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- Cone-Rod Dystrophy (CRD)
Cone-Rod Dystrophy (CRD) is a rare disorder that is both inherited and retinal. It is marked primarily by the degeneration of cone photoreceptors, which is later accompanied by rod degeneration. Protheragen offers comprehensive services for the development of diagnostics and therapeutics for Cone-Rod Dystrophy (CRD).
Cone-Rod Dystrophy (CRD) is an inherited retinal disease that primarily affects cone photoreceptors and then invades rod photoreceptors. Like many other heritable conditions, CRD is marked with clinical and genetic variability. This degenerative condition usually begins with the loss of central visual acuity, disruption of color vision, and increased sensitivity to light. Prevalence is estimated to be between 1 in 20,000 and 1 in 100,000. The recent advances in molecular genetics, especially NGS (Next Generation Sequencing), have significantly enhanced the comprehension and diagnosis of CRD by establishing at least 30 genes responsible for mutations linked to this disorder's pathology.
Fig. 1 Families with autosomal recessive rod-cone dystrophy (RCD) and cone-rod dystrophy (CRD) or cone dystrophy (CD) and pathogenic variants in UBAP1L. (Zeitz C., et al., 2024)
CRD (cone-rod dystrophy) arises from genetic defects that impair cone photoreceptor function and survival. These defects occur in genes related to photoreceptor biology domains like phototransduction, outer segment morphogenesis, intraflagellar transport, and neurotransmitter secretion. For example, mutations in PDE6C and PDE6H disrupt phototransduction, PRPH2 and CDHR1 affect outer segment morphogenesis, RPGR and RAB28 impact intraflagellar transport, and RIMS1 and UNC119 mutations influence neurotransmission. These gene mutations lead to photoreceptor dysfunction and degeneration, causing CRD symptoms.
| Therapy Type | Description | Mechanisms | Stage |
| Gene Replacement Therapy | Functional copy of defective gene sent to targeted photoreceptors. | Restore gene function to slow or stop disease progression. | Clinical trials: NCT01367444, NCT03252847, NCT03116113, NCT03316560 |
| Gene Silencing | Lower expression of specific allele responsible for dominant mutations. | Reduce negative impact of mutant protein by decreasing its synthesis. | Preclinical |
| Gene Editing | Use methods like CRISPR/Cas9 to change specific genetic sequences. | Permanently fix damaged genes by repairing broken nucleotide sequences. | Preclinical |
| Small Molecule Therapies | Target specific biochemical pathways altered by CRD mutations. | Reduce harmful substance accumulation while photoreceptors are still functional. | Preclinical |
Disclaimer: Protheragen focuses on providing preclinical research service. This table is for information exchange purposes only. This table is not a treatment plan recommendation. For guidance on treatment options, please visit a regular hospital.
Protheragen's state-of-the-art facilities and expertise in molecular genetics, retinal imaging, and electroretinography enable us to provide cutting-edge solutions for CRD diagnostics and therapeutics development. We also specialize in the development of gene-based therapies and small-molecule strategies tailored to the specific genetic mutations underlying CRD.
therapeutics. Our team of experts utilizes advanced techniques such as next-generation sequencing, retinal imaging, and electroretinography to provide comprehensive preclinical evaluations. If you are interested in our services, please feel free to contact us.
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