|
|
As you may or may not know, Familial Exudative Vitreoretinopathy (FEVR), is a genetic progressive eye disease. That is, it runs in families and is caused by a defective gene (see below for a close up look at one of the known genes). Today only the symptoms of FEVR can be treated. In the future it may be possible to find a disease specific cure, either through gene therapy or through another modality, if enough knowledge is gained about the genetics of FEVR. Understanding the genetics of FEVR can also lead to the development of more genetic tests. With genetic tests, a family with a history of FEVR can get more efficient counseling about their risk of having children with FEVR. The National Eye Institute, National Institutes of Health in the United States and IWK Health Centre in Canada and Vision Research Group, Molecular Medicine Unit, University of Leeds, UK have combined forces to study the genetics of FEVR. The American FEVR Research Consortium is also studying FEVR and has put together a team from around the world. The points of contact for both studies are listed below. Both of these groups are
.All three different forms of inheritance are seen with FEVR. Autosomal dominant is the most common form of inheritance in FEVR and usually some symptoms and signs of the disease are seen in several generations, although these symptoms can be very mild in some of the affected family members. Autosomal recessive parents of a person with FEVR are carriers of the gene but do not have symptoms. The X-linked form of FEVR affects only males in the family. This form of FEVR is not as common as the Dominant form. Recently two of the genes causing the dominant form of the disease were identified both in the same chromosome (chromosome 11). One of these genes is called frizzled 4 gene and the other is called LPR 5. The location of a third gene that also causes the autosomal dominant form of FEVR is also known but the exact gene has yet to be discovered. One of these known genes, the LPR5 gene has also been recently identified to cause autosomal recessive FEVR as well when somebody inherits both of the bad genes (one from each parent) (put link for Dr Xiao’s paper) A mutation in the Norrie Disease gene has been found to cause some x-linked (males only) form of FEVR. It is not known whether all x-linked genes are mutations in the Norri gene but it is thought that most are of this form.
You can make a difference! If you believe that your family might have FEVR, and if you would be willing to be in a clinical study only a small amount of your time could help scientists work towards a more genetic tests and possibility a cure. NIH can also now test your DNA for 2 known forms of FEVR. Have your doctor talk to the contacts for NIH below. See below for the latest in clinical studies and points of contacts to sign up. Call them for more information about the study. You can be in both studies if you wish. Talk to your doctor.
CLINICAL TRIALS NOW ACCEPTING PATIENTS
National Eye Institute, National Institutes of Health
Read More about this trial on the NIH Website
Free genetic testing for 2 genes (talk to your doctor or call the phone number below)
Point of Contact
2. FEVR GENETICS STUDY
THE AMERICAN FEVR RESEARCH CONSORTIUM:
read more about the FEVR research consortium and the study click this link
Jenn Baird, Genetic Research Coordinator
Salt Lake City, Utah 84112 USA
Tel: (801) 585-1297
Fax: (801)585-3501
Jenn will Find a FEVR doctor near you.
Will gene therapy that restored sight in dogs born blind prove successful in human clinical trials?
HERE IS ONE FEVR GENE CLOSE UP WHICH IS ON THE 11th CHROMOSOME. DEFECTS ON THIS GENE CAN CAUSE 3 FORMS OF THE DOMINANT FEVR AND ONE FORM OF THE RECESSIVE FEVR.
C
rystal structure of the YWTD-EGF domain of the LDLR
Here are some helpful links about genetics in general what recessive, dominant and X-linked inheritance means.
-
electronic book with good biological background & about genetics information
-
The OMIM Morbid Map, a catalog of genetic diseases and their cytogenetic map locations arranged alphabetically by disease
Here are some Medical Papers On each form of FEVR