Updates

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

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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 

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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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A Greenville, SC resident, Eric OSullivan speaks of his son, Drake Rayden OSullivan, and his fight against time to find a cure for his terminal disease called NKH. Please join our fight..before it is too late.

DrakeRaydenFoundation.com 

Click below to listen to the O’Sullivan’s story. 

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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

 

 

 

 

 

 

News

Megan K. Crowley Award for Patient Advocacy | John M. and Mary Jo Boler Rare Disease Research Award

Author: Corianne Kellems

Megan K. Crowley Award for Patient Advocacy

 

Congrats to Megan K. Crowley! Megan received the Megan K. Crowley Award for Patient Advocacy, whose recipient Megan Crowley, ND ’19 is a tireless patient advocate and President of the Notre Dame Chapter of Make a Wish Foundation that aims to grant a wish of every child diagnosed with a life threatening condition. CRND is honored Megan came to study at Notre Dame.…

Read More about Megan K. Crowley Award for Patient Advocacy | John M. and Mary Jo Boler Rare Disease Research Award

A Bi-Annual Newsletter for the Non-Ketotic Hyperglycinemia Rare Disease Community & Beyond

Author: Fighting for Fiona & Friends

Dear NKH Supporters,

We’re excited to share a new family initiative taken on by the Fitzpatrick, Nohelty, and Sarb families - a bi-annual newsletter for the NKH community.

The goal of the newsletter is three-fold, to: 1) to share information, 2) increase awareness and 3) together, accelerate progress in the fight against NKH.…

Read More about A Bi-Annual Newsletter for the Non-Ketotic Hyperglycinemia Rare Disease Community & Beyond