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
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:
- the student’s curriculum vitae;
- a one-page statement from the student summarizing the nominated work;
- a letter from the nominator that clearly explains significance of the work in the context of patient advocacy.
- 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 email@example.com
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
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
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!
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!
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…
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…
‘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
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