The Seventh Class in Developing Health Networks in Rare & Neglected Diseases |
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(Above) April 27, 2012 - Over 50 students completed the seventh class in Developing Health Networks in Rare and Neglected Diseases. |
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CRND Newsletter - April 2002 |
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The new issue of CRND's Signal (vol 1, is 4) covers World Diseases Day 2012 and the launch of the RAREhealth Exchange, Cell's publication of a significant malaria discovery by ND scientists, Dr. Jeff Schorey's Gates award for tuberculosis research, a review of CRND Data Club presentations, the White-Richardson family visit to the CRND seminar course, Dr. Bilgicer's work on allergy research, and a spotlight piece on Dr. Bhattacharjee who led the work on malaria work published in Cell.
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CRND Clinical-Translational Seminar Series - Dr. Marc Patterson |
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March 2, 2012 - Marc Patterson, M.D. Chair - Division of Child and Adolescent Neurology, Professor of Neurology, Pediatrics and Medical Genetics, Director - Child Neurology Training Program Mayo Clinic. Dr. Patterson is board certified in psychiatry and neurology (with special qualification in child neurology and in neurodevelopmental disabilities). Dr. Patterson is on the Scientific Advisory Board for the National Niemann-Pick Disease Foundation.
At some point or another, most of us realize the frailness of the bark upon which we sail. For many, steeped in a cultural denial of death and blessed with good health, this realization comes late. But, in the realm of rare diseases, the awakening to pure vulnerability often comes at an early age and well before the 72 years Hunton had secured when he wrote this verse. When this awakening comes, it often appears as an “unknown tide” – in waves of unanswered questions and grief. Then, it is vital, not to sink into hopelessness or denial, but as another poet sets it, “to take arms against a sea of troubles.” 1 In our species, we first take up arms against the dark and unanswered troubles by naming them and pushing away speechless sorrow. The great botanist and father of classification, Carolus Linnaeus, was called “God's registrar” and he wrote about the significance of classification, which always begins at the boundary of the unknown deep:
On March 2, Dr. Marc Patterson visited the students and faculty of the CRND and delivered a seminar, which would have pleased old Linaeus, “An introduction to neurometabolic disease.” Last year, Patterson taught an in-depth class on NP-C disease; this year, he placed NP-C in the broad framework of metabolic diseases of the nervous system, focusing on the common characteristics which substantiate the working classification:“inborn errors of metabolism (IEMs).” This delicate phrase names the general class of more than 5,000 distinguishable disorders, which are now visible and subject to relational analysis and systematic experimentation. |
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Research News |
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Dr. Jeff Schorey (left), Professor of Biological Sciences, Steering Committee member of the Center for Rare and Neglected Diseases, Associate Director of the Eck Institute for Global Health.
Dr. Jeff Schorey receives funding from The Bill and Melinda Gates Foundation. As part of the Grand Challenges in Global Health initiative, the Bill and Melinda Gates Foundation has created a new grant program to identify biomarkers for diagnosing tuberculosis. Dr. Jeff Schorey along with Dr. Karen Dobos at Colorado State University and collaborators at the University of California at San Francisco received one of only ten funded projects.
The team has been funded to develop exosomes for TB diagnostics. Exosomes are vesicles or sacs that contain protein and other cellular material and function in intercellular communication. They make attractive targets for diagnostics because they can be found in many different bodily fluids (so samples can easily be taken) and when isolated from TB patients, contain specific components from the pathogen. In related work, Schorey and colleagues also found that exosomes make good vaccine candidates as they contain specific TB proteins that stimulate the human immune system. Tuberculosis is caused by the pathogen Mycobacterium tuberculosis and although there are antibiotics that can treat most cases of TB, many patients still go untreated. This is due in part to the limited sensitivity of current diagnostic test. Surprisingly nearly half of all TB cases go undiagnosed. |
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 (Left) Electron micrograph of exosomes isolated from the serum of a TB patient In 2007 through a serendipitous discovery, Schorey and his team detected bio-signatures from the TB pathogen that were released from infected cells on exosomes. Through a collaboration with Dr. Karen Dobos the team identified pathogen-associated signatures from TB-infected patients. The purpose of the grant awarded through the Biomarkers for the Diagnosis of Tuberculosis is to define biomarkers that can identify active TB patients and to begin developing a detection platform that can be used as a point-of-care diagnostic test for TB. By Dr. Pamela Tamez, CRND Director of External Programs. |
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Rare Health Exchange Launch Day |
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February 29, 2012 - The Rare Health Exchange (RHE) website launches. RHE is a web-based student collaboration to advance research, education, advocacy and patient support for the rare disease community. The RHE initiative has been supported from incubation to launch by a diverse group of sponsors including the Deans of the Colleges of Science and Engineering, the Office of the Vice-President of Research, the FISH non-profit organization, the Center for Social Concerns and the leadership of the CRND. Visit the Rare Health Exchange website. |
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Discovery in Malaria Research |
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January 20, 2012 New Malaria Discovery Published In Top Life Sciences Journal - CELL
(Left to right - Drs. Kasturi Haldar, Souvik Bhattacharjee, and Robert Stahelin) |
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Notre Dame researchers report fundamental malaria discovery A team of researchers led by Kasturi Haldar and Souvik Bhattacharjee of the University of Notre Dame's Center for Rare and Neglected Diseases has made a fundamental discovery in understanding how malaria parasites cause deadly disease. The researchers show how parasites target proteins to the surface of the red blood cell that enables sticking to and blocking blood vessels. Strategies that prevent this host-targeting process will block disease. The research findings appear in the Jan. 20 edition of the journal Cell, the leading journal in the life sciences. The study was supported by the National Institutes of Health. Malaria is a blood disease that kills nearly 1 million people each year. It is caused by a parasite that infects red cells in the blood. Once inside the cell, the parasite exports proteins beyond its own plasma membrane border into the blood cell. These proteins function as adhesins that help the infected red blood cells stick to the walls of blood vessels in the brain and cause cerebral malaria, a deadly form of the disease that kills over half a million children each year. In all cells, proteins are made in a specialized cell compartment called the endoplasmic reticulum (ER) from where they are delivered to other parts of the cell. Haldar and Bhattacharjee and collaborators Robert Stahelin at the Indiana University School of Medicine- South Bend (who also is an adjunct faculty member in Notre Dame's Department of Chemistry and Biochemistry), and David and Kaye Speicher at the University of Pennsylvania's Wistar Institute discovered that for host-targeted malaria proteins the very first step is binding to the lipid phosphatidylinositol 3-phosphate, PI(3)P, in the ER.
This was surprising for two reasons. Previous studies suggested an enzyme called Plasmepsin V that released the proteins into the ER was also the export mechanism. However, Haldar, Bhattacharjee and colleagues discovered that binding to PI(3)P lipid which occurs first is the gate keeper to control export and that export can occur without Plasmepsin V action. Further, in higher eukaryotic cells (such as in humans), the lipid PI(3)P is not usually found within the ER membrane but rather is exposed to the cellular cytoplasm. Haldar and Bhattacharjee are experts in malaria parasite biology and pathogenesis. Stahelin is an expert in PI(3)P lipid biology, and David and Kaye Speicher are experts in proteomics and a method called mass spectrometry. Their interdisciplinary collaboration reveals a fundamental, novel cellular function, whose disruption can provide new therapies that are urgently needed for malaria. Contact: Kasturi Haldar, khaldar@nd.edu Originally published on ND Newswire by Pamela Tamez and William Gilroy |
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About The Center for Rare and Neglected Diseases
Science for Society
Around the globe, people are suffering and dying from diseases that have generally been ignored by major pharmaceutical companies because the potential financial rewards for developing new drugs and vaccines to treat them are insignificant. These are the rare and neglected diseases of the world. There are thousands of rare diseases, typically defined as those, which afflict less than 200,000. Among them are cystic fibrosis, thalassemia, Niemann-Pick C disease, and several of the rare forms of cancer. Neglected diseases, by contrast, can affect billions, but like their rare counterparts, have been ignored by researchers. This is especially prevalent in the developing world and in pockets of grinding poverty in developed nations, where the populations suffering from illnesses such as tuberculosis, malaria, and lymphatic filariasis do not have the money to buy drugs and vaccines, giving pharmaceutical companies little incentive to develop treatments that cost far more than could ever be recouped through reasonable prescription prices. The result is a gaping hole in healthcare—one which Notre Dame is uniquely positioned to fill.
Rare Diseases: those which afflict less than 200,000. Examples are cystic fibrosis, thalassemia, Niemann-Pick Type C Disease, adrenolekodistrophy and several forms of cancer.
Neglected Diseases: diseases of poverty, lymphatic filariasis disease pathologies of TB and Malaria.
Where We Are:
University of Notre Dame
Center for Rare and Neglected Diseases
Galvin Life Science Building
Notre Dame, IN 46556
Email at: crnd@nd.edu
Phone (574) 631-3372
Fax (574) 631-9788
© University of Notre Dame
