Capture

Updates

Congrats RareND Club!

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

Capture


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!

20170811 112815

Img 0946

Img 0950


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!


Img 0895


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. 

Capture


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…

A3f7bc9c 32e4 476f Aec9 A91ad41db8b8 

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…

13105823 838141409629002 850632774 O

‘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 diagnosis of infants who show anterolateral bowing of the tibia but have not yet developed other characteristics of the disease by focusing on a unique case. Finally, I am working on


In honor of Rare Disease Day, February 28th

Alone we are rare, together we are strong


Click on the photo below to view photos from Rare and Neglected Disease Day Conference

Capture


Rare and Neglected Disease Day 2018 Agenda is out! 

Click below for full schedule

Rare And Neglected Disease Day 2018

 

 

 

 

 

 

News

Boler-Parseghian Center for Rare and Neglected Diseases “Catalyst Program” RFA 2018

Author: Corianne Kellems

Submission Deadline: Dec 10th, 2018 5:00 PM
Earliest Start Date. March 1, 2019.

 

The Boler-Parseghian Center for Rare and Neglected Diseases’ ‘Catalyst Program’ solicits proposals in biomolecular medicine directed toward critical treatment targets and/or processes of drug failure in cell, tissue, organismal and human systems in rare and neglected diseases

Read More about Boler-Parseghian Center for Rare and Neglected Diseases “Catalyst Program” RFA 2018

Models for Accelerating Academic Rare Disease Research and Innovation: A Working Session Hosted by Notre Dame

Author: College of Science

20181011 200945

An interactive working session hosted by Notre Dame to explore how universities can accelerate rare disease research and discovery through innovation, entrepreneurship and cross-sector partnerships.

Co-chairs: 
John Crowley, Chairman and CEO of Amicus Therapeutics and Founding Board Member of Global Genes

Read More about Models for Accelerating Academic Rare Disease Research and Innovation: A Working Session Hosted by Notre Dame