One major family of peptide bacteriocins produced by bacteria are the TOMMs (thiazaole-oxazole containing modified microcins), exemplified by the hemolytic toxin known as Streptolysin S (SLS). In addition to our research efforts on the mechanims of SLS function, my research program at the University of Notre Dame continues to study mechanisms of bacteriocin production and function in diverse microorganisms, along with their roles in influencing microbial dynamics. Lysosomal storage diseases are ~50 rare inherited disorders that result from defective function of lysosomes, cellular compartments that break down large molecules (like proteins, lipids and complex sugars). We reflected on a remarkable dual partnership, with John Crowley providing the historical context and his family’s story and Dr. We also recognized those who participated in the first CRND research competition and Dr. The winners will receive a $1,000 cash prize and a plaque recognizing their outstanding achievements in rare and neglected diseases research.
On Tuesday April 28, 2015, the Notre Dame RareND club gathered for dinner at Five Guys restaurant at Eddy St. The second decade of the 21st century has been infused with optimism for malaria eradication.
University of Notre Dame researchers led an international team to identify a molecular mechanism responsible for making malaria parasites resistant to artemisinins, the leading class of antimalarial drugs.
Artemisinins are powerful drugs that have the most rapid action of all current drugs against Plasmodium falciparum, the parasite species that causes the most dangerous form of malaria. Although artemisinins have been widely used and investigated, no one fully understood how they worked or why clinical resistance has emerged.
When asked about the next steps for this research, Bhattacharjee said, “There are presently two options for overcoming artemisinin resistance.
The ninth annual College of Science Joint Annual Meeting (COS-JAM) well be held in the Jordan Hall of Science on Friday, May 1, 2015, as part of the eighth Undergraduate Scholars Conference. Two new papers from the lab of CRND Professor Zach Schafer, Coleman Assistant Professor of Cancer Biology at the University of Notre Dame, offer insights into how breast cancer cells avoid anoikis, which is cell death induced by detachment from the extracellular matrix (ECM). The Boler-Parseghian Center for Rare and Neglected Diseases recently held a two-day Rare Disease Symposium (February 13-14) and invited researchers, patients, families, physicians, and advocacy groups to speak about their personal experiences with rare diseases.
Organized by Barbara Calhoun, nurse practitioner and outreach coordinator for the Boler-Parseghian Center, the event featured research presentations as well as discussion panels focused on patient experiences. Thanks to the RareND student club, the State of Indiana now proclaims February 28th, 2015 as Rare Disease Day. Niraja Suresh, Francisco Fields, Stefan Freed, Katelyn Carothers, Micah Ferrel, Matthew Krusen, Dr. The Clinical and Translational Seminar Series organized by CRND hosted a presentation by Dr.
On Thursday March 6th, a group of students from Lake Shore Middle School student council visited Notre Dame to learn about rare diseases. The Center for Rare and Neglected Diseases welcomes Barb Calhoun as the new outreach coordinator.
The Center for Rare and Neglected Diseases (CRND) and the Rare Health Exchange (RHE) celebrated World Rare Disease Day on Saturday, Feb. Several attendees shared their experiences in open forum focused on living with rare diseases.
Cindy Riemersma came with her 21 year old daughter, Jyl, who was diagnosed with Glucose Transporter Deficiency Syndrome at the age of four. A major theme that emerged from the discussion was that all of the patients and families present had taken ownership of their situations and worked tirelessly to get the answers and treatments they needed because information and resources are much more limited with rare diseases.
The second research session focused on rare cancers, which are often difficult to diagnose and have a poor prognosis. Mike Hamerlik, CEO of WPS Health Insurance joined one of the patient family representatives to explain how new health insurance laws will impact rare disease patients. You can also view here a short version of the video CRND made with the Smith family in 2011. On December 12th, 2013, Tylor White-Richardson passed away after a brave battle with Niemann-Pick Type C (NP-C) disease. The Center for Rare and Neglected Diseases announced the launching of the computer aided molecular design (CAMD) core facility.
In spring 2011, the CRND launched two pilot projects to assist drug and insecticide discovery and development.
Pilot funds are available for investigators who have not used computer assisted molecular design, but feel it will assist with their research.
On Saturday February 23rd, CRND organized a daylong event to commemorate World Rare Disease Day. The second part of Salgame's talk looked at research on co-infections of MTB and helminthic parasites. Following her seminar, the gracious Director of Graduate Medical Research for the University of Medicine and Dentistry of New Jersey warmly welcomed graduate students in Drs.
Undergraduate students are invited to meet with ND Energy researchers in small groups the week of April 4-8. Chernobyl’s nuclear power plant disaster in 1986 still represents a haunting nightmare. Each year, on the Friday of reading days, the University of Notre Dame provides several venues to showcase and celebrate the depth and breadth of the research being conducted by undergraduates in all disciplines across campus. At that point, we mostly focus on the development of the EMR (Electronic Medical Record) and on its various impacts on the common functioning of the Healthcare Ecosystem as a whole. We already anticipate that our collaborative work will evaluate thanks to our preparation work during the coming 2012 seminar that will raise new topics and new questions!
However, sifting through these data to extract meaningful biological information is the challenge of early 21st Century biomedicine.
It is characterized by parasite sequestration, inflammatory cytokine production, vasoconstriction and vascular leakage. Plasma HRPII accumulates in the blood of patients with falciparum malaria and is a diagnostic and prognostic marker.


These bioactive epoxides are hydrolyzed by epoxide hydrolases, converting them into inactive diols. Peptides that are produced ribosomally by bacterial organisms are broadly known as bacteriocins. We have identified biochemical strategies that allow for the production of diverse artificial bacteriocin libraries in high yield. Hung Do presenting the recent science data on the effect of combining chaperones with enzyme replacement therapy in preclinical models.
Each application is then evaluated by independent reviewers with appropriate expertise and scored in four categories pertinent to research training and productivity. Although the impact of malaria is still significant, the statistics reflect a considerable reduction in the global malaria burden. Laboratory studies showed that artemisinins were always active against the mature parasite stages that sequester in tissues, but clinicians were observing resistant infections from patients who were still in early stage of infections. This work was supported by the National Institutes of Health, the Parsons-Quinn Endowment and Notre Dame International.
The intent of COS-JAM is to highlight the achievements of undergraduate students conducting research in all disciplines of science. The symposium anticipated Rare Disease Day, recognized worldwide on the last day of February.
The work, which is supported by the Boler-Parseghian Center for Rare and Neglected Diseases, focuses on inflammatory breast cancer (IBC), a rare malignancy with poor prognosis and a high mortality rate. Kasturi Haldar and Dean Greg Crawford (College of Science) during the dedication ceremony, Saturday Oct. Zach Schafer, Biological Sciences, has recently received a grant from the American Cancer Society to continue ongoing work in his lab on breast cancer research. Stahelin is a Professor of Biochemistry and Molecular Biology at the Indiana University School of Medicine-South Bend also an Adjunct Associate Professor of Chemistry and Biochemistry at Notre Dame.
Robert Stahelin talks with the Notre Dame Alumni Association about his research on the treatment of the Ebola virus.
Guillermina Estiu, spouse of Guillermo Ferraudi of the Rad Lab, passed away on Friday, May 9th 2014 after several months of illness.
The students had lunch with Dean Greg Crawford (College of Science) and toured the Notre Dame campus.
Muriel Finkel of the Amylodosis Support Groups Inc., a member of the National Organization of Rare Diseases, stressed the importance of service organizations that cater to specific rare diseases.
Shaun Lee, assistant professor of biological sciences, and Tony Serianni, professor of chemistry and biochemistry, described their research collaboration on Sanfilippo syndrome, a disease which prohibits an enzyme from properly breaking down complex sugars. This panel was particularly informative to the families who have traditionally had few options when it comes to health insurance. Basar Bilgicer was recently featured in a news article describing his lab’s latest publication. Bilgicer , who serves on the CRND steering committee, is an assistant professor at the Notre Dame department of chemical and biomolecular engineering and holds an appointment in the department of chemistry and biochemistry.
Robert Stahelin for being selected as an Inaugural Showalter Scholar by the Indiana University School of Medicine. The first arose as a need for computational analysis of the results from a screen of chemical libraries from Eli Lilly & Co to discover and develop new drugs against the malaria parasite. Guillermina Estiu, a research assistant professor (Chem & Biochem) will be the managing director of the CAMD core.
The event brought together Notre Dame researchers and students with physicians, patients and their families to discuss the everyday challenges and the most recent breakthroughs in managing rare diseases. Salgame described her investigation into the pathogenesis of both diseases in co-infection, particularly how the effects of the immune responses related to one infection effects the progression of infection in the other disease. Champion and Lee's class for lunch and a relaxed discussion on a variety of topics (see photo below of the students with Dr.
Learn about their work and what life as a researcher is like through informal conversation and lab tours where applicable. Candidate, CEEES Tessa Clarizio, Undergrad, CEEES Free Reusable starbucks cups will be given to attendees - coffee and bagels provided. Whether measured by human and environmental impact, engineering challenge, or overall cost, this accident represents the world’s worst-ever nuclear facility failure, with a radiation release estimated at ten times higher than Fukushima. To participate in research and scholarship is to contribute to important conversations taking place in a range of academic and creative fields.
In this presentation, I will discuss our recent studies to identify the specific genetic changes that endowed Y. The gap between the data that we have, and the useful information we extract from it is growing exponentially. For that reason, computational biologists have developed methods that consider many other attributes in the sequence's data and metadata.
Using a human cerebral microvascular endothelial blood-brain barrier (BBB) model, we have found that HRPII activates the inflammasome, resulting in decreased integrity of tight junctions and increased permeability. We have identified and characterized two epoxide hydrolases (EH) of Plasmodium falciparum, PfEH1 and PfEH2. These bacteriocins comprise a large class of peptide families that have been shown to be effective as antibiotics, food preservatives, anti-infectives and anti-cancer therapeutics.
Cassandra Buchheit the winners of the CRND award for Excellence in Rare and Neglected Disease Research.
Pardee Foundation, the Coleman Foundation and the American Cancer Society, as well as graduate fellowship support to Cassie from CRND. As part of this organized activity, the restaurant donated a percentage of its profits from that day to the club. Since 2010, disease transmission has been reduced by 30 percent and mortality due to malaria has decreased by almost half. These diseases are emotionally hard to cope with, so it is important for patients and families to find others who struggle with the same illnesses for support.


Throughout the semester, the students read, present and discuss papers by the visiting speakers, and get a chance to meet with each visiting scholar over pizza.
During their visit at CRND, Notre Dame students from the RareND club demonstrated how difficult it can be for rare disease patients to find diagnosis and expert care through an interactive game.
Suhail Alam (Haldar lab) introduced the students to his research in Niemann-Pick Type C (NPC) disease, which is a neurodegenerative rare disease that affects children and teens.
These organizations can help connect patients to resources, such as treatment options, counseling and other patient families. In addition, Cassandra Buchheit, a graduate student in biological sciences who works with Zachary Schafer, Coleman Assistant Professor of Cancer Biology, spoke about her work with a rare inflammatory breast cancer that is often misdiagnosed as an infection.
Tylor and his family helped Notre Dame undergraduates better understand NP-C from a patient perspective and learning the challenges of having a rare disease.
The event, which is open to the public, was designed to give a voice to all the different groups involved with panels that interact with the audience.
The first part of her lecture disclosed her lab's examination of both innate and acquired immune responses to Mycobacterium tuberculosis (MTB) and the role of T-regulatory cells. A model pathogen is an organism that is extensively researched with the hope that discoveries about its biological functioning may also be extrapolated to understand the workings of similar organisms. George Dimopoulos presented his cutting-edge seminar for CRND to a delighted gathering of faculty and students whose research is focused in infectious diseases and global health. Based on the GULL model from the freeware software world, we will slowly move to a knowledge factory. Intravenous administration of HRPII induces vascular leakage in the brains of mice, tight junction protein redistribution and increased early mortality from P. With rapid advances in genomics and natural product discovery, we are currently seeing a tremendous 'explosion' in the identification and use of these ribosomally produced bacterial peptides for drug development. This osmotic change was characterized by SLS-mediated disruption of the major erythrocyte anion exchange protein, Band 3. Since it gained its club status by the SAO, RareND has been engaged in a number of activities on and off campus to raise awareness among ND students and in the community at large for rare diseases. Unfortunately, resistance to artemisinin has been detected in five countries across Southeast Asia. Adding to that, IBC does not present itself as a typical cancer, and is often mistaken for an infection, leading to incorrect treatment.
A discussion between the visiting students and Notre Dame researchers demonstrated how interested and enthusiastic they are about learning and raising awareness for rare diseases.
In addition, Barb will be working closely with Notre Dame Students involved in the Rare ND club and Dr. His outgoing personality and sense of humor helped all of us at CRND to see the importance of seeking treatments no matter the challenge. Salgame highlighted some of what is and is not known about the functioning of the tuberculosis granuloma, memory T-cells, and biosignatures associated with individual adaptive immune responses and the susceptibility to infection.
Grese addressed a problem that is all too familiar to investigators in rare and neglected diseases research; the lack of financial incentives for the drug industry to invest in finding therapeutics for small or poor populations and the lack of resources available to non-profit universities to advance major projects in drug development.
Dimopoulos pointed out the key role targeting the vector had played in elimination over 100 years.
To help solve this problem, we formed a consortium of the Critical Assessment of Function Annotations, a community effort to improve prediction of function from protein sequences.
Following a strong showing for Notre Dame day, the Five Guys fundraiser will help support the club activities in spreading the word about rare diseases. This Notre Dame-led study identified both the target of artemisinins in the clinically affected ring stages and how a gene named PfKelch13, a dominant marker used to track the parasite’s resistance, causes artemisinin resistance. She has difficulty running because of the way her legs have formed and other children are starting to notice. We heard from patient families about the challenges of having a member with a rare disease and possible ways to address these challenges.
The new model for collaboration described by Grese can allow universities to use Lilly resources for their academic research into areas such as drug design, data analysis, and assay development. Dimopoulos's discoveries in vector control at Johns Hopkins Malaria Research Institute are very exciting because of their potential to use the mosquito's own immune system and gut microflora as means of attenuating its transmission of deadly diseases, namely malaria and dengue fever.
In the second illustration, Dimopoulos described the emerging growth pattern of dengue fever. In addition, I will describe how the acquisition of a single gene encoding the outer membrane Pla protease enabled Y.
We propose that HRPII is a virulence factor that contributes to cerebral malaria by compromising BBB integrity.
Phillip described the unique journey of taking the process of drug discovery from a simple concept based in rational design in the test tube and following through all the way to studies in humans. GPCRs are crucial proteins in human health, targeted by approximately 40% of all drugs currently on the market.
According to Dimopoulos, his group works on understanding the processes of infection and immune response to both diseases, in projects that are distinct, but synergistically related.
Zachary Shafer’s lab, demonstrates a new mechanism by which the cancer cells are able to detach and invade other parts of the body.
This effort, which pulled in the expertise of a number of collaborators, has resulted in a promising new strategy for treating malaria, a disease that affects more than 300 million people globally and results in nearly a million deaths annually. Carrie Quinn, MD, along with ND students, touched on some ethical questions that face physicians and patients in managing rare diseases.
The event was successful in bringing together diverse groups who share the common goals of raising awareness and finding cures for rare diseases. We look forward to more publications from the Schafer lab that will continue to shed light on rare cancers and push forward the development of therapies.



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