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What is a rare disease?
A rare disease (also called an orphan disease) is a disease or condition affecting fewer than 200,000 persons in the United States. Up to 25 million people in the United States have rare diseases.
How many rare diseases are there?
There
are more than 6,800 rare diseases. Altogether, rare diseases affect an
estimated 25 million to 30 million Americans.
What is a genetic disease?
A genetic disease is caused by a change in a person’s DNA. Some genetic diseases are inherited from parents, and others are caused by new changes that occur during a person’s lifetime. Most genetic diseases are considered rare because they affect fewer than 200,000 people in the United States.
What causes rare diseases?
Rare Disease Zebra Stripe Awareness Ribbon
The
exact cause for many rare diseases remains unknown. Still, for a significant
portion, the problem can be traced to mutations (changes) in a single gene.
Such diseases are referred to as rare, genetic diseases. Many of these genetic
mutations can be passed on from one generation to the next, explaining why
certain rare diseases run in families.
It
is important to keep in mind that genetics are just one piece of the puzzle.
Environmental factors, such as diet, smoking, or exposure to chemicals, also
can play a role in rare diseases. Such factors may directly cause disease, or
interact with genetic factors to cause or increase the severity of disease.
What are some examples of rare diseases?
Examples
of rare diseases caused by mutations in single genes include cystic fibrosis,
which affects the respiratory and digestive systems (See: Learning
About Cystic Fibrosis); Huntington's disease, which affects the
brain and nervous system (See: Learning About Huntington's Disease); and
muscular dystrophies, which affect the muscles (See: Learning
About Duchenne Muscular Dystrophy).
Single
genes are also responsible for some rare, inherited types of cancer. Examples
of these are the BRCA1 and BRCA2 genes, in
which certain mutations increase the risk for hereditary breast and ovarian
cancers (See: Learning About Breast Cancer), and the FAP gene,
in which mutations increase the risk for hereditary colon cancer (See: Learning
About Colon Cancer).
Rare
diseases related to environmental factors include uncommon types of anemia
caused by vitamin-deficient diets or certain medications. A rare cancer caused
by environmental factors is mesothelioma (See: General Information About Malignant Mesothelioma [cancer.gov]),
which affects the cells lining the chest cavity. More than 90 percent of
mesothelioma cases are caused by exposure to asbestos, a fibrous mineral once
widely used in fireproofing and insulation materials.
.png "Rare Disease is a disease or disorder that affects a small group of people (Zebtra Stripes Awareness Ribbon Angel)") |
| Rare Disease is a disease or disorder that affects a small group of people (Zebtra Stripes Awareness Ribbon Angel) |
What is being done to develop treatments for rare diseases?
Researchers
have made considerable progress in recent years in figuring out ways to
diagnose, treat and even prevent a variety of rare diseases. Still, much more
remains to be done because there are no treatments for the vast majority of
rare diseases.
The
Orphan Drug Act of 1983 provides incentives for drug companies to develop
treatments for rare diseases. In the 25 years since the Act was signed into
federal law, the U.S. Food and Drug Administration (FDA) has approved more than
340 treatments for rare diseases.
Recently,
the National Institutes of Health (NIH) launched a new effort, called the
Therapeutics for Rare and Neglected Diseases (TRND) program, to create an
integrated research pipeline to jump start the development of new treatments
for rare and neglected disorders. The NIH Office of Rare Diseases Research
(ORDR) handles oversight and governance of TRND. The laboratory work for TRND
will be performed in a facility administered by the intramural program of the
National Human Genome Research Institute (NHGRI).
To
learn more about TRND, go to the ORDR-TRND Web site at http://rarediseases.info.nih.gov/TRND.
Where can people get more information about rare diseases?
The
NIH, which is part of the U.S. Department of Health and Human Services,
established the Office of Rare Diseases Reearch (ORDR) to help advance research
focused on rare diseases.
To
provide patients and their families with timely and reliable information, ORDR
and NHGRI have created the online Genetic and Rare Diseases (GARD) Information
Center. GARD offers a searchable, frequently updated Web site located at:http://rarediseases.info.nih.gov/GARD.
Users can also contact GARD's information specialists directly by e-mail,
telephone, FAX, TTY or postal mail.
In
addition to GARD, there are many non-profit groups that provide information and
support, promote research and advocate for policy issues related to various
rare diseases. Among the groups that span a broad range of disorders are the
National Organization for Rare Diseases, http://www.rarediseases.org,
and the Genetic Alliance, http://www.geneticalliance.org.
The above information is from the National Institutes for Health (NIH) Genetic and Rare Diseases (GARD). Learn more at http://rarediseases.info.nih.gov/GARD/
NIH National Human Genome Research Institute http://www.genome.gov/27531963
Learn more about specific conditions at http://ghr.nlm.nih.gov/BrowseConditions
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