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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 (/ˈkæt/, US dict: kăt) is… Inserted in first paragraph (FEVR) (/ˈfēvər/, 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.

Management

Mental Health Management

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

Further Reading

American with Disabilities Act

See also

Pediatric psychology Developmental psychology

• National Institutes of Health
• Orphan drugs
• Rare Disease Day
• National Organization for Rare Disorders

Categories

• Ophthalmology
• Rare Diseases
• Human medicine
• Pediatrics
• Chronic Illness

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Copied from FEVR Article for formatting --------------------

Familial exudative vitreoretinopathy (FEVR) (/ˈfēvər/, US dict: fēvər) is a genetic disorder affecting the growth and development of blood vessels in the retina of the eye. This disease can lead to visual impairment and sometimes complete blindness in one or both eyes. FEVR is characterized by exudative leakage and hemorrhage of the blood vessels in the retina, along with incomplete vascularization of the peripheral retina. The disease process can lead to retinal folds, tears, and detachments.

Causes

Genetic types include:

Type	OMIM	Gene	Locus
EVR1	133780	FZD4	11q14-q21
EVR2	305390	NDP	Xp11.4
EVR3	605750	?	11p13-p12
EVR4	601813	LRP5	11q13.4
EVR5	613310	TSPAN12	7q31

External links

• FEVR.NET website
• GeneReviews/NCBI/NIH/UW entry on Familial Exudative Vitreoretinopathy, Autosomal Dominant

Category:Blindness Category:Disorders of choroid and retina