Tag Archives: survey

Future of genetic therapies for rare genetic diseases: what to expect for the next 15 years? (Full-Text)

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Rare genetic diseases affect millions of people worldwide. Most of them are caused by defective genes that impair quality of life and can lead to premature death. As genetic therapies aim to fix or replace defective genes, they are considered the most promising treatment for rare genetic diseases. Yet, as these therapies are still under development, it is still unclear whether they will be successful in treating these diseases. This study aims to address this gap by assessing researchers’ opinions on the future of genetic therapies for the treatment of rare genetic diseases. We conducted a global cross-sectional web-based survey of researchers who recently authored peer-reviewed articles related to rare genetic diseases. We assessed the opinions of 1430 researchers with high and good knowledge about genetic therapies for the treatment of rare genetic diseases. Overall, the respondents believed that genetic therapies would be the standard of care for rare genetic diseases before 2036, leading to cures after this period. CRISPR-Cas9 was considered the most likely approach to fixing or replacing defective genes in the next 15 years. The respondents with good knowledge believed that genetic therapies would only have long-lasting effects after 2036, while those with high knowledge were divided on this issue. The respondents with good knowledge on the subject believed that non-viral vectors are more likely to be successful in fixing or replacing defective genes in the next 15 years, while most of the respondents with high knowledge believed viral vectors would be more successful. Overall, the researchers who participated in this study expect that in the future genetic therapies will greatly benefit the treatment of patients with rare genetic diseases.

For FULL-TEXT https://journals.sagepub.com/doi/pdf/10.1177/26330040221100840

Author(s): Luiza Amara Maciel Braga , Carlos Gilbert Conte Filho, Fabio Batista Mota
Organization(s): Oswaldo Cruz Foundation, Fluminense Federal University, Federal University of Santa Maria
Source: Therapeutic Advances in Rare Disease
Year: 2022

Anticipating New Treatments for Cystic Fibrosis: A Global Survey of Researchers (full-text)

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Cystic fibrosis is a life-threatening disease that affects at least 100,000 people worldwide. It is caused by a defect in the cystic fibrosis transmembrane regulator (CFTR) gene and presently, 360 CFTR-causing mutations have been identified. Since the discovery of the CFTR gene, the expectation of developing treatments that can substantially increase the quality of life or even cure cystic fibrosis patients is growing. Yet, it is still uncertain today which developing treatments will be successful against cystic fibrosis. This study addresses this gap by assessing the opinions of over 524 cystic fibrosis researchers who participated in a global web-based survey. For most respondents, CFTR modulator therapies are the most likely to succeed in treating cystic fibrosis in the next 15 years, especially through the use of CFTR modulator combinations. Most respondents also believe that fixing or replacing the CFTR gene will lead to a cure for cystic fibrosis within 15 years, with CRISPR-Cas9 being the most likely genetic tool for this purpose.

For FULL-TEXT go to https://doi.org/10.3390/jcm11051283

Author(s): Bernardo Cabral, Vito Terlizzi, Onofrio Laselva, Carlos Conte Filho, Fabio Mota
Organization(s): Federal University of Bahia, Oswaldo Cruz Foundation, University of Foggia, Federal University of Santa Maria, Anna Meyer Children’s University
Source: Journal of Clinical Medicine
Year: 2022