Carolina Barnett-Tapia, MD, PhD
July 08, 2020

The Myasthenia Gravis Rare Disease Network (MGNet) has awarded the 2020 MGNet Pilot Award to Carolina Barnett-Tapia, MD, PhD, Assistant Professor, Department of Medicine (Neurology) and Institute of Health Policy, Management and Evaluation, University of Toronto. Dr. Barnett-Tapia specializes in patient-centered outcomes in neuromuscular disorders, researching patients’ perspectives on their symptoms and treatments.

Tiina K. Urv, PhD
July 01, 2020

When the Rare Diseases Clinical Research Network (RDCRN) awards for the fourth funding cycle were announced early last fall, we couldn't have imagined the challenges ahead due to the COVID‑19 pandemic. Through teamwork and determination, the RDCRN continues to focus on clinical trial readiness, sharing high quality data, cross-network collaborations, and supporting our community during COVID‑19. Read the latest updates from Tiina K. Urv, PhD, Program Director of the Office of Rare Diseases within the National Institutes of Health's National Center for Advancing Translational Sciences.

CURED
June 25, 2020

With the creation of the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR, U54 AI117804) in 2014, patient advocacy groups (PAGs) were formally incorporated into the unified infrastructure to facilitate research on EGIDs. A notable champion in this process has been the Campaign Urging Research for Eosinophilic Disease (CURED), a PAG that has earned a name in the EGID community for their generosity in helping others. As a partner of CEGIR since its creation, CURED has contributed in many ways, serving on committees, helping to recruit patients, practicing and teaching advocacy, and financially supporting CEGIR in its missions including its Pilot Programs and Career Enhancement (Training) activities. CURED's generosity is not only to help others but to fund CEGIR with $25,000 per year; these funds are used for a number of CEGIR research activities at the discretion of CEGIR. These activities may include partial funding for the Career Enhancement Core (Training Program) and Research Pilot Studies.

Amanda Guidon, MD
June 12, 2020

The Myasthenia Gravis Rare Disease Network (MGNet) has awarded the 2020 MGNet Scholar Award to Amanda Guidon, MD, a neuromuscular neurologist at the Massachusetts General Hospital and an Assistant Professor of Neurology at Harvard Medical School.

Brain Vascular Malformation Consortium (BVMC)
June 11, 2020

In patients with cavernous angioma (CA), lesions in the brain are caused by imbalances in the gut microbiome, according to a new study in the journal Nature Communications. Data from the Brain Vascular Malformation Consortium (BVMC) helped researchers make this connection, the first of its kind in any human neurovascular disease.

Paneez Khoury, MD, MHSc
June 04, 2020

APFED and CEGIR have awarded a 2020 co-funded pilot grant to Paneez Khoury, MD, MHSc, of the @National Institute of Allergy and Infectious Disease’s Human Eosinophil Section, for a promising research study that will provide the first examination of gastric motility in patients with eosinophilic gastritis (EG).

Dr. Khoury’s project will examine if allergy mediated inflammation causes fibrostenotic changes in the stomach tissue to contribute to commonly experienced EG symptoms, such as bloating and early satiety, and if it causes a slower emptying of stomach contents into the small intestine. This important work will influence the selection of drugs that will be studied in future EG clinical trials. Learn more…

June 02, 2020

An important feature of the Rare Diseases Clinical Research Network (RDCRN) is the direct involvement of patient advocacy groups in our operations, activities, and strategies. To celebrate these powerful collaborations, we worked with patient advocacy groups to share stories of patient involvement in RDCRN research. These stories demonstrate our goals in action—fostering collaboration to advance the diagnosis, management, and treatment of rare diseases.