The most common inherited eye disease is retinitis pigmentosa (RP). X-linked RP (XLRP) is one of the most severe types of RP, with a considerable disease burden. Patients with XLRP experience a decrease in their vision and become blind in their 4th decade of life, causing much morbidity after starting a rather normal life. Treatment of XLRP remains challenging, and current treatments are not effective enough in restoring vision. Gene therapy of XLRP, capable of restoring the functional RPGR gene, showed promising results in preclinical studies and clinical trials; however, to date, no approved product has entered the market. The development of a gene therapy product needs through preliminary assessment of the drug in animal models before administration to humans. In this article, we reviewed the genetic pathology of XLRP, along with the preclinical aspects of the XLRP gene therapy, animal models, associated assessments, and future challenges and directions.

Background: Insufficient amounts of survival motor neuron protein is leading to one of the most disabling neuromuscular diseases, spinal muscular atrophy (SMA). Before the current study, the detailed characteristics of Iranian patients with SMA had not been determined. Objective: To describe the key demographic, clinical, and genetic characteristics of patients with SMA registered in the Iranian Registry of SMA (IRSMA). Methods: IRSMA has been established since 2018, and the demographic, clinical, and genetic characteristics of patients with SMA were recorded according to the methods of treat neuromuscular disease (TREAT-NMD) project. Results: By October 1, 2022, 781 patients with 5q SMA were registered. Of them, 164 patients died, the majority of them had SMA type 1 and died during the first 20 months of life. The median survival of patients with type 1 SMA was 23 months. The consanguinity rate in 617 alive patients was 52.4%, while merely 24.8% of them had a positive family history. The most common type of SMA in live patients was type 3. Morbidities were defined as having scoliosis (44.1%), wheelchair dependency (36.8%), tube feeding (8.1%), and requiring mechanical ventilation (9.9%). Most of the registered patients had a homozygous deletion of SMN1, while the frequency of patients with higher copy numbers of SMN2, was less in more severe types of the disease. Earlier onset of the disease was significantly seen in patients with lower copy numbers of SMN2. The neuronal apoptosis inhibitory protein (NAIP) gene deletion was associated with a higher incidence of more severe types of SMA, higher dependency on ventilators, tube feeding, and earlier onset of the disease. Conclusions: The IRSMA is the first established Iranian nationwide registry of patients with SMA. Using this registry, decision-makers, researchers, and practitioners can precisely understand the epidemiology, characteristics, and genetics of patients with SMA in Iran.

In this study the significant differentially expressed genes (DEGs) related to gastric cancer (GC) and chronic gastritis were screened to introduce common and distinctive genes between the two diseases. Diagnosis of gastric cancer as a mortal disease and chronic gastritis the stomach disorder which can be considered as risk factor of GCs required safe and effective molecular biomarkers. Microarray profiles were downloaded from Gene Expression Omnibus (GEO) and analyzed via GEO2R. The candidate DEGs plus relevant genes from STRING database were interacted by Cytoscape software version 3.6.0 the central nodes were determined and analyzed. JUN, GAPDH, FOS, TP53, PRDM10, VEGFA, and CREB1 as central nodes and TFF1 and ERG1 as the top changed expressed genes were determined as critical nodes related to gastric cancer. GAPDH, PRDM10, TP53, JUN, AKT1, EGFR, MAPK1, EGF, DECR1, and MYC were identified as common remarkable genes between GC and chronic gastritis. Identification of distinctive and common genes between GC and chronic gastritis can be useful in the early stage detection of disease and reducing risk of GCs.

Neovascularization in ocular vessels causes a major disease burden. The most common causes of choroidal neovascularization (CNV) are age-related macular degeneration and diabetic retinopathy, which are the leading causes of irreversible vision loss in the adult population. Vascular endothelial growth factor (VEGF) is critical for the formation of new vessels and is the main regulator in ocular angiogenesis and vascular permeability through its receptors. Laser therapy and antiangiogenic factors have been used for CNV treatment. Bevacizumab, ranibizumab, and aflibercept are commonly used anti-VEGF agents; however, high costs and the need for frequent intraocular injections are major drawbacks of anti-VEGF drugs. Gene therapy, given the potency of one-time treatment and no need for frequent injections offers the real possibility of such a lasting treatment, with fewer adverse effects and higher patient quality of life. Herein, we reviewed the role of gene therapy in the CNV treatment. In addition, we discuss the advantages and challenges of current treatments compared with gene therapy.