The Breakthrough That Brought Tears
Huntington’s disease is a genetic disorder that profoundly affects both the brain and body, and is one of the most brutal and devastating diseases which has just been treated for the first time through gene therapy trials. The disease is a genetic disorder caused by a mutation in the HHT gene. It passes through generations, and triggers Parkinson's, dementia and motor neurone disease. The disease sparked emotion in researchers after their findings showed that the disease has been slowed in 75% of all patients treated. Typically effects of the treatment would wear off in one year but their latest discoveries show benefits up to four years.
Fighting Back: The Treatments Giving Hope
Huntington’s disease is treated through a specific gene therapy called AMT-130. The treatment uses a type of modified virus called Adeno associated virus which delivers genetic material that significantly reduces the levels of the mutant Huntingtin (mHTT) which damages brain cells and is the main cause of the disease. Previous research shows that the disease itself is autosomal dominant, meaning a child of an affected parent (carrier) has a fifty percent chance of inheriting the condition.
What are the symptoms?
Signs of the disease typically appear around the age thirty to forty years old. Early symptoms often include a variation of cognitive issues such as changes in thinking and difficulty concentrating. In addition, physical issues can also emerge such as involuntary movements and poor coordination, which drastically worsen over time.
Diagnosing Huntington’s
Doctors diagnose Huntington’s through a combination of genetic testing, medical evaluation and an assessment of family medical history. Genetic testing confirms the presence of a mutation in the HHT gene, which causes the disease. Alongside this, family history is checked to provide the doctors insight of the severity of the symptoms.
Progress and future treatments
The advances in medical technology are steadily moving towards more effective treatments and potential cures. While other gene therapy treatments work on slowing the progression of the disease, continuing scientific approaches offer possibilities of not just controlling the disease but preventing or reversing the effects.
