News

Undergraduate students publish research on the Von Hippel Lindau gene in highly cited international journal

Author: CRND

Yanting Luo Nd 20 And Louise Medina Bengtsson Nd 21

Yanting Luo (ND ’20) and Louise Medina Bengtsson (ND 21) are undergraduate co-first authors on their research on how defect in the Von Hippel-Lindau (VHL) gene causes renal cancer, published in Scientific Reports this month.  Photo shows Yanting and Louise presenting VHL research at the 2019 Midwestern Metabolism Meeting. Congratulations to both and their mentor Dr. Xin Lu, Boler Assistant Professor.…

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Welcome Dr. Christopher Patzke John M. and Mary Jo Boler Assistant Professor

Author: CRND

Christopher Patzke

Dr. Christopher Patzke joins CRND as John M. and Mary Jo Boler Assistant Professor.

Christopher Patzke studied Biology at the Freie Universität in Berlin and the École Normale Supérieure in Paris. He received his PhD training in the laboratory of Dr. Fritz Rathjen at the Max-Delbrück-Center in Berlin and his postdoctoral training at the Stanford University in the laboratory of Dr. Thomas Südhof.…

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New penile cancer therapy by Lu Lab

Author: Provided

Xin Lu 700

Penile squamous cell carcinoma (PSCC) although rare in the US, contributes to a larger proportion of cancers in countries with developing economies.  A major barrier has been the lack of a good animal model to better understand and develop treatments for the disease.  In a paper published in Nature Communications https://www.nature.com/articles/s41467-020-15980-9.pdf

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Request for Nominations: Patient Advocacy and Rare Disease Research Awards

Author: Barb Calhoun

All current undergraduate students in their senior year may be nominated. 

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.…

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

Author: Provided


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.…

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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.…

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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

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In Honor of the late Dr. Stanley Falkow

Author: Plos Pathogens

Stanley Falkow2 690x320

Ralph Isberg, Editorial Advisor and former Section Editor for PLOS Pathogens, remembers his friend, colleague, and mentor Stanley Falkow, and reflects on his contributions to the understanding of bacterial pathogens and his commitment to mentorship.

When I first entered the Falkow lab as a postdoctoral fellow in December 1983, I possessed a strange combination of naivete and arrogance that played to Stanley’s strengths.  This allowed him to shut down the still and extremely small voice in his head that said: “Maybe this is a bad idea.” Only after success occurred, and I imagine only very rarely, did he ever reveal evidence of this voice.…

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Follow up on Rare and Neglected Disease Day 2018

Author: Barb Calhoun

This year’s Rare Disease Day Conference started strong on Friday, February 9th, with exceptional research talks along with patient perspectives on the importance of research for Rare Diseases. NonKetotic Hyperglycinemia, Rare Cancers, Cystic Fibrosis and Niemann Pick Type C were some of the research topics presented. Sadly, Saturday was cancelled due to a snow blockade, but we present great highlights from Friday below.…

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RareND Chipotle Fundraiser

Author: RareND

RareND

Needing another excuse to go to Chipotle? Bring your friends next Tuesday to raise money for rare disease awareness and education!! Half of your purchase will go to RareND. Just show the cover photo of this event at checkout or tell them you're there for the RareND fundraiser!

Visit the facebook event link for more information:…

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