External consultants are part of the Scientific Committee of the “Noelia Foundation, Muscular Dystrophy children with collagen VI deficit“. They are responsible for studying and researching this disease to improve the quality of life of these children and to find a cure. It is urgent to investigate this disease due to the progressive muscle degeneration and the consequent severe paralysis.
External consultants’ staff:
Dr. CECILIA JIMENEZ MALLABRERA
Applied Research Laboratory at Children’s Neuromuscular Disease. Neuromuscular Pathology Unit. Neuropediatría service. Hospital Sant Joan de Deu, Barcelona.
Dr. NASCIMENTO ANDRES OSORIO
Neuromuscular Pathology Unit, Department of Neurology, Hospital Sant Joan de Deu, Barcelona.
Dr. ANNE RUTKOWSKI
Is Co-Founder and Former Chairman of Cure CMD (2009-2012) and oversees the annual Cure CMD grant program, scientific conferences, biobanks, registry and traveling local clinics.
Anne continues to work with clinicians and scientists worldwide to support current CMD research and evaluate opportunities for the CMDIR to participate in clinical research. Dr. Rutkowski is a practicing board certified emergency medicine physician in Los Angeles.
Dr. Rutkowski’s daughter has congenital muscular dystrophy, subtype, dystroglycanopathy.
Dr. Rutkowski graduated from the University of California Irvine Medical School, elected to Alpha Omega Alpha Honor Medical Society. She attended Bryn Mawr College as an undergraduate, graduating Magna cum laude with Honors in Biology. Prior to attending medical school, Dr. Rutkowski taught for 3 years in an inner city elementary school in Los Angeles, as part of Teach for America.
She would like to shrink the diagnostic odyssey, see improvements and standardization of guidelines in medical care for all patients with CMD and a focused approach to identifying therapeutic targets. As a former educator, education and improved disease awareness are two further areas of focus for Cure CMD.