Target Identification Services for Rare Childhood Diseases
Protheragen, as a preclinical research service provider, can significantly accelerate the process of studying the genes responsible for rare childhood diseases, helping researchers to overcome the challenges and advance the development of new therapies.
Identification of Genes for Rare Childhood Diseases
In recent years, the application of gene sequencing technology in the diagnosis of rare diseases in children has made remarkable progress, but there are still some challenges and problems. Secondly, the complexity and multi-systemic nature of rare diseases makes the development of rare disease drugs and the use of orphan drugs also face many difficulties.
Figure 1. Schematic representation of next-generation sequencing results. (Boycott KM, et al., 2014)What Are the Genes Responsible for Rare Childhood Diseases?
The causative genes for rare childhood diseases are very diverse and involve multiple genetic mechanisms and mutations. Some specific causative genes and their associated diseases are listed below.
| Diseases | Pathogenic gene |
| Phenylketonuria (PKU) | Phenylalanine hydroxylase (PAH) gene |
| Albinism | Tyrosinase gene |
| Gordon syndrome | WNK1, WNK4, KLHL3, and CUL3 |
| Propionic acidemia | PCCA and PCCB |
| Hemophilia A | F8 gene |
| Fragile X syndrome | FMR1 |
| Tuberous sclerosis complex | TSC1 and TSC2 |
| Neonatal diabetes | ABCC8 and KCNJ1 |
| Jeune syndrome | IFT80 (3q25. 33), DYNC2H1 (11q22. 3), WDR19 (4p14) and TTC21B (2q24. 3) |
| Severe combined immune deficiency (SCID) | IL2RG, RAG1, RAG2, ADA, DCLRE1C, IL7R, and JAK3 |
| Chronic granulomatous disease (CGD) | CYBB |
| Vici syndrome | EPG5 |
| Urea cycle disorders (UCDs) | CPS1, OTC, ASS1, ASL, ARG1, NAGS, ORNT1, or citrin |
Do You Face Any of the Following Challenges When Studying Pathogenic Gene for Rare Childhood Diseases?
- Genetic heterogeneity
- Phenotypic diversity
- Lack of ideal ex vivo and in vivo models
- Technical limitations
- Need for multidisciplinary collaboration
- Difficulty in therapeutic development
Protheragen specializes in providing comprehensive preclinical research services for pediatric rare disease research, helping you to locate disease-causing genes faster and more accurately, and accelerating the development of diagnostic and therapeutic options for rare diseases.
Our Services
Pathogenic Gene Analysis for Rare Childhood Diseases
Our Methods for analyzing the causative genes of rare diseases include the following technical tools and strategies:
- High-throughput sequencing technologies, including whole genome sequencing (WGS), whole exome sequencing (WES), and targeted sequencing (TS)
- Gene chip technology
- Fluorescence in situ hybridization (FISH)
- Microarray comparative genomic hybridization (aCGH)
- Multiplex ligation-dependent probe amplification (MLPA)
- Genetic linkage analysis
- Multi-omics technologies including RNA sequencing (RNA-seq), methylation sequencing, transposase accessible chromatin sequencing (ATAC-seq), etc.
- Big data analysis and computational methods
In addition, we provide target identification services utilizing tools from multiple perspectives, including but not limited to:
- Structural genomics
- Functional genomics
- Protein analysis microarray
- Functional protein microarray
- Reverse phase protein microarray
- Bioinformatics
Our approach to pathogenic gene analysis covers everything from traditional genetic testing techniques to modern big data and multi-omics technologies, providing comprehensive research support for the diagnosis and treatment of rare diseases.
Our Capabilities
Rare childhood diseases are characterized by a wide variety of causative genes, covering a wide range of inheritance patterns and gene types. We support the identification of targets for the following diseases:
- Monogenic diseases
- Polygenic disorders
- Diseases caused by abnormalities in chromosome number or structure
- Diseases caused by mutations in mitochondrial DNA
- Diseases caused by structural variations in the genome
Our advanced technologies can help you quickly and accurately identify the causative genes for rare childhood diseases. If you are interested in our services, please feel free to contact us for more information.
References
- Boycott KM, Dyment DA, Sawyer SL, Vanstone MR, Beaulieu CL. Identification of genes for childhood heritable diseases. Annu Rev Med. 2014;65:19-31.
- Kernohan KD, Boycott KM. The expanding diagnostic toolbox for rare genetic diseases. Nat Rev Genet. 2024;25(6):401-415.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.