Walk for NKH Sept 7th- Jordan Hall  South Lawn   Donate here!  


 

Final Fff Walk For Nkh

           


           

       

 

 


Congratulations to Danielle Terek, ND'20 for publishing the first Spinal Muscular Atrophy with Respiratory Distress type 1 (SMARD1) disease summary in the NORD database!



 

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Danielle Terek published the first disease summary for SMARD1 for the National Organization of Rare Disorders (NORD) database!  https://rarediseases.org/rare-diseases/spinal-muscular-atrophy-with-respiratory-distress/   She conducted extensive review of literature, assessed patient medical records and worked with a local SMARD patient family to develop the report, which was then reviewed by internationally established expert clinicians prior to publication in the NORD database. 

The NORD database  gets approximately 1 million visits per month!   Notre Dame students from BIOS 40450 and BIOS 60565 undertake editorial internship to support this extensive rare disease database for over 3000 rare diseases. It presents an invaluable resource for patients and families, clinicians, researchers and other advocates from all over the world.   Well done Danielle! 

Supported by the BIll and Lisa Powers Family Fund

 


Congratulations to Gabrielle O'Dougherty ND '19 for publication in the American Journal of Case Reports!

Gabrielle O'Dougherty is the recipient of the  2019 John M. & Mary Jo Boler Research Award.

Title: Case Report: Complications of Insufficient Dura and Blood Loss during Surgical Intervention in Shprintzen-Goldberg Syndrome.

Authors: Gabrielle R O'Dougherty, Daniel H Fulkerson, Melissa Kern, Kasturi Haldar, Barbara Calhoun.

Supported by the Bill and Lisa Powers Family Fund


CONGRATULATIONS TO OUR 2019 GRADUATES!

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             Megan K. Crowley, Recipient                                                   Gabrielle O'Dougherty, Recipient

              2019 Megan K. Crowley Award for Patient Advocacy                              2019 John M. & Mary Jo Boler  Rare Disease Research Award

 

Updates

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. 

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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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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


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