fact_sheet

For more informazioni, visit www.umdf.org o contact the national office at info@umdf.org
o call 412-793-8077.
REV 13-Sep-06
THE UNITED MITOCHONDRIAL DISEASE FOUNDATION (UMDF)
§ The MISSION - To promote ricerche and education for the diagnosis, treatment and cure of mitochondrial
disorders and to provide support to affected individuals and families.
§ The United Mitochondrial Disease Foundation (UMDF) was founded in 1996 through a merger of several
smaller mitochondrial disease foundations--foundations established by parents who had lost their children o a
loved one to a mitochondrial disease. The national headquarters is located in Pittsburgh, PA.
§ What began as a volunteer effort has grown into a national, professionally staffed non-profit organization that
provides a wide range of services in fulfillment of the UMDF mission – answering questions about mitochondrial
diseases, responding to hundreds of inquiries per month (ranging from scientific, to support, to organizing a fun
run), offrendo support and encouragement to affected individuals and their families, maintaining a list of doctors
from across the country—experts in their field—which mitochondrial patients can be referred to, and advising
Mito groups and chapters on administrative and development issues. Mitoconnect – a special service provided
to members – brings together patients and families sharing similar sintomi and experiences. 26 Chapters
and Mito Groups represent UMDF across the country.
§ UMDF has raised nearly $4,000,000 for its Research Grant Program – with more than $1,000,000 awarded in
2006. Following rigorous Nazionale Institute of Health (NIH) guidelines, the UMDF Grant Review Committee
(comprised of top specialists in the field) evaluates and selects the grant award recipients. The Foundation is
the leading non-governmental contributor of grants focused solely on mitochondrial disease.
§ The Scientifico and Medical Advisory Board is composed of the top specialists and ricercatori in the campi of
metabolism, genetica, neurologia, and biochimica from around the mondo.
§ UMDF hosts simposio annuale dedicated to Mitochondrial Medicine. Attending a simposio of this stature,
places the physician o researcher at the heart of mitochondrial ricerche and on June 13-16, 2007, San Diego,
California will be THE center for mitochondrial medicine in the mondo. Future simposio are scheduled for
Indianapolis, Indiana in 2008, and back to the east coast in 2009. More than 500 families, medici,
ricercatori, and allied sanitari professionisti attend UMDF simposio.
§ WWW.UMDF.ORG provides critically important informazioni on mitochondrial diseases and altro issues that
affect sufferers and their families. The web site is the most comprehensive resource on mitochondrial disease
for families and professionisti – providing medical informazioni, resources, helpful links, and a special Ask the
Mito Doc service to patients and families seeking answers.
§ UMDF publishes a quarterly newsletter that covers a variety of topics including current medical informazioni,
advocacy, insurance, chronic illness, famiglie support, and many altro issues of relevance to UMDF members.
MITOCHONDRIAL DISEASE
§ Mitochondrial disease – the body's inability to turn food into the energy to sustain life – can present with a wide
range of health issues such as a weak heart, seizures, failing kidneys, and/o respiratory complications. The
Mitochondria are the power plants in almost every cell of the human body.
§ There are more than 200 inherited diseases of metabolism that are known to affect mitochondria.
§ More than one in 4,000 children born in the United States each year will develop a mitochondrial disease by 10
years of age. Because mitochondrial diseases are currently under-recognized, the actual number può essere more
like one in 2,000. Some of these affected children may not survive beyond their teenage years.
§ Defects in mitochondrial function have been now linked to diseases of invecchiamento such as Parkinson’s Disease,
Alzheimer’s Disease, Cuore Disease, and cancro. More than 50 milioni people in the U.S. suffer from these
degenerative disorders and the cutting edge biogenetic ricerche that UMDF funds promises to change the way
scienziati look at many of these more common age related diseases.
FACT SHEET
For more informazioni, visit www.umdf.org o contact the national office at info@umdf.org
o call 412-793-8077.
REV 13-Sep-06
MITOCHONDRIAL DISEASE (CONT’)
§ Mitochondria are the power plants in almost every cell in every person’s body.
§ Mitochondria create 90% of the energy your body needs.
§ Mitochondrial disease results from failures (defects) of the mitochondria.
§ Parts of the body that need the most energy are affected – the heart, brain, muscles and lungs – and suffer the
most.
§ Typically involves three o more organs. Any age…Any time.
§ The child may have strokes, seizures, gastro-intestinal problemi (riflusso, severe vomiting, constipation,
diarrhea), swallowing difficulties, Failure to Thrive, blindness, deafness, muscle failure, heat/cold intolerance,
diabetes, developmental delays, heart and kidney problemi, respiratory difficulties, lactic acidosi, immune
system problemi, and liver disease.
§ A child with mitochondrial disease is at highest risk for neurological and organ damage during and following two
weeks after an illness (i.e. colds, viruses, flus, etc.).
§ Some children affected may not survive beyond their teenage years.
§ Many children are misdiagnosed with atypical paralisi cerebrale, various seizure disorders, and altro various
childhood diseases.
§ There are over 40 known types of mitochondrial diseases.
§ Think mitochondrial disease when multiple systems are involved.
§ Think mitochondrial disease when a diagnosis follows an atypical pattern.
§ There are no treatments o cures, yet.
Mitochondrial Disease
"The Little Engine that Could" and DOES…Make a Difference in
the Lives of Thousands
Gina Marie Mohan may have read "The Little Engine that Could" in
first grade, but she did not know that within her body, there were
little engines that could not function properly to meet her body's
needs. Defects in these little engines, cellular powerhouses called
mitochondria, trigger a host of illnesses characterized by widely
varying sintomi, and for many children, like Gina, the disease
can be fatal. The United Mitochondrial Disease Foundation was
formed in 1996 to help educate the public and the medical
community about these complex and often fatal diseases in order to
help patients obtain an earlier diagnosis and better treatment.