Hereditary retinal dystrophy: Analysis at the genetic level!

Kobe City Kobe Eye Center Hospital

Hereditary retinal dystrophy: Analysis at the genetic level!

-Sysmex and Kobe Eye Center Jointly Develop Inspection System-

Report from article published in Kobe Shimbun NEXT

Sysmex:

An eye disease called hereditary retinal dystrophy. The function of the retina of the eye is impaired, making it difficult to see.

On June 5, we obtained “marketing approval for genetic level analysis system.”

Aiming for insurance coverage in FY2023. Work with the Ministry of Health, Labor and Welfare and related academic societies.

“Hereditary retinal dystrophy” is:

It is a general term for rare diseases that affect one in 4,000 to 8,000 people.

Representative “retinitis pigmentosa”:

There are about 30,000 patients in Japan. It becomes difficult to see things in dark places.

It is a symptom that narrows the field of vision, and if it progresses, it may lead to blindness.

Genetic level inspection system:

Sysmex and Kobe Eye Center will start development in 2020.

A single blood test checks for 82 genetic mutations. identify the causative gene.

Gene therapy in Europe and the United States:

For hereditary retinal dystrophy, there has been no fundamental treatment until now.

Recently, in Europe and the United States, therapeutic methods for some of the causative genes have been established.

Identification of the gene would allow early initiation of appropriate treatment and prediction of disease progression.

Introduction of Sysmex’s new system:

Utilize Sysmex test results in the development of new drugs. We want to start introducing the new system as soon as possible.