-
Categories
-
Pharmaceutical Intermediates
-
Active Pharmaceutical Ingredients
-
Food Additives
- Industrial Coatings
- Agrochemicals
- Dyes and Pigments
- Surfactant
- Flavors and Fragrances
- Chemical Reagents
- Catalyst and Auxiliary
- Natural Products
- Inorganic Chemistry
-
Organic Chemistry
-
Biochemical Engineering
- Analytical Chemistry
-
Cosmetic Ingredient
- Water Treatment Chemical
-
Pharmaceutical Intermediates
Promotion
ECHEMI Mall
Wholesale
Weekly Price
Exhibition
News
-
Trade Service
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.
# # #
Magazine
Public Science Library Genetics
DOI
10.
Article publication date
October 18--2021