User:Janeannyoung/sandbox

DRAFT OF FEVR ARTICLE

Lead
FEVR is rare disease progressive Disease of the eye.

Trying to find original reference for stating that FEVR is a "rare disease"

U.S. Health and Human Services / NIH / NCATS / GARD

FEVR

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by two parts of the National Institutes of Health (NIH): NCATS and the National Human Genome Research Institute (NHGRI). GARD provides the public with access to current, reliable, and easy-to-understand information about rare or genetic diseases in English or Spanish.

A rare disease is defined by

Orphan Drug Act -- Excerpts

(Public Law 97-414, as amended)

DESIGNATION OF DRUGS FOR RARE DISEASES OR CONDITIONS

SEC. 526 OF THE FEDERAL FOOD, DRUG, AND COSMETIC ACT [21 USC 360bb]

“the term "rare disease or condition '' means any disease or condition which

(A) affects less than 200,000 persons in the United States, or

(B) affects more than 200,000 in the United States and for which there is no reasonable expectation that the cost of developing and making available in the United States a drug for such disease or condition will recovered from sales in the United States of such drug”

About GARD

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by two parts of the National Institutes of Health (NIH): NCATS and the National Human Genome Research Institute (NHGRI). GARD provides the public with access to current, reliable, and easy-to-understand information about rare or genetic diseases in English or Spanish.

FAQs About Rare Diseases

United States, a rare disease is defined as a condition that affects fewer than 200,000 people. This definition was by Congress in the

Rare diseases became known as orphan diseases because drug were not interested in adopting them to develop treatments.

The Orphan Drug Act created financial incentives

encourage companies to develop new drugs for rare diseases. The rare disease definition was needed to establish conditions would qualify for the new incentive programs.

How many rare diseases are there?

There are many different causes of rare diseases. The majority are thought to be genetic, directly caused by changes ingenes or chromosomes. In some cases, genetic changes that cause disease are passed from one generation to the next.In other cases, they occur randomly in a person who is the first in a family to be diagnosed.

Many rare diseases, including infections, some rare cancers, and some autoimmune diseases, are not inherited. Whileresearchers are learning more each year, the exact cause of many rare diseases is still unknown.

Pronunciation Notes for Article
Pronunciation of (FEVR) Example of pron code a cat (, US dict: kăt) is… Inserted in first paragraph (FEVR) (, US dict: fēvər)

Causes
FEVR genetics paragraphs (genetic table here)

Mechanism
Genetic mutation causing communication problem inside the cell. pathogenesis and pathophysiology.

Diagnosis
Complete retinal exam with floricine angiogram by a retinal specialist.

Genetic Testing

Misdiagnosis
in Premature Birth Differential Diagnosis of ROP when premature birth occurs.

Pediatrics and Adolescent Needs
Helping Children with chronic illness

Art and Play Therapy

Preventing Emotional Trauma

Risk Factors

 * Rare Disease, unknown prevalence
 * Genetic Testing/counseling
 * Further Reading

History

 * FEVR First medical paper
 * History of FEVR genetics.
 * Development of Pediatric retinal opthmology
 * outdated treatments - chirothearapy (freezing/burn of retina)
 * Development history of vitrectomy (Youtube video) Breakthrough in treatment.
 * Photocogualation (Laser surgery) History
 * Pediatric Psychology - Improvements in understanding of pediatric psychological issues relating to chronic medical procedures.

Research Outlook

 * Drug Development
 * Rare Disease Laws
 * FEVR gene identification
 * Gene therapy of human retina
 * NIH Gene Eye Project (Need to get correct name and link)
 * Law 2001 NIH Project for Rare Diseases
 * National Institutes of Health
 * Orphan drugs
 * Rare Disease Day
 * National Organization for Rare Disorders

Causes
Genetic types include: