basis of genetic disorders but will ultimately improve patient care while providing the families with definitive answers.

As co-director of the department's Covid-19 Testing Laboratory, Dr. Vetrini oversees the operational and personnel management of the lab, tracks performance data and metrics, performs troubleshooting, leads/assists research projects, and validates proficiency testing. In his free time, he enjoys reading, playing guitar and mandolin, and spending time with his family in outdoor activities.

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Tae-Hwi L. Schwantes-An, PhD

Assistant Research Professor of Medical & Molecular Genetics

Dr. Schwantes-An is a genetic epidemiologist whose work focuses on understanding and identifying genetic underpinnings of complex human diseases. He received his PhD from Washington University in St. Louis and completed his postdoctoral training at the National Human Genome Research Institute at National Institutes of Health. He serves as a co-leader of bioinformatics team for Undiagnosed and Rare Disease Clinic. He is an assistant research professor in the Department of Medical and Molecular Genetics and in the Division of Cardiology in the Department of Medicine.

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Amy M. Breman, PhD

Associate Professor of Clinical Medical & Molecular Genetics

Dr. Amy Breman, originally from Fort Wayne, Indiana, is not only a laboratory director in the IU Genetics Testing Laboratories, but also an alumni of the Department of Medical and Molecular Genetics. Dr. Breman graduated with her bachelor’s in biology from Purdue University, and continued her education at IU School of Medicine where she earned her PhD in medical and molecular genetics in 2007.

After graduation, she moved to Houston to join Baylor College of Medicine as a fellow in the Department of Molecular and Human Genetics, where she worked in the research lab of Dr. Arthur Beaudet and later became board certified by the American Board of Medical Genetics and Genomics (ABMG) in the specialty of Clinical Cytogenetics. In 2011, she became an Assistant Professor at Baylor College of Medicine and a laboratory director of cytogenetics at Baylor Genetics labs. During her 10 years with Baylor Genetics, she advanced to Division Director of the Chromosomal Microarray Laboratory and Training Director in Cytogenetics for the ABMGG fellowship program.

Dr. Breman returned to her home state of Indiana in 2018 to join the IU Genetic Testing Laboratories as a co-director of the cytogenetics lab. Since then she has worked to expand prenatal diagnostic testing at our institution and supports the Undiagnosed and Rare Disease Clinic with analysis of genome sequencing data. She has recently completed additional training in the molecular genetics specialty and is currently an active candidate for ABMGG certification in Clinical Molecular Genetics.

When Dr. Breman isn’t in the lab analyzing data or educating trainees about cytogenetics, she enjoys camping, biking, gardening and spending time with her husband, two children, one dog and one cat (all boys!).

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27429-Hodge, Jennelle

Jennelle C. Hodge, PhD

Associate Professor of Clinical Medical & Molecular Genetics

Dr. Jennelle C. Hodge, PhD, is ABMGG certified in both clinical cytogenetics and clinical molecular genetics through the Harvard training program and has practiced these specialties since 2007. She is a director in the Cytogenetics and Molecular Genetics Laboratories at IU School of Medicine and an associate professor in the Department of Medical and Molecular Genetics. Dr. Hodge is involved in national leadership efforts at the American College of Medical Genetics and Genomics (ACMG), the Cancer Genomics Consortium (CGC), and the Association for Molecular Pathology (AMP). She is an author on over 40 research publications in journals such as Cancer Research, Journal of Molecular Diagnostics, Human Molecular Genetics, Modern Pathology, Molecular Psychiatry, Nature Genetics, and the American Journal of Human Genetics. Dr. Hodge also reviews manuscripts for 17 human genetics journals, has developed nine sessions including two short courses for national meetings, and is the editor-in-chief of a genomics-based cancer case interpretation resource called the Compendium of Cancer Genome Aberrations (CCGA.io). Her current interests include applying NGS for rare disease diagnosis as part of the Undiagnosed and Rare Disease Clinic with the goal of constitutional NGS testing validation in the clinical laboratory and engagement in genotype/phenotype research collaborations to benefit current and future patients.

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Brett H. Graham, PhD, MD

Associate Professor of Medical & Molecular Genetics

Dr. Graham obtained his MD and PhD from Emory University and then moved to Baylor College of Medicine (BCM) and Texas Children’s Hospital for clinical residency training in pediatrics and clinical fellowship training in medical genetics. After a postdoctoral research fellowship, he joined the faculty of the Department of Molecular and Human Genetics at BCM and rose through the ranks to Associate Professor, where he was an active member of BCM’s NIH Undiagnosed Disease Network (UDN) team. He moved to Indianapolis in 2017 to join the Department of Medical and Molecular Genetics as an  associate professor and associate director of clinical genetics. Dr. Graham’s research laboratory is focused on studying mitochondrial biology and disease using models in both mouse and fruit fly. In his clinic, Dr. Graham evaluates and manages patients with medical genetic problems and inborn errors of metabolism.

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Marco Abreu

Bioinformatician

Marco Abreu studied biochemistry and chemical biotechnology at East Stroudsburg University in Pennsylvania, then studied bioinformatics at Virginia Commonwealth University in Virginia. He is currently a bioinformatician for the Department Medical and Molecular Genetics Department at IU School of Medicine. He enjoys serving his dog and cat overlords.

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Nicole Johnson

Administrative Assistant

Nicole Johnson is an administrative assistant with several years of experience in the university/educational setting. Nicole earned a bachelor’s of science degree in health care administration from the University of Phoenix. In addition to several other programs and responsibilities, Nicole specializes in supporting the day-to-day administrative responsibilities for the director, associate directors and residents for the Medical Genetics Residency program in the Department of Medical and Molecular Genetics.

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Mimi Lengrich

Clinical Research Coordinator

Mimi Lengrich is a 1996 graduate of Purdue University, West Lafayette, IN. Lengrich started a career as a professional social worker serving the chronically mentally ill population for over eight years, then as an investigator for Child Protective Services for nearly three years. After completing several semesters of nursing school, Lengrich started working in clinical research at IU School of Medicine in 2007. Lengrich has worked as a research assistant, research specialist and certified clinical research coordinator in the areas of rheumatology, oncology, dermatology and genetics. Lengrich has a passion for working with patients in a research realm and enjoy navigating them through research studies and is excited to be a part of the Undiagnosed and Rare Disease Clinic and Dr. Conboy’s research with the patients in this clinic as it is providing a much-needed avenue for patients with undiagnosed rare diseases.

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Whitney Jaunzemis

Clinical Research Coordinator, Indiana Biobank

Whitney Jaunzemis got her degree in recreation sport management with a concentration of youth leadership at Indiana State University. She is the clinical research coordinator for the Indiana Biobank. She supports the sample collections within the Undiagnosed and Rare Disease Clinic. She loves going on walks, exercising and traveling with her husband.

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Brooke Patz

Program Manager, Indiana Biobank

Brooke Patz studied biology at Butler University, then obtained her masters in bioethics from Indiana University. She is the program manager for the Indiana Biobank and associated programs. She supports the sample collections within the Undiagnosed and Rare Disease Clinic. She has three children, two daughters and a son, and enjoys taking them on walks to the park.

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Eric P. Hanson, MD

Associate Professor of Pediatrics

Eric P. Hanson, MD, received his bachelor’s in biomedical engineering at Brown University, post-baccalaureate training in basic immunology research studying Severe Combined Immunodeficiency at NIH, and MD degree at the University of Pittsburgh. He subsequently completed his residency in pediatrics at St. Christopher’s Hospital for Children in North Philadelphia and subspecialty training in rheumatology at the Children’s Hospital of Philadelphia.

During fellowship, Hanson pursued translational research and clinical immunology training by undertaking a project to better study and understand a rare genetic primary immunodeficiency called NEMO Syndrome. Hanson then joined the faculty at the National Institutes of Arthritis, Musculoskeletal and Skin Diseases in Bethesda, MD, where he completed postdoctoral training, ran a clinical trial, and established a diagnostic and evaluation program to study individuals with complex immune dysregulation syndromes that predominantly affect the NF-kB signaling pathway.

His research has more recently focused on understanding biochemical and molecular mechanisms by which inflammatory disease is triggered and persists in a chronic state. In addition to ongoing genetic discovery research involving human subjects, his lab is developing several knock-in mouse models and in vitro model systems to investigate pathophysiology and novel therapeutic approaches to these diseases.

In addition to lab PI, Hanson is also the division chief of pediatric rheumatology at IU School of Medicine and Riley Hospital for Children, one of the pre-eminent training programs in the country.

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20447-Helm, Benjamin

Benjamin M. Helm, CGC

Assistant Professor of Clinical Medical & Molecular Genetics

Benjamin Helm is a genetic counselor with specific interests in cardiovascular genetics, congenital malformations, rare diseases, and public health genomics. Helm's work is with the cardiovascular genetics program at IU School of Medicine, including the development of cardiovascular genetics services for outpatient and inpatient settings tailored to specific diseases. Based on clinical experiences, Helm's interests are varied: inherited arrhythmias, cardiomyopathies, congenital cardiovascular malformations, and familial hypercholesterolemia. Helm has also developed interests in the genetic architecture of inherited cardiovascular diseases and malformations, specifically in exploring multifactorial etiologies and polygenic risk scores for predicting disease.

Research Interests: polygenic risk stratification/scores for inherited cardiovascular disease, familial hypercholesterolemia (FH), lipoprotein A, congenital cardiovascular malformations, sudden unexplained/cardiac death and post-mortem genetic testing, public health genomics, rare diseases, genomics applications, genetic epidemiology

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Dongbing Lai, PhD

Assistant Research Professor of Medical & Molecular Genetics

Dongbing Lai is a statistical geneticist. His research interests are searching for genes related to common and rare diseases, and understanding how these genes cause diseases. These include using genomic data (genome-wide genotype data, whole exome sequencing data, and whole genome sequencing data) to perform genetic studies and identify disease causing genes; then using other omics data (transcriptomics, methylomics, metabolomics, etc.) to investigate the roles of these genes in disease causing.

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Vinaya Murthy, MS, MPH

Assistant Professor of Clinical Medical & Molecular Genetics

Vinaya Murthy is an experienced genetic counselor who joined IU School of Medicine in 2021 in a new role to advance genomic medicine education and initiatives. She had been working as a genetic counselor and in management at Kaiser Permanente Northern California for the past 15 years. She has worked in public health genetics, all areas of genetic counseling, and community genetics education with a special interest in cancer and health equity research. She has a Master’s in Public Health Genetics from the University of Washington and MS from the University of Pittsburgh's Genetic Counseling program. She is currently working on a PhD in Translational Health Sciences through The George Washington University School of Medicine and Health Sciences. She is supporting the Undiagnosed and Rare Disease Clinic as part of her role in the Department of Medical and Molecular Genetics.

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