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Wednesday, January 1, 2014

What exactly was lost in protocol 2003-086?

Dear Governor Dayton, Senator Franklin and Senator Klobochar,
Please on behalf of patients asked why this study was closed with out a reasonable cause. Ask to have it reinstated under the Lead Investigator Nazli McDonnell immediately.

What exactly did families, patients and the medical community loose when NIA decided with no reasonable explanation to stop  protocol 2003-086?
This is what was lost: (

The National Institute on Aging (NIA) maintains a cutting-edge clinical research unit at Harbor Hospital, Baltimore. Under the direction of Dr. Nazli McDonnell at the NIA clinical unit, more than 800 patients from around the world have been enrolled in a natural history study of hereditary disorders of connective tissue. The patients enrolled in longitudinal follow-up receive a comprehensive 2-day evaluation, including genetic testing, medical examinations, and cardiovascular imaging studies. Many of these patients meet the eligibility criteria for and are recruited into the GenTAC Registry during their visit to the NIA facility.

Nazli B. McDonnell, MD, PhDPrincipal Investigator

Nazli B. McDonnell, MD, PhD, has been an NIA clinician in medical genetics since 2003. Her research is focused on clinical and molecular investigations of hereditary disorders of connective tissue, in particular EDS, Marfan syndrome, Stickler syndrome, hereditary aneurysm syndromes, and fibromuscular dysplasia. Dr. McDonnell is investigating the natural history of these disorders, and studying genotype/phenotype correlations and molecular and cellular mechanisms and exploring treatment strategies using plasma and tissue samples from affected patients. In collaboration with Dr. Mark Talan at the NIA Laboratory of Cardiovascular Science, Dr. McDonnell has been working with a mouse model of vascular EDS to discover and assess treatment strategies. She is also investigating the role of tenascin X mutations and deletions in hypermobile EDS and congenital adrenal hyperplasia together with Dr. Deborah Merke of the Eunice Kennedy Shriver National Institute of Child Health and Human Development

Who did it affect?

Me (Kari Ulrich) and my two amazing boys!

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