Doctor and Mom of newborn with CMT makes hereditary muscle disease a career

[Guest guest]

http://www.mda.org/research/irvine-uc-372k.html

It was a heart-wrenching moment. A young mother's newborn child had severe

muscle weakness and vocal cord palsy. For Virginia Kimonis, M.D., it was a

life-changing moment. She examined the baby and soon learned that many members

of the baby's large family had hearing loss and a hereditary neuromuscular

disease called Charcot-Marie-Tooth Disease (CMT), for which Kimonis could do

little clinically. Her professional frustration soon became an obsession for

doing research with patients seen in clinic and on the ward. Studying the baby

and its family became her passion; and subsequently, hereditary muscle disease

research became her career.

" The families I work with become part of my family, " said Kimonis, the chief of

the Genetics and Metabolism Division and professor of Pediatrics at the

University of California-Irvine. " I would like to be able to make a discovery

with our clinical and lab work. I want to make a difference in their lives. "

In July, the MDA Board of Directors approved $372,000 in new research funding

for Kimonis, who is now working to define the root cause of hereditary

inclusion-body myopathy (HIBM), a genetic disease that causes progressive muscle

weakness. The work builds on her 2003 identification of the Valosin Containing

Protein (VCP). Every one of the patients she examined with symptoms of HIBM had

identical mutations in the gene encoding VCP. VCP mutations also cause Paget

bone disease in half the patients and frontotemporal dementia in a third.

Additionally, some patients have features that resemble ALS (amyotrophic lateral

sclerosis, or Lou Gehrig's disease) and Parkinson's disease.

Kimonis is one of 38 research leaders now receiving multiyear awards from MDA.

Her three-year project is part of the $14.1 million in research funding approved

during the Association's annual Board meeting. This is Kimonis' second grant and

now MDA's total financial commitment to support her research at UC Irvine totals

nearly $500,000. Two of her trainees also have been supported by MDA development

grants.

According to R. Rodney Howell, M.D., chairman of the MDA Board of Directors,

" Generous Americans responding to the annual Jerry MDA Telethon, and to

thousands of other special events benefiting the families served by MDA, deserve

much of the credit for the rapid progress being made toward treatments for

neuromuscular diseases. It's their strong belief in MDA's capable stewardship

of public funds that's enabling so much to be accomplished — even in a sluggish

economy. "

Research grant applications are peer-reviewed twice yearly by MDA's Medical and

Scientific Advisory Committees, comprised of world-renowned experts in

neuromuscular disease research. The most promising of some 500 applications

received each year are recommended for funding to the MDA Board of Directors.

" MDA is a very important organization for funding research in neuromuscular

treatments and cures for neuromuscular diseases, " Kimonis said. " I thank the MDA

leadership for making this a top priority. The grants allow us to make

significant inroads in understanding the mechanism of the disease, and

ultimately developing a cure. "

Cwik, MDA executive vice president for research and medical director,

said, " MDA is pleased to provide funding to physicians like Virginia Kimonis who

are also helping patients by advancing important laboratory research. By

defining the pathogenesis of the disease for which she discovered the VCP gene

mutation, she's paving the way to better diagnosis and meaningful therapies. "

Often credited for its leadership in building the field of neuromuscular disease

research, MDA also has enhanced clinical care for individuals affected by muscle

disorders, achieving important quality of life and longevity gains. The

Association, which has invested almost $39 million in 2010 in research

worldwide, is the first nonprofit to earn a Lifetime Achievement Award from the

American Medical Association ( " for significant and lasting contributions to the

health and welfare of humanity " ).

MDA-funded scientists have uncovered the genetic defects that cause several

forms of muscular dystrophy; Charcot-Marie-Tooth disease (CMT); a form of

amyotrophic lateral sclerosis (ALS, or Lou Gehrig's disease); childhood spinal

muscular atrophy (SMA) and other neuromuscular conditions. Now entering a period

of increasing numbers of clinical trials of potential therapeutics, the

Association's network of approximately 200 hospital-affiliated clinics is

instrumental in identifying appropriate candidates for clinical trials; and to

help refine outcome measures for those clinical trials.

In the Los Angeles area, individuals affected by any of the more than 40 muscle

diseases in MDA's program can receive excellent medical care at Rancho Los

Amigos National Rehabilitation Center in Downey; Loma University in San

Bernardino; Children's Hospital of Orange County and University of California,

Irvine Medical Center in Orange; Hospital of the Good Samaritan at USC and UCLA

in Los Angeles. For more information on MDA research and programs, go to

www.mda.org.

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS

and related diseases by funding worldwide research. The Association also

provides comprehensive health care and support services, advocacy and education.

For more information on MDA research and programs, go to www.mda.org.

For more information about these new grants, visit MDA's " Grants at a Glance, "

an online slideshow that showcases each grant with photos and detailed

information.