Commentary - (2022) Volume 6, Issue 4
Received: 01-Aug-2022, Manuscript No. IPACN-22-14177; Editor assigned: 03-Aug-2022, Pre QC No. IPACN-22-14177 (PQ); Reviewed: 17-Aug-2022, QC No. IPACN-22-14177; Revised: 22-Aug-2022, Manuscript No. IPACN-22-14177 (R); Published: 29-Aug-2022, DOI: 10.35248/2471-8505.22.6.4.123
If there are multiple people with the same type of disease in the family, it is said that the disease may be contagious within the family. And some diseases and conditions, sickle cell anemia, which can affect several members of a family, are caused by genetic mutations (also known as mutations) and can be inherited (parent to child). However, there are other diseases and conditions that appear to run in families but are not necessarily caused by individual genetic variants. Instead, environmental factors and individual choices such as diet, pollutants, or a combination of genetic and environmental factors may be the reasons behind the development of the disease, affecting about 10% of the world’s adult population. However, the advent of high-throughput genotyping and massively parallel sequencing, combined with the availability of large datasets of genomic and health information has rapidly advanced our understanding of the genetic basis of kidney function and disease. Treatment of hereditary kidney disease depends on the type of hereditary disease and the stage of kidney disease. Some hereditary kidney diseases are mild and require annual doctor visits to monitor the condition. Other hereditary kidney diseases require daily medications, dialysis several times a week and even kidney transplants. This is a 3-year, prospective, multicenter cohort study to elucidate genotype- phenotype associations in patients with iCKD. A total of 11 medical centers from his 9 tertiary hospitals in South Korea will participate in this study. 7 centers will enroll and collect data on adult patients, and 4 centers will enroll pediatric patients. We established a research team, a statistical analysis team, a database team, sequencing and bio banking team, and a genetic analysis team to carry out this large-scale nationwide project. The research team consists of his 26 clinicians and 15 clinical research coordinators from 11 medical centers. The research team’s role is to recruit suitable patients and collect clinical data. The statistical analysis team supports sample size calculations, enrollment distribution by iCKD subclass, and statistical analysis. A database team collects clinical and genetic data from each patient and creates an electronic case report form for record keeping and management. The database team also performs quantitative and qualitative image analysis from unenhanced Computed Tomography (CT) or Ultrasound examinations. The sequencing and bio banking teams are outsourced to Macrogen, Inc. Whole blood is drawn from each medical center for initial genetic analysis and sequencing data. The remaining DNA samples are prepared for bio banking after quality and quantity checks. Finally, the genetic analysis team consists of bioinformaticians who interpret the sequencing data results and determine the pathogenicity of each variant. In summary, the genetic results of individuals tested with the Renasight test, a broad panel of genes used to assess CKD, kidney stones, and electrolyte abnormalities, have been associated with both common and rare genetic diagnoses. Showed a high rate of positive findings, including our study uncovered cases with confirmed positive findings in multiple genes. These findings demonstrate that a broad panel of renal disease genes is highly effective in identifying single-gene variants underlying hereditary renal disease and aids in genetic diagnostics in nephrology.
None.
The authors declare no conflict of interest.
Citation: Sayer JA (2022) Molecular Genetic Diagnosis of Omani Patients with Inherited Cystic Kidney Disease. Ann Clin Nephrol. 6:123.
Copyright: © 2022 Sayer JA. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
