Monthly Archives: March 2012

Mary Dunkle, NORD. The Role of the Rare Disease Patient Community.

Summary by Marisa Truong.

On March 9, 2012 we had the pleasure of inviting Mary Dunkle, VP of Communications at the National Organization for Rare Disorders (NORD) come speak to the Rare Health Exchange (RHE) class and Center for Rare and Neglected Diseases (CRND) faculty. The focus of Mrs. Dunkle’s seminar was the role of the rare disease patient community and how NORD helps facilitate that.

NORD is a non-profit organization that was established in 1983 by patient advocates who supported the Orphan Drug Act. It represents all Americans who have or are affected by a rare disease and provides support to patient services organizations (PSOs) as well as patient groups who do not have an official PSO. They help provide education tools for patients, students, physicians, and anyone working in the health care field that cares for rare disease patients. They also help mentor patient organizations increase awareness, connect to physicians, find current clinical trials to participate in, and find research projects they can raise money for.

A few current advocacy initiatives NORD is involved with include the Transforming the Regulatory Environment to Accelerate Access to Treatment (TREAT) Act, which is an act that will aid in accelerating the process of patient access to getting new treatments or life-saving technologies. Another initiative they support is Prescription Drug User Fee Act (PDUFA) which is a law allows the FDA to collect fees from drug companies who want the FDA to review their product. The bill must be approved this year so NORD is very excited to be involved with its process.

Aside from legislation initiatives, NORD has made many efforts to educate health care professionals in order to improve the care for rare disease patients. They have created a NORD Physician Guide ( to provide educational resources to health care physicians make the diagnoses process as quick and effective as possible. Along with educating health professionals, they provide grants to researchers at universities to start new research in rare diseases. The seed grants they provide play an important role in accelerating the process towards developing new drugs and therapies.

Most importantly, NORD serves and supports the whole rare disease community of the US and has collaborative links to many national and international rare disease organizations around the globe. In the US, they hold regional conferences every year for patients to learn about the research being done in the area of their rare disease, meet with other patients to share their experiences and expand their support group.

This summary only highlights a few of the tremendous efforts NORD has made for the rare disease community. They have done incredible work over the years and we hope to continue to work with them in the future. The students all appreciate the opportunity to learn about more ways they can become involved in advocacy initiatives for rare disease patients. In order to learn more about NORD and how you can be a part of advocating for the rare disease community, please visit their website

Marc Patterson M.D. Mayo Clinic. An Introduction to Neurometabolic Disease

Summary by Marisa Truong.

On March 2nd, we were honored to have Prof. Marc Patterson, MD visit our Rare Health Exchange (RHE) class to give the students and other faculty of the Center for Rare and Neglected Disease (CRND) and give a talk entitled, “An Introduction to Neurometabolic Diseases”. Patterson is a renowned physician at the Mayo Clinic working on Niemann-Pick Type C (NPC) disease and other lysosomal storage disorders.

The presentation started off with a short quiz to test the audience’s current knowledge of lysosomal disorders.  A copy of the questions asked can be seen here.  Dr. Patterson’s lecture focused on the following three things: familiarizing the audience with the classification of neurometabolic diseases, helping students distinguish between the presentations of small and large molecule diseases, and emphasizing the clinical aspects of diagnosing a neurometabolic disease.

Inborn errors of metabolism are genetic disorders in which there is an absence or malfunction of a gene product that then disrupts regular metabolic processes.  These gene products include enzymes, structural proteins, transporters, channel constituents, receptors, and transcription and translation factors.  The mechanism by which gene products malfunction can be attributed to various reasons including, but not limited to loss or gain of function, impaired regulation of protein expression, and other downstream effects.

Metabolic disorders can be classified into three categories: small molecule diseases, large molecule diseases and complex diseases.  Small molecule diseases in one series had an incidence rate of 24/100,000 and range from mild episodic dysfunction to severe life threatening neonatal cases.  Some examples of small molecule diseases are amino acidopathies, urea cycle defects and fatty acid oxidation defects.  Large molecule diseases have an incidence rate of 16/100,000 and present with progressive neurodegeneration, organomegaly, dysostosis, coarsening, ocular changes, and cutaneous lesions.  Examples of large molecule diseases include sphingolipidoses, mucolipidoses, and the neuronal ceroid  lipofuscinoses.  Complex diseases involve errors in the transcription and translation of DNA, and of co- and post-translational modification that cause multiple downstream effects.  Symptoms of these diseases include features of both large and small molecule diseases.  Examples of complex diseases are congenital disorders of glycosylation and Cockayne syndrome.  In aggregate, the total incidence rate of neurometabolic diseases is estimated to be at least 1/2,500.  Thus, collectively, these diseases are relatively common and should be recognized as a global problem.

For the undergraduates about to enter the health care field in a few years, Dr. Patterson highlighted the importance of clinical care and gave advice on how to thoroughly assess a patient and look for clues to help with the diagnosis process.  Firstly, the medical history of a patient can give a lot of insight into what a patient might have.  Knowing if there is an at risk population, the history of the child during pregnancy, the neonatal period during infancy, and dietary preferences of the child is all key information that will help physicians.

The physical examination is also equally important in a clinical visit.  Dr. Patterson advised the students to perform a complete exam, including a general assessment of the child’s appearance, which can provide numerous clues to reach a diagnosis.  He then guided the students through a series of photos with patients presenting with different metabolic disorders and pointed out abnormalities with the patient’s physical features to help students recognize certain features of different diseases.

In addition to the history and physical exam, many laboratory tests can provide large amounts of data to assist in the diagnoses process.  Some frequently employed diagnostic and screening tests include blood work, urine samples, skin biopsies, and MRI’s.  However, when this generation of students complete medical school, many of these tests will have been supplanted by direct sequencing of the whole exome or genome as the initial diagnostic test. Biochemical testing will then be employed to test the significance of DNA sequence changes. Professor Patterson stressed to the students that it is always important to keep up with the latest diagnostic technology, but also to keep in mind that advances are always accompanied by trade offs, since every test has limitations sensitivity and specificity.

Perhaps the most important point of Prof. Patterson’s talk he was his emphasis that “no disease is untreatable. “ There is always a way to treat and help everyone improve their quality of life.  In order to do this we must educate the patient and their network of family, friends, and caregivers of the nature of the patient’s disease and how to alleviate the patient’s symptoms through nutrition, fitness, or emotional support.  There are specific therapy plans that target prevention through genetic screens, definitive therapies such as replacing definitive enzymes, and other downstream interventions.

We are very grateful to Prof. Patterson for taking the time to educate and inspire the minds of these undergraduates.  They learned a lot and we hope they carry this advice on with them in their future careers in the health care field.

University of Notre Dame’s Rare Disease Day Dinner

By Kasturi Haldar and Marisa Truong. All photo and video credits Will Wall.

The Center for Rare and Neglected Diseases (CRND) hosted a dinner in celebration of Rare Disease Day on Wednesday, February 29th, 2012 5.30-7.30 pm. About 100 people were in attendance including faculty and students and other members of the rare disease community at Notre Dame and in South Bend. A major focus was increasing awareness of rare diseases. We launched (i) Rare Health Exchange (RHE), a student collaborative against rare diseases (ii) the world premier of the Rare Disease Fight Song. Included in the audience were at least 25 students who had no prior interactions with CRND.

The dinner began with distribution of Rare Awareness Quiz developed by our students, Natalie Bott ’12 and Jennifer Van Trieste ’12, both founders of RHE. The guests attempted the quiz over dinner. You may try a part of the quiz here to test your knowledge of rare diseases. This difficulty level of the quiz really highlights the need to increase awareness for rare diseases. Dr. Marc Patterson M.D. Mayo Clinic, an internationally, leading pediatric neurologist and rare disease expert, who visited through our Clinical Translational Seminar Series on March 2, 2012, is the only person we know who got 100% with only a couple of guesses! On Rare Disease Day, our guests worked on the quiz in groups as a table over dinner and submitted a paper version for a chance to direct a $300 donation to a PSO of their choice.

The evening’s events started off with a presentation by Dr. Kasturi Haldar, Director of CRND, giving an overview of Rare Health Exchange’s history. It was provided opportunity to reflect on generous collaborators that have made RHE possible, thank them for their continual work, guidance, and support to improve our efforts as well as seek additional collaborations to move forward in 2012-2013.

Following this, Marisa Truong, Program Coordinator of CRND, introduced the launch of the Rare Health Exchange website in order to alert our guests that the site will go live by mid March and welcome direct input from our guests on the history, development, and goals of our project.

Dr. Pamela Tamez, Director of External Programs of CRND, then engaged the guests in an interactive activity to test their knowledge about rare diseases based on the quiz that they took over dinner. A short clip of our activity can be seen here. Although it was challenging, our guests as a whole were able to come up with the right answer for many (greater than 50%) of the questions! At the end of this activity we announced the night’s winner of the Rare Awareness Quiz. Table 11 ended up being the night’s winner with an impressive score of 12/20! So congratulations to the following students: Michael Clark, Brian Argus, Samantha Chamberlain, Eric Hinterman, Shawn Rajendram, and Katie Heit for their good work! They will be directing a $300 donation to the National Niemann Pick Disease Foundation (NNPDF).

Our dinner closed with a performance by the University of Notre Dame’s Glee Club. We are grateful to them for the world permier of the Rare Disease Fight Song. They also performed a moving repertoire to conclude the evening. We thank the world famous Glee club, Michael Clark, their President and another student founder of Rare Health Exchange!

Check out the video below to see Notre Dame’s Glee Club perform our very own Rare Disease Fight Song!