PPMD Community

Meeting with Guadalupe Franco, PhD UPA! Mexico

Guadalupe and I met several weeks ago to discuss UPA!’s efforts in Mexico. On May 13 and 14, UPA! will host their

first conference in Merida, Yucatan, Mexico. This is a major step for UPA! and will be focused on promoting early and accurate diagnosis and standards of care. Their intention is to identify healthcare professionals with a willingness to specialize in interdisciplinary care for Duchenne muscular dystrophy. May 14 will include families and patients as a first step to educate the growing Duchenne community about the importance of genetic diagnosis, the impact of optimal care, as well as, information about research and clinical trials. Annel Guzmán, president of the organizing committee of this first event is planning a second conference for 2012 and intends to create momentum around diagnosis, care, and treatment for all boys in Mexico.

In Mexico and the rest of Latin America, there is a critical need for accurate diagnosis. Typically diagnosis is confirmed by elevated CK, muscle biopsy, and families. Without a genetic (molecular) diagnosis, boys with Duchenne are not included in the TREAT-NMD global database and therefore would not be potential candidates for exon skipping trials. Guadalupe drove to Atlanta to meet with Madhuri Hedge in an effort to initiate a collaboration with Emory genetics for genetic testing. While Emory is not able to donate the testing, hopefully UPA! and Emory University will have the ability to facilitate testing at least temporarily until UPA! is able to advocate for coverage through the Mexican government or some type of sponsorship to follow same pattern to other countries in Latin America. All boys deserve access – to accurate diagnosis, optimal care, opportunities to participate in clinical studies/trials, and to a life of quality.

To enhance the event, a conference on Genomic Medicine will be hosted by Gerardo Jimenez PhD Chair, Working Party in Biotechnology, Organization for Economic Co-Operation and Development (OECD) Council member of the Human Genome Organization (HUGO).

For those interested in more information on the conference: http://upaduchenne.org/upa_merida/index.php

Patricia Ann Furlong

Founding President and CEO

Parent Project Muscular Dystrophy

Home Address: 125 Marymont Ct
Middletown, OH 45042

Office Address: 1012 North University Blvd.
Middletown, OH 45042

Education: 1969 – B.S. College of Mount Saint Joseph, Cincinnati,
Ohio (Nursing)
1969-72 – Ohio State University, Columbus, Ohio
(Graduate nursing program and head of NICU.
Left before submitting thesis.)

Employment: 1972-1975 Nurse, Renal Dialysis, UCI, CCU ER
Akron
General Hospital, Akron, Ohio

1982-1983 Nurse Educator
Middletown Regional Hospital, Middletown, Ohio

1994 to present Founder/President and
Executive Director
Parent
Project Muscular Dystrophy, Middletown, Ohio

Other Experience and Professional Memberships:

                                    2002 to present           Committee member
                                                                        Data
Safety Monitoring Board
                                                                        Rare
Diseases Clinical Research Network

2002 to present Committee member
Cooperative
International Neuromuscular Research Group

2005 to present Committee Member
Collaboration in Education and Test Translation Program

2002 - 2007 Board member
Muscular Dystrophy Coordinating Committee
U.S. Department of Health and Human Services

2005 - 2007 Board member
Genetic Alliance

2006 to present Founding partner
Duchenne Research Collaborative International (DRCI)

2008 Consumer Representative
Molecular and Clinical Genetics Devices Panel
Center for Devices and Radiological Health
Food and Drug Administration

2011 Board of Directors of the National Organization
for
Rare Disorders (NORD)

2011 Institute of Medicine's (IOM's) Committee
on
Pediatric Studies

Honors: 2002 Recipient of United Airlines “Everyday Hero” Award

2008 Recipient of Research!America’s
Gordon
and Llura Gund Leadership Award

2010 The New Yorker Magazine 2010: World Changer

2010 WebMD Health Hero 2010