We are excited to announce a new Minor in Science and Patient Advocacy Fall 2021.


The purpose of the Minor in Science and Patient Advocacy is to provide interdisciplinary training in understanding disease at the molecular, genetic and clinical levels and use that information to help patients find treatments. This minor enhances the mission of Notre Dame to provide students with effective patient advocacy skills to facilitate resolution of medical and social issues faced by patients with rare diseases.

The program is based on foundational course work developed by faculty and staff at the Boler-Parseghian Center for Rare and Neglected Diseases (CRND). With the founding of CRND, Director, Prof. Kasturi Haldar, established the first undergraduate courses to incorporate in-class engagement with rare disease patients as well as student publications that globally serve patients, clinicians and researchers.  Prof. Barbara Calhoun, RN, NP, CRND’s Outreach Coordinator, greatly expanded the program to cover hundreds of rare diseases and created summer opportunities for patient advocacy with clinical research.  

According to Prof Calhoun, the undergraduate students were the driving force for the development of this minor.   “The rare disease clinical research courses have become very popular with pre-medical and science majors, and we have had to place students on waiting lists for the past 4 semesters’. In the words of Prof. Haldar, ‘the minor in Science Patient Advocacy provides an integrated framework that will provide students with needed skills to become effective Patient Opinion Leaders who have enormous influences in health outcomes at all levels in our society’. 

Program Requirements 2 Gateway Courses: BIOS 40450-3 credits and BIOS 40455 2 credits; Community Project-1 credit, 2 electives-6 credits total and Capstone Course BIOS 40565-3 credits. 

Prof. Calhoun is the Advisor and co-Director for the minor. Prof. Shaun Lee is a co-Director.  

To enroll or to be advised about the program, please contact Valerie Vargas, Program Coordinator at vvargas2@nd.edu 574-631-9734 to schedule a meeting with Prof. Calhoun.

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Latest EventsClinical Translational Seminar Series 2021-VIRTUAL. Schedule

Andrew Mesecar

Stanley Perlman

Click HERE for Stanley Perlman's virtual seminar

Anne Rowley

Joe D Flyer

Click HERE for the virtual webinar of Joseph DeRisi


Nkh Crusaders Conference On Oct 2Register for the 2020 NKH Virtual Conference to be held Friday, October 2nd

Zoom the Room for Gene Therapy to Cure NKH 

See how it works and sign up today!

Zoom The Room


VHL Publication

CRND’s 2020 publication on Von Hippel Lindau (VHL) syndrome led by Dr. Xin Lu, John and Mary Jo Boler Assistant Professor, was featured and rated as STORY OF THE WEEK by the VHL Alliance!

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Liu, F., Calhoun, B., Alam, S, Sun, M., Wang, X., Zhang, C, Haldar, K and Lu X. Case report: a synonymous VHL mutation (c.414A>G, p.Pro) causes pathogenic familial hemangioblastoma through dysregulated splicing.  Medical Genetics, Vo. 21, Article number:42 (2020).  https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7045488/

Congratulations to a unique collaboration between the Kiergan family and CRND researchers that reported on an ultra-rare mutation seen in the genome that is not predicted to change the encoded amino acid in the VHL protein. But the mutation acts by causing an error in RNA (the intermediate between DNA and protein) showing that this mutation whose significance was previously unknown, is truly pathogenic. 

Molecular research of the lead primary author Dr. Fang Liu (postdoctoral fellow) was integrated with clinical natural history studies by CRND Outreach Coordinator Barbara Calhoun, MSN, RN, PNP and also supported by others in Lu and Haldar labs (Dept. Biological Sciences).  We are grateful to the Kiergan family for generously providing medical records, medical images and skin biopsies for the research. VHL syndrome is a rare disease that results in abnormal growth of tumors that can develop in the central nervous system and elsewhere.

Rare Disease Day Conference 2020

Megan Speaking

Click HERE for RDD 2020 photo gallery

Patient Advocacy and Rare Disease Research Awards

CONGRATULATIONS Elena Kolarevic for receiving the Megan K. Crowley Award

 This award recognizes outstanding contributions in the areas of Rare Disease Patient Advocacy at the Boler-Parseghian Center. Such contributions may include, but are not limited to: 1) Raising awareness of Rare Diseases at the University of Notre Dame with regional, national and international organizations 2) Developing products/tools/technologies that help rare disease patients and their families with communications and disease management.  Awardees will receive a $1000 cash award and a plaque.

CONGRATULATIONS Danielle Terek for receiving the John M. and Mary J Boler Rare Disease Research Award

This award recognizes outstanding original scholarship and research in rare and neglected diseases at the Boler- Parseghian Center at the University of Notre Dame. Such contributions may include clinical or laboratory-based (basic or translational) research in rare and neglected diseases. Up to two Awards may be presented. Awardees will receive a $1000 cash award and a plaque.

Award nominations should be accompanied by:

  1. the student’s curriculum vitae;
  2. a one-page statement from the student summarizing the nominated work;
  3. a letter from the nominator that clearly explains significance of the work in the context of patient advocacy. 
  4. URL of Web pages/ other demonstrated evidence and supplementary information concerning the work. Nominations will be judged on the quality and impact of the student’s work.

Please also provide the following information:

  • The nominee’s mailing (and e-mail) address and phone number;
  • The nominator’s name, e-mail address and phone number;

Nominations to be submitted by  January 2, 2020 to bcalhoun@nd.edu

Congratulations to Dr. Xin Lu for receiving the prestigious awards from the Mary K. Foundaton and the Elsa U. Pardee Foundation!

Dr. Lu is the John M. and Mary Jo Boler Assistant Professor, Department of Biological Sciences, Boler-Parseghian Center for Rare and Neglected Diseases.  He received these awards for his work on developing novel strategies to target cancers.   Dr. Lu studies several different cancers, including rare cancers

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Check out what Nurse Practitioner, Barb Calhoun and research students have been working on at the Center!

Click on the picture below to watch the video. 


Check out Rare Disease Day 2019 photos! Click on the picture below. 


Raising awareness about Sickle Cell Disease in BIOS 60565 

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Congrats RareND Club!

Get involved with NORD (National Organization for Rare Disease) Student Club Programs 


Jim Mantey came to our BIOS 60565 Clinical Research in Rare, Neurological Disease Course! He shared his personal story with Kabuki Disease. We are honored! Thank you Jim!

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Pat & Lynda Sarb came to our BIOS 60565 Clinical Research in Rare, Neurological Disease Course! They shared their personal story with Non Ketotic Hyperglycemia (NKH). We are honored!

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Here at the Center students assess Rare Disease Patient medical records to identify pertinent symptoms of the disease. Records are summarized into concise 2-3 page Clinical Summaries that are used by patient families for future physician visits. It provides a detailed history that includes past office visits, hospitalizations, tests, procedures and treatments. Take a look at the students working with the Center below…

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Gabrielle O’Dougherty is a Senior undergraduate at the Boler-Parseghian Center for Rare and Neglected Diseases. She is currently conducting clinical research on Shprinzten- Goldberg Syndrome. This involves developing a natural history of the disease by delineating the disease progression over time and comparing various patients. She is currently working with a patient family and their medical professionals on creating a case report that will bring attention to newfound unique risks and symptoms in Sphrintzen-Goldberg Syndrome. She has done similar work with Nieman Pick Type C and Nonketotic Hyperglycinemia.

Lucie Ly is a rising senior at the University of Notre Dame. See what Lucie is working on currently below…

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‘Here at the Center, I am working towards a better understanding of the natural history of Neurofibromatosis Type-1 (NF1), a rare genetic disease that causes tumors to form in the brain, spinal cord, and nerves. Primarily, I’ve been going through the medical records of NF1 patients and making clinical summaries of the development of the disease, which will contribute to an educational database of rare disease cases used by health professionals, educators, as well as students. With this information, I have also been putting together a publication that addresses how NIH Guidelines for NF1 delays the








NKH Awareness Day!

Author: Barb Calhoun

Nkh Awareness 2021

NKH Families Raising Awareness through various activities 

Beginning April 26th, Everyone is welcome to learn, share and support NKH patients and their families.

Enter one of the raffles for wonderful prizes; read about patients and the strength and resilience of families; support them by joining in a Virtual NKH Walk-A-Thon MAY 2, 11:00AM 

Read More about NKH Awareness Day!