Publication date: Jun 29, 2025
With the rapid progress in genetic science, especially over the past two decades, our ability to understand, diagnose, and treat rare diseases has greatly improved. Rare diseases affect millions of people worldwide, often leaving patients and families without answers, treatments, or hope. Most rare diseases are genetic in origin, meaning they are caused by mutations or changes in a persons DNA. The treatment, though extremely expensive, has shown life-saving results. Similarly, personalized medicine uses genetic information to tailor treatments to an individuals specific mutation. This approach increases the chances of success and reduces unwanted side effects. Carrier Screening and PreventionGenetics also plays a role in preventing the occurrence of rare diseases. As science advances, the future looks more promising for patients living with rare genetic disordersand for the generations yet to come. In 2019, the U. S. FDA approved Zolgensma, a gene therapy for spinal muscular atrophy (SMA), a deadly rare disease in infants.
| Concepts | Keywords |
|---|---|
| Crispr | Conditions |
| Fibrosis | Diagnosis |
| Genetics | Disease |
| Medicineone | Diseases |
| Early | |
| Faulty | |
| Genetic | |
| Individuals | |
| Mutation | |
| Progress | |
| Rare | |
| Symptoms | |
| Testing | |
| Therapies | |
| Treatments |
Semantics
| Type | Source | Name |
|---|---|---|
| pathway | REACTOME | Fertilization |
| drug | DRUGBANK | Spinosad |
| disease | MESH | spinal muscular atrophy |
| disease | MESH | Rare Diseases |
| drug | DRUGBANK | Nonoxynol-9 |
| disease | MESH | genetic diseases |
| disease | MESH | cystic fibrosis |
| disease | MESH | Duchenne muscular dystrophy |
| drug | DRUGBANK | Tropicamide |