Target population:

Young people aged 17-35 (as well as parents of children in these ages), from families in which carriers of the RP gene have been diagnosed.

 

About the disease

Retinitis pigmentosa (RP) is a group of diseases that cause gradual retinal disease and can progress to blindness.
The frequency of the disease in Israel is considered relatively high and in certain areas is 1 in 2,000 people.
Among families in which the gene is present in its dominant version, each birth has a 50% chance of giving birth to a child carrying the defective gene.
Most genes associated with this disease do not have effective drug treatment.

 

How can it be prevented?

Prenatal genetic diagnosis is a genetic test that makes it possible to prevent the birth of a child who has a genetic disease.
This test is performed during in vitro fertilization and is used to verify that the embryo returned to the mother's womb is 'clean' of the mutation that exists in the family.
In the case where one of the parents carries a dominant gene, in each pregnancy there is a 50% chance of giving birth to a newborn who carries the defective gene.
If preimplantation genetic testing is performed, the chance of giving birth to a newborn who carries the defective gene is zero.

 

The challenge

  • Not all carriers come for counseling, and there is no certainty that the information is distributed among family members.
  • Even when the information is passed on by a family member, there is no control over the quality of the information.
  • Cultural and other barriers - such as shame, fear of separation from a partner, etc. - that prevent young men and women from getting tested and having a diagnosis.


The vision

Making knowledge accessible and influencing the target audience in a way that will significantly reduce the number of newborns who carry a dominant gene that causes blindness and reduce the chance of passing the gene on to future generations.

 

The Actions

Making relevant information accessible to the target audience through educational materials that are catchy and understandable to the general public, and will clarify the importance of genetic diagnosis and counseling.

 

Statistical information

  • 160 Jewish families with dominant inheritance of the RP gene and 21 Muslim families.
  • No information on Haredi.
  • No information on families with Asher syndrome.
  • It is estimated that there are twice as many cases in Israel.