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Get to know "Gosher", a rare genetic disease found in Thailand.



Get to know "Gosher", a rare genetic disease found in Thailand, life threatening from childhood. But found in adults as well
What is Gosher disease?

Genetic Medicine Group And the LSD Genetic Disease Foundation states that Gaucher Disease is a rare genetic disease with an incidence of less than 1 per 100,000 population. Brosides are defective.

The disease is most likely to occur in people who have both borne parents. Without knowing that he was a carrier because the carrier showed no symptoms But can pass abnormal joker gaming genes to their offspring Causing a 25% chance of having children with the disease in every pregnancy

Gosher syndrome symptoms
The nature of the disease includes

- Liver enlargement
- enlarged spleen
- pale
- Low blood platelets cause easy bleeding
- low white blood cells
- thin bones
- Ischemic Bones
- bone pain
- broken bones
- If you are a type 2 or type 3 Gosher, you will have abnormal eye muscles. And brain symptoms can be accompanied by such as seizures, strabismus, slow development or worsening development.

Gosher disease treatment

Type II Gocher cases usually die at the age of less than 2 years, according to Thailand data, the third type is usually the third type and the second is type 1, so the patient should be diagnosed with a doctor. And fast Including an early enzyme replacement drug To help treat symptoms That happened to return to normal At the same time, the bone marrow transplantation treatment This is another treatment approach to reduce the risk of developing neurological symptoms later. In addition, Gosher drugs have already been included in the NHSO main drug list. This makes it easier for patients in Thailand to access the treatment of Gosher disease.

Prof. Dr. Duangrudee Wattanasirichaikul Head of Genetic Medicine Department of Pediatrics Ramathibodi Hospital Mahidol University revealed that Gosher disease is caused by an abnormal gene. Causing the body to lack enzymes There are currently 3 methods of treatment:

1. How to give enzyme replacement every 2 weeks for the rest of life.
2. Methods of bone marrow or blood stem cell transplantation So that the body can make its own enzymes And can be cured from Gosher disease
3. Substrate Reduction Therapy (SRT) to reduce the accumulation of precursors that are harmful to body cells.

In Thailand, most cases of severe symptoms, enzyme therapy and bone marrow transplantation are often used, whereas SRT drugs are suitable for mild Gocher 1. And no drugs have been imported into Thailand Nowadays, cases of less severe adult Gosher syndrome are starting to develop. It is interesting whether in the future, SRT drugs may be introduced to this group of patients in Thailand or not.

But with medical innovation As a result, research studies have begun to find new treatments, including

1. Gene Therapy or Gene Therapy is to make the body create its own enzymes by altering the abnormal genetic makeup to return to work. Using their own cells Immunotherapy is not required and it is cured. Will this method be better to prevent brain symptoms than bone marrow transplantation? It is not yet known when the success and realization of Gosher disease by gene therapy is unknown. Although there are currently many genetic diseases that can be cured with gene therapy. It is the hope that in the future, Gosher It may be able to be treated with this method as well.

2. The invention of a drug called Chaperone Therapy is a method that does not need to modify genes. Rather, it helps the abnormal enzymes work better enough to reduce the severe symptoms of the disease. Which is still in the research stage

Diagnosis of Gosher Syndrome Considered to be very outstanding in the Biomarker or biomarkers. Originally diagnosed Gosher By using enzymes and then testing the genes, Biomarker diagnostics are very accurate. Can clearly identify who has the disease or not. And can also be used to monitor treatment results In foreign countries, it has been used as a guideline, and it is expected that in Thailand, biomarker diagnostics will be started next year, likely starting from Ramathibodi Hospital. This is because the genes are identified in the Gosher type. Can check who is the carrier Including examination of the fetus Or can plan to prevent having a child suffering from the disease

However, there are still significant challenges in raising awareness and awareness of Gosher disease. The number of patients spread across the country. And general doctors still do not understand Gosher disease Therefore, proactive work and cooperation is essential to the effective diagnosis and treatment of Gosher disease.