There are more than 7,000 paediatric genetic diseases (PGDs) but less than 5% have treatment options. Treatment strategies targeting different levels of the biological process of the disease have led to optimal health outcomes in a subset of patients with PGDs, where treatment is available. In the past 3 decades, there has been rapid advancement in the development of novel therapies, including gene therapy, for many PGDs. The therapeutic success of treatment relies heavily on knowledge of the genetic basis and the disease mechanism. Specifically, gene therapy has been shown to be effective in various clinical trials, and indeed, these trials have led to regulatory approvals, paving the way for gene therapies for other types of PGDs. In this review, we provide an overview of the treatment strategies and focus on some of the recent advancements in therapeutics for PGDs.
Child ; Humans ; Genetic Diseases, Inborn/therapy* ; Genetic Therapy

Hereditary disease, especially monogenic disease is one of the major causes for malformation and disability of children. Most hereditary diseases have no effective therapy besides clinical symptomatic treatment. Biological techniques targeting casual genes or related signaling genes, such as transgenic, RNA interfere, genome editing, have been successfully applied in treating some hereditary diseases. However, most biological, treatments were carried out in animals, further confirmation of the effectiveness and safety of these therapies, and development of more therapeutic approaches based on mechanisms are needed before clinical trials.
Animals ; Biological Therapy ; Disease Models, Animal ; Genetic Diseases, Inborn ; therapy ; Genetic Therapy ; Humans

The advancement and popularization of molecular diagnostic techniques has challenged and redefined the traditional concept of genetic metabolic disease. Regardless of disease origin, all genetic defects that lead to hepatobiliary dysfunction or structural abnormalities are termed as genetic liver disorders. Online Mendelian Inheritance in Man (OMIM) is a database consisting 693 genetic diseases with clear molecular mechanism of liver related phenotypes. Moreover, the effective measures to control infectious liver disease have strengthened the importance of research in the field of (adult and children) genetic liver disorders at home and abroad by well-recognized hepatologists. Notably, all patients with unexplained hepatopathy and multiple system diseases involving liver and gallbladder needs screening for genetic liver disorders, except for factors such as infection, immunity, drug-related, and anatomical abnormalities. We hope more patients with complicated liver disorders will benefit from definitive diagnosis and effective treatment in the near future with clear explanation of clinical phenotype, genotype, and metabolomics.
Child ; Databases, Genetic ; Genetic Diseases, Inborn ; Genotype ; Humans ; Liver Diseases/therapy* ; Phenotype

Genetic Diseases, Inborn ; economics ; prevention & control ; therapy ; Humans ; Metabolic Diseases ; economics ; prevention & control ; therapy

Early Diagnosis ; Early Intervention (Education) ; methods ; trends ; Genetic Diseases, Inborn ; diagnosis ; therapy ; Humans ; Research ; trends

The number of offspring conceived by assisted reproductive technology (ART) has reached over 5 million. As the primary means for treating infertility, the health of offspring produced by ART has been a long concern. Both procedures of ART and factors underlying infertility can lead to epigenetic changes which can cause certain diseases. This paper has reviewed diseases noted among offspring conceived by ART, which include imprinting disorders, metabolic syndromes and cancers. We also tried to explore the pathogenesis of such diseases from an epigenetic perspective, which may help with evaluation the influence of ART on the offspring and its safety for application.
Epigenesis, Genetic ; Genetic Diseases, Inborn ; genetics ; Genetics, Medical ; Humans ; Infertility ; therapy ; Pedigree ; Reproductive Techniques, Assisted ; adverse effects

Familial adenomatous polyposis (FAP) is a hereditary disease characterized by the appearance of numerous polyps in the large bowel with a high potential for malignant transformation unless untreated. A variety of extracolonic manifestations were reported such as osteoma, epidermoid cyst, desmoid tumor, gastroduodenal polyps, small bowel tumor, congenital hypertrophy of the retinal pigment epithelium, hepatobiliary tumor, thyroid tumor, and tumor of the central nervous system. However, the ovarian involvement of FAP as an extracolonic manifestation was very rare and there have been only few reports. We experienced a rare case of ovarian cystadenofibroma in a patient with FAP as an extracolonic manifestation. We also found colon cancer with multiple hepatic metastasis initially manifested as intestinal obstruction in the same patient. Surgical treatment and subsequent chemotherapy for colon cancer and intraoperative radiofrequency ablation of hepatic metastasis were performed.
Adenomatous Polyposis Coli* ; Catheter Ablation ; Central Nervous System ; Colonic Neoplasms ; Cystadenofibroma* ; Drug Therapy ; Epidermal Cyst ; Fibromatosis, Aggressive ; Genetic Diseases, Inborn ; Humans ; Hypertrophy ; Intestinal Obstruction ; Neoplasm Metastasis ; Osteoma ; Polyps ; Retinal Pigment Epithelium ; Thyroid Gland