New Development of Diagnosis Method That Detects The Causal Gene of Hundreds of Hereditary Bone Diseases
Hit : 1,144
Date : 2016-07-11
New Development of Diagnosis Method That Detects The Causal Gene of Hundreds of Hereditary Bone Diseases
- Research team led by Dr. Tae-Joon Cho, publishes an article in Genetics in Medicine, an international journal in genetic medicine
A Korean research team developed a method that diagnoses all genes that are identified as hereditary bone diseases.
The research team led by professor Tae-Joon Cho from Pediatric Orthopedics team of Seoul National University Children‘s Hospital and professor Ok-Hwa Kim from Department of Radiology from Our Children’s Hospital, published their results in September web edition of Genetics in Medicine, a well-respected international journal in genetic medicine.
The methodology, named as targeted exome sequencing (TES), identifies 255 genes related to hereditary bone diseases from a patient‘s blood sample, and analyzes any existence of mutations through new-generation sequencing method.
In the perspective of the patient, he can check any hereditary bone diseases with a single blood test.
To analyze the effectiveness of the method, the research team registered 185 patients confirmed or suspicious of hereditary bone diseases such as osteogenesis imperfecta and multiple epiphyseal dysplasia.
The patients were divided into three groups. Group A (96 patients) were comprised of patients whose diseases were identifiable through clinical examination and who sought to confirm the illness; Group B (64 patients) consisted of patients that were uncertain whether they had a hereditary bone disease or what disease of the hereditary bone disease they had through clinical examination; Group C (25 patients) consisted of patients that were confirmed a gene mutation through prior genetic tests.
The research team conducted the newly developed genetic test to these three groups.71 patients in Group A (74%), 13 patients in Group B (20.3%) were discovered the causative gene mutation and confirmed genetic diagnosis. 13 of the Group B patients found the reason for the illness when they were not even able to identify what the exact illness was. The path has opened to detect the gene mutation in patients with rare disease, or adult and paediatric patients having a hard disease to diagnose through clinical examination.
100% (25 patients) of Group 3 confirmed the same genetic mutations with prior genetic tests, proving the method‘s reliability.
Professor Cho stated, “Using the next-generation sequencing method enables us to test so much more genes than before, while reducing costs. In addition, the fact that this new method tests all genes related to hereditary bone diseases without tedious genetic tests, helps the medical community a lot.”
- Research team led by Dr. Tae-Joon Cho, publishes an article in Genetics in Medicine, an international journal in genetic medicine
A Korean research team developed a method that diagnoses all genes that are identified as hereditary bone diseases. The research team led by professor Tae-Joon Cho from Pediatric Orthopedics team of Seoul National University Children‘s Hospital and professor Ok-Hwa Kim from Department of Radiology from Our Children’s Hospital, published their results in September web edition of Genetics in Medicine, a well-respected international journal in genetic medicine.
The methodology, named as targeted exome sequencing (TES), identifies 255 genes related to hereditary bone diseases from a patient‘s blood sample, and analyzes any existence of mutations through new-generation sequencing method.
In the perspective of the patient, he can check any hereditary bone diseases with a single blood test.
To analyze the effectiveness of the method, the research team registered 185 patients confirmed or suspicious of hereditary bone diseases such as osteogenesis imperfecta and multiple epiphyseal dysplasia.
The patients were divided into three groups. Group A (96 patients) were comprised of patients whose diseases were identifiable through clinical examination and who sought to confirm the illness; Group B (64 patients) consisted of patients that were uncertain whether they had a hereditary bone disease or what disease of the hereditary bone disease they had through clinical examination; Group C (25 patients) consisted of patients that were confirmed a gene mutation through prior genetic tests.
The research team conducted the newly developed genetic test to these three groups.71 patients in Group A (74%), 13 patients in Group B (20.3%) were discovered the causative gene mutation and confirmed genetic diagnosis. 13 of the Group B patients found the reason for the illness when they were not even able to identify what the exact illness was. The path has opened to detect the gene mutation in patients with rare disease, or adult and paediatric patients having a hard disease to diagnose through clinical examination.
100% (25 patients) of Group 3 confirmed the same genetic mutations with prior genetic tests, proving the method‘s reliability.
Professor Cho stated, “Using the next-generation sequencing method enables us to test so much more genes than before, while reducing costs. In addition, the fact that this new method tests all genes related to hereditary bone diseases without tedious genetic tests, helps the medical community a lot.”