Genomic research reveals hereditary retinal diseases in different populations

An international research team, scientists from the University of California, San Diego, and the Shiley Institute of Ophthalmology, University of California, San Diego, led the study to expand and deepen the understanding of how inherited retinal dystrophy (IRD) affects different populations, in the process , Discovered new gene mutations that may cause disease

The results of the study will be published in the journal Genetics of the Public Library of Science on October 18, 2021

Retinitis pigmentosa is a group of diseases, ranging from retinitis pigmentosa to choroidal deficiency, leading to progressive vision loss and even blindness

IRDs are rare, but they affect people of all ages and develop at different rates, even in families with the same disease

The US Food and Drug Administration has approved gene therapy for the treatment of an IRD containing the RPE65 gene, but for other IRDs caused by more than 280 different gene mutations, there is currently no proven cure or treatment that can slow the progression of the disease.

The researchers performed whole genome sequencing (WGS) on 409 people from 108 unrelated families, each of whom had been diagnosed with IRD

The study participants came from three different geographic regions: Mexico, Pakistan, and European Americans living in the United States

In total, 63% of participants in Mexico, 60% of participants in Pakistan, and 48% of participants in Europe and the United States found pathogenic variants

The study also found a large number of new IRD-causing mutations in the study population and revealed the types of mutations that lead to hereditary retinal dystrophy

The genome structure of another 8% of families has undergone major changes, leading to hereditary retinal diseases.

The author said that the new findings have promoted the understanding of the distribution of IRD pathogenic mutations in these three different populations, which will further understand the variation and manifestations of the disease

The research team is led by Dr.

Co-authors include: Pooja Biswas, University of California, San Diego and REVA University, India; Adda L.

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Magazine

Public Science Library Genetics

DOI

10.

Article publication date

October 18--2021