EDNF nominates Nazli McDonnell, MD, PhD, to the NORD "Rare Disease Hall of Fame"
Ehlers-Danlos National Foundation is honored to nominate Dr. Nazli
McDonnell, MD, Phd, to the NORD "Rare Disease Day Hall of Fame".
is a result of her research into Clinical and Molecular Manifestations
of Heritable Disorders of Connective Tissue, specifically Ehlers-Danlos
Dr. Nazli McDonnell graduated from University College Cork and Towson University with
a B.A. degree in philosophy and a B.S. degree in chemistry and biology.
She subsequently worked as a research assistant in Dr. Jeff Corden's
laboratory at JohnsHopkins Medical School
Department of Molecular Biology and Genetics. She completed the
M.D./Ph.D. program in University of Maryland Medical School in 1998.
Her Ph.D. supervisor was Dr. Michael Summers in the Department of
Biochemistry and Molecular Biology at the University of Maryland, Ba
The focus of Dr. McDonnell's Ph.D. research was the study of
protein-drug interactions by Nuclear Magnetic Resonance Spectroscopy.
Dr. McDonnell's clinical training consisted of a residency in Internal
Medicine at York Hospital, Pennsylvania, and
a Medical Genetics Fellowship at the Metropolitan Washington D.C.
Genetics Fellowship Training Program at National Human Genome Research
Institute at the National Institutes of Health. In 2003, Dr. McDonnell
joined Dr. Clair Francomano's laboratory at the National Institute on
Aging, Laboratory of Genetics to study hereditary disorders of
connective tissue. Upon Dr. Francomano's departure, she moved to the
Laboratory of Clinical Investigation. Her professional memberships
include Sigma Xi, American Medical Association, American Women's
Medical Association, American Association for the Advancement of
Science, American Society of Human Genetics, and Phi Kappa Phi.
Research Interests: Dr.
McDonnell's research is focused on clinical and molecular
investigations of hereditary disorders of connective tissue (HDCT). The
disorders of interest are Ehlers-Danlos syndrome (EDS),
Marfan syndrome, Stickler syndrome, hereditary aneurysm syndromes and
fibromuscular dysplasia (FMD). Dr. McDonnell is investigating the
natural history of these disorders at the NIA-ASTRA Unit, as well as
studying genotype/phenotype correlations, molecular and cellular mechanisms and exploring treatment strategies in the laboratory.
Current Clinical Projects - Natural History of Hereditary Disorders of Connective Tissue: We
are investigating the cardiovascular and musculoskeletal complications
of hereditary disorders of connective tissue, including autonomic
dysfunction observed in patients with EDS, incidence of aneurysms and
cardiovascular abnormalities in patients with all forms of HDCT,
incidence of spine abnormalities and bone density loss in patients with
HDCT, and pain and quality of life issues associated with HDCT. These
investigations, in collaboration with Drs. Bolognese and Milhorat, has
uncovered a predisposition to craniocervical junction abnormalities
including Chiari I malformation in patients with HDCT. We are also
enrolling a group of patients with a diagnosis of FMD in order to
define this disorder clinically and discover causative genes.
Current Laboratory Projects: In
collaboration with Dr. Mark Talan's group, we are working with a mouse
model of VEDS to discover and assess treatment strategies for VEDS.
Other investigations include the role of tenascin X (TNXB) mutations
and deletions in Hypermobile EDS and in patients with Congenital
Adrenal Hyperplasia (in collaboration with Dr. Debbie Merke), the study
of genotype/phenotype correlations in Stickler Syndrome (with
Dr. Ala-Kokko), discovery of new causative genes for familial aneurysm
syndromes and in families with HDCT where no mutation in the known
genes such as COL5A1, COL5A2, COL2A1, COL11A1, COL3A1, TGFBR1, TGFBR2
or fibrillin has been identified (with Dr. Andrew Singleton). Other
projects on the horizon include siRNA treatment strategies for
dominantly inherited genetic disorders.
Principal Investigator, IRB approved protocol, National Institute on Aging: Project
# 2003-86: "Clinical and Molecular Manifestations of Heritable
Disorders of Connective Tissue." Patients with hereditary disorders of
connective tissue have many early manifestations that usually afflict
the elderly including osteoarthritis, loss of bone density, spinal disc
disease, musculoskeletal weakness, arterial aneurysms, and alterations
in vascular remodeling. Through clinical and laboratory evaluations in
this group of patients, we expect to elucidate underlying mechanisms contributing to these common conditions associated with aging