MERTK missense variants in three patients with retinitis pigmentosa

Poli, Federica; Yusuf, Imran H.; Clouston, Penny; Shanks, Morag; Whitfield, J. N.; Issa, Peter Charbel; MacLaren, Robert E.

doi:10.1080/13816810.2022.2113541

Cited by 3 publications

(2 citation statements)

References 36 publications

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“…MERTK is important in molecular genetics diagnostics because bi-allelic pathogenic variants in MERTK have been linked to RP [ 27 ]. Missense and nonsense variants can occur in MERTK [ 28 ]. Multiple causative variants can occur in MERTK , some resulting from deletions [ 27 ].…”

Section: Discussionmentioning

confidence: 99%

Challenges and Opportunities in the Genetic Analysis of Inherited Retinal Dystrophies in Africa, a Literature Review

Onyango

Mureithi

Kithinji

et al. 2023

JPM

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Inherited retinal dystrophies (IRDs) are a global problem that is largely unaddressed, especially in Africa. Black indigenous Africans are rarely represented in research that develops genetic tests and genetic therapies for IRDs, yet their genomes are more diverse. The aim of this literature review is to synthesize information on the IRD genetic research conducted among indigenous black Africans to identify challenges and opportunities for progress. PubMed was searched to identify empirical publications reporting the genetic analysis of IRDs among indigenous Africans. A total of 11 articles were selected for the review. Based on the information in the articles, the main genetic testing methods in use include next-generation, whole exome, and Sanger sequencing. The main IRDs characterized by the genetic tests include retinitis pigmentosa, Leber Congenital Amaurosis, Stagardt disease, and cone dystrophy. Examples of implicated genes include MERTK, GUCY2D, ABCA4, and KCNV2 for the four IRDs, respectively. Research activities on the genetics of IRDs are generally scanty in Africa. Even in South Africa and North Africa where some research activities were noted, only a few indigenous black Africans were included in the study cohorts. There is an urgent need for genetic research on IRDs, especially in East, Central, and West Africa.

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Section: Discussionmentioning

confidence: 99%

Challenges and Opportunities in the Genetic Analysis of Inherited Retinal Dystrophies in Africa, a Literature Review

Onyango

Mureithi

Kithinji

et al. 2023

JPM

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“…MERTK is important in molecular genetics diagnostics since bi-allelic pathogenic variants in MERTK have been linked to RP [27]. Missense and nonsense variants can occur in MERTK [28]. Multiple causative variants can occur in MERTK, some resulting from deletions [27].…”

Section: Genes Affected In the Most Prevalent Irdsmentioning

confidence: 99%

Challenges and Opportunities in the Genetic Analysis of Inherited Retinal Dystrophies in Africa, A Literature Review

Onyango¹,

Mureithi²,

Kithinji³

et al. 2022

Preprint

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Inherited retinal dystrophies (IRDs) are a global problem that is largely unaddressed, especially in Africa. Black indigenous Africans are rarely represented in research that develop genetic tests and genetic therapies for IRDs yet their genomes are more diverse. The aim of this literature review is to synthesize information on the IRD genetic research conducted among indigenous black Africans to identify challenges and opportunities for progress. PubMed was searched to identify empirical publications reporting the genetic analysis of IRDs among indigenous Africans. A total of 10 articles were selected for the review. Based on the information in the articles, the main genetic testing methods in use include next-generation, whole exome, and Sanger sequencing. The main IRDs characterized by the genetic tests include retinitis pigmentosa, Leber Congenital Amaurosis, Stagardt disease, and cone dystrophy. Examples of implicated genes include MERTK, GUCY2D, ABCA4, and KCNV2 for the four IRDs respectively. Research activities on the genetics of IRDs are generally scanty in Africa. Even in South Africa and North Africa where some research activities were noted, only a few indigenous black Africans were in the study cohorts. There is an urgent need for genetic research on IRDs, especially in East, Central, and West Africa.

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Advances and challenges in gene therapy strategies for pediatric cancer: a comprehensive update

Moaveni,

Amiri,

Shademan

et al. 2024

Front. Mol. Biosci.

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Pediatric cancers represent a tragic but also promising area for gene therapy. Although conventional treatments have improved survival rates, there is still a need for targeted and less toxic interventions. This article critically analyzes recent advances in gene therapy for pediatric malignancies and discusses the challenges that remain. We explore the innovative vectors and delivery systems that have emerged, such as adeno-associated viruses and non-viral platforms, which show promise in addressing the unique pathophysiology of pediatric tumors. Specifically, we examine the field of chimeric antigen receptor (CAR) T-cell therapies and their adaptation for solid tumors, which historically have been more challenging to treat than hematologic malignancies. We also discuss the genetic and epigenetic complexities inherent to pediatric cancers, such as tumor heterogeneity and the dynamic tumor microenvironment, which pose significant hurdles for gene therapy. Ethical considerations specific to pediatric populations, including consent and long-term follow-up, are also analyzed. Additionally, we scrutinize the translation of research from preclinical models that often fail to mimic pediatric cancer biology to the regulatory landscapes that can either support or hinder innovation. In summary, this article provides an up-to-date overview of gene therapy in pediatric oncology, highlighting both the rapid scientific progress and the substantial obstacles that need to be addressed. Through this lens, we propose a roadmap for future research that prioritizes the safety, efficacy, and complex ethical considerations involved in treating pediatric patients. Our ultimate goal is to move from incremental advancements to transformative therapies.

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MERTK missense variants in three patients with retinitis pigmentosa

Cited by 3 publications

References 36 publications

Challenges and Opportunities in the Genetic Analysis of Inherited Retinal Dystrophies in Africa, a Literature Review

Challenges and Opportunities in the Genetic Analysis of Inherited Retinal Dystrophies in Africa, a Literature Review

Challenges and Opportunities in the Genetic Analysis of Inherited Retinal Dystrophies in Africa, A Literature Review

Advances and challenges in gene therapy strategies for pediatric cancer: a comprehensive update

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