It is very difficult to diagnose or monitor rare genetic diseases in patients. For instance, Gaucher disease is an autosomal recessive aberration leading to error in glycosphingolipid metabolism.
The necessity of diagnosis and prognosis of gba1 associated diseases leads to the use of glucosylsphingosine (lyso-Gb1) as the trusted biomarker that can help a lot in the treatment process. Researchers all across the globe are using the biomarker for progress in the treatment plans for the condition.
More about Gaucher disease treatment
Gaucher disease is the result of the functional deficiency in the lysosomal enzyme beta-glucocerebrosidase. It is a variant of the GBA 1 gene. As the disease is a very common lysosomal storage disorder, the number of reported cases is higher than in other forms of diseases.
- Deficiency of GBA leads to progressive accumulation of the glucosylceramide or Gb1 substrate along with the continuous build-u[ of the related glycosphingolipids.
- This accumulation happens in the mononuclear phagocytes or the reticuloendothelial cells.
- These will transform into the Gaucher cells that have an exclusive macrophage phenotype.
Although there are numerous phenotypes associated with GD, the diseases have primarily three categories:
- Type 1 which is the non- neuronopathic disorder common in Caucasians,
- Type 2 which is the acute neuronopathic form occurring in the young children
- Type 3 which is the subacute neuronopathic variant leading to neurological manifestation in children.
The development of the biomarkers has helped millions of patients suffering from GD to receive better treatments.
Treating prion diseases
Prion diseases are a group of rare neurodegenerative disorders affecting animals and humans. These can be:
- Acquired: using contaminated medical equipment or eating contaminated food.
- Inherited: Via mutations in the genetic code for PrP
- Sporadic: no particular cause for misfolding or the PrP.
Researchers are still working hard to understand the reasons that cause the prion disease to come up with better plans for prion disease treatment USA. However, there has been notable progress in the treatment approach owing to the consideration of the disease in new ways.
Current treatment plans
To date, there is no specific cure for prion disease. But there are certainly many improvements in the supportive care plans, helping the patients to handle their situations better.
Some medicines are helping the patients to cope better with the conditions. These include:
- Opiate medication for pain relief
- Antidepressants or sedatives to reduce the psychological symptoms
- Sodium valproate for easing muscular spasms.
The Allosteric Drug Discovery USA is always a notable development that has improved the path to prion disease treatment.
With the advancement of the disease, many patients will need support to perform their daily activities.
- Proper nutrition
The addition of the right nutrients at the right stages of the disease including IV fluids will provide better support.
Ray of hope
The different approaches to treatment plans have certainly enhanced the ray of hope when it comes to the diagnosis and care treatment plans for gba1 associated diseases. You should consult with the top clinical sources like Gain Therapeutics to get the most advanced support through treatment.