Genetic diseases are an important branch of rare diseases. Leveraging cutting-edge technology and a team of skilled professionals, our company provides a one-stop solution for the diagnostic development of rare genetic diseases. Our aim is to advance the early detection and precise diagnosis of rare genetic diseases through the development of exceptional diagnostic products.
What are Genetic Diseases?
Rare genetic diseases are conditions caused by gene mutations or abnormalities. Due to genetic heterogeneity and diverse clinical manifestations, rare genetic diseases face significant challenges in diagnosis and are prone to misdiagnosis. While these conditions have a low prevalence in the general population, their impact on human health is profound.
Fig. 1 Genetic testing for rare genetic diseases. (Wang G, et al., 2022)
Pathogenesis of Genetic Diseases
The pathogenesis of rare genetic diseases is diverse and complex. The following are some of the key factors that lead to rare genetic diseases.
Genetic Mutations
Rare genetic diseases are primarily caused by genetic mutations that affect a single gene or multiple genes. Mutation types include point mutations, insertions, deletions, etc.
Inheritance
Rare genetic diseases may be inherited from one or both parents. These diseases follow specific inheritance patterns, such as autosomal dominant, autosomal recessive, and X-linked inheritance.
Chromosome Abnormalities
Rare genetic diseases may also be caused by chromosomal abnormalities, such as deletions, duplications, or translocations of genetic material, which disrupt normal gene function.
Environmental Factors
Environmental factors also influence the disease manifestations. For instance, toxins, chemicals, and radiation may interact with genetic predispositions and impact the development of genetic diseases.
Market Size of Genetic Disease Diagnosis
Genetic testing is a crucial method for diagnosing rare genetic diseases. According to reports, the global genetic testing market was estimated to be around $8.84 billion in 2023, and it is projected to reach approximately $64.73 billion by 2033, with a compound annual growth rate of 22.03% from 2023 to 2033.
Challenges in Genetic Disease Diagnostics
- Genetic heterogeneity is a key characteristic of rare genetic diseases. Identifying the precise gene mutations that cause a particular disease among numerous potential variants requires complex sequencing techniques and expertise in bioinformatics.
- Diverse clinical presentations pose a significant challenge in diagnosing rare genetic diseases. Symptoms of many rare genetic diseases may overlap with common conditions, complicating the diagnostic process and increasing the likelihood of misdiagnosis.
Our Services
Recognizing the challenges of rare genetic disease diagnostics, our company is committed to the diagnostic development of rare genetic diseases to meet the unmet needs in this field. Our expertise lies in the creation of nucleic acid detection reagents and kits specifically designed for rare genetic diseases. With supporting molecular diagnostic equipment, these reagents/kits can achieve accurate and reliable detection, aiding in the timely diagnosis and treatment of rare genetic diseases.
Types of Rare Genetic Diseases
| A-G |
| Achondroplasia |
Cystic Fibrosis |
| Alagille Syndrome |
Duchenne Muscular Dystrophy |
| Alkaptonuria |
Ehlers-Danlos Syndrome |
| Alpha-1 Antitrypsin Deficiency |
Fabry Disease |
| Alport Syndrome |
Familial Hypercholesterolemia |
| Angelman Syndrome |
Fragile X Syndrome |
| Barth Syndrome |
Gaucher Disease |
| H-N |
| Hemochromatosis |
Maple Syrup Urine Disease |
| Hemophilia |
Marfan Syndrome |
| Hereditary Hemorrhagic Telangiectasia |
Myotonic Dystrophy |
| Huntington's Disease |
Neurofibromatosis |
| Lesch-Nyhan Syndrome |
Neurofibromatosis Type 1 |
| Long Qt Syndrome |
Noonan Syndrome |
| O-S |
| Oculocutaneous Albinism |
Retinitis Pigmentosa |
| Phenylketonuria |
Rett Syndrome |
| Polycystic Kidney Disease |
Roberts Syndrome |
| Pompe Disease |
Sickle Cell Disease |
| Prader-Willi Syndrome |
Smith-Lemli-Opitz Syndrome |
| Primary Ciliary Dyskinesia |
Spinal Muscular Atrophy |
| T-Z |
| Tay-Sachs Disease |
Wilson's Disease |
| Von Hippel-Lindau Disease |
X-Linked Adrenoleukodystrophy |
| Wilson Disease |
X-Linked Agammaglobulinemia |
Our Diagnostic Development Services
To enable rapid diagnosis of rare genetic diseases, we provide point-of-care test and companion diagnostics development services. These services help streamline the identification of genetic disorders, leading to faster and more accurate treatment decisions for patients.
If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
References
- Wang G, Xu Y, Wang Q, et al. Rare and undiagnosed diseases: from disease-causing gene identification to mechanism elucidation[J]. Fundamental Research, 2022, 2(6): 918-928.
- Boycott K M, Rath A, Chong J X, et al. International cooperation to enable the diagnosis of all rare genetic diseases[J]. The American Journal of Human Genetics, 2017, 100(5): 695-705.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
