New FDA Approved Therapy for Children Battling Muscular Dystrophy

     Muscular dystrophy (MD) is a group of genetic disorders that are characterized by progressive weakness and degeneration of the skeletal muscles. The skeletal muscles control the movement within the body. This severe condition is caused by mutations in genes that are responsible for the structure and function of the muscle cells. Some types of MD manifest early on in one's childhood, but this is not always the case. It is more than devastating to see that so many kids suffer from MD whilst there being no cure to this day, though scientists have been working on different potentially effective therapies for children. 

    In June 2023, it was announced that the FDA had approved the very first gene therapy for children (ages 4-5). The gene therapy includes using " a shortened form of the dystrophin gene. This microdystrophin gene produces a protein about one-third the size of the original protein. The shortened gene is packed into harmless viruses for delivery to muscle cells." Though, this is not a cure, it can most definitely help benefit the young lives of those who are suffering from MD.

    It is scary to think so many of the common day diseases still have not been cured, but it's very beneficial to see that scientists are working for therapies in the meantime to increase the living quality of those suffering. It will be interesting to see what improvements scientists continue to make as time goes on and hopefully there will be a cure in the near future.

https://www.mayoclinic.org/diseases-conditions/muscular-dystrophy/symptoms-causes/syc-20375388

https://www.sciencenews.org/article/first-gene-therapy-muscular-dystrophy-kids

Most of today’s gene therapies rely on viruses

 Most of today’s gene therapies rely on viruses

    This article details the case of 10-year-old Will Ungerer, who has Duchenne muscular dystrophy and received an experimental gene therapy at age 5 where functional gene copies are introduced in the patient’s cells to replace or supplement defective or absent genes. Due to this therapy, he had significant improvements in his physical abilities such as climbing stairs. Although gene therapy is effective there are many challenges such as safety concerns, delivery methods, and the high costs of treatment. “The FDA has approved seven other gene therapies for rare genetic diseases, all since 2017,” showing that ongoing clinical trials and regulatory processes make it hard for gene therapy to get approved. The second article discusses some potential benefits of gene therapy such as treating inherited disorders like cystic fibrosis and certain cancers, with some therapies already FDA-approved for conditions like Leber congenital amaurosis and blood cancers. However, they can also carry risks such as cancer and allergic reactions, leading to FDA approval for some gene transfer therapies and ongoing research into genome editing.

    Gene therapy represents a significant breakthrough in medical science, offering hope for patients with genetic disorders like Duchenne muscular dystrophy. The ability of gene therapy to introduce functional gene copies directly addresses the root cause of many genetic diseases, leading to great improvements in patients suffering from physical disabilities. However, the challenges related to safety, delivery methods, and especially the high costs pose significant barriers to its widespread adoption and accessibility. The FDA's cautious approach in approving gene therapies, while ensuring patient safety, may slow the availability of these potentially life-altering treatments; however, those measures are necessary for the future of personalized medicine. I believe that more money should be invested in research aimed at improving gene therapy since every patient is different and the best treatment is one that is targeted to a patient’s specific genes.

https://www.sciencenews.org/article/gene-therapy-virus-crispr-editing-disease

https://www.nhlbi.nih.gov/health/genetic-therapies/benefits-risks

23andMe Sell Genetic Test

For the first time in United States the Food and Drug Administration (FDA) allows the company 23andMe to sell genetic test directly to the public. The Ancestry and Health test is sold for $199 and will allow the customer to know which mutation increases their risk for certain diseases. The test is made simple for the customer, they just spit into a tube and mail it away. 23andMe will extract the DNA from saliva cells and find genetic markers using a special chip for genotyping. The customers will receive the results within 6-8 weeks with 10 common diseases and the information educating them. Some disease indicators tested are celiac disease, Gaucher disease type 1 and factor XI deficiency.

I think this can reduce the costs of health care because you no longer have to see your primary doctor which in turn will refer you to genetic doctor. It’s a time and money saving approach. Although as convenient as it seems it might cause some people to get upset or overreact. They might think that just because the have a genetic indicator they WILL have the disease.   

FDA Approves at Home DNA Test for 10 Diseases

     

http://www.npr.org/sections/health-shots/2017/04/07/522897473/fda-approves-marketing-of-consumer-genetic-tests-for-some-conditions

http://time.com/4729600/fda-approval-23andme-dna-tests/

       The FDA has finally approved its very first at home genetic testing kit from the company 23andMe. 23andMe have attempted at home genetic testing kits in the past, however they were stopped due to inaccurate results and other complications. This kit is said to help test for 10 different diseases which includes Parkinson's, Late-onset Alzheimer's, Celiac disease, Alpha-1 antitrypsin deficiency, Early-onset primary dystonia, Factor XI deficiency, Gaucher disease type 1, Glucose- 6 phosphate dehydrogenase deficiency, Hereditary hemochromatosis, and Hereditary thrombophilia. 

      This at home kit is a great way for people to find out the answers they want while in the comfort of their own home. However, it is being stressed to consumers that this not the ultimate final answer. Genetics are not the only factor when it comes to diseases. The environment, lifestyle choices, and diet are just a few different factors that play a large role in determining whether or not a person will get a disease. 

       After hearing the news about this kit, the National Institute on Aging has stated that it is very unlikely for genetic testing to ever predict with accuracy Alzheimer's disease since there are multiple factors that lead to the progression of it. There is a positive outlook for this at home testing kit and the hopes for more kits for different diseases in the near future. 

23andMe given green light to sell DNA for 10 diseases

 
The FDA has now allowed 23andMe to market for tests for 10 genetic conditions including Alzheimer's and Parkinson’s diseases, coeliac disease and thrombophilia. Until 2013, the company offered DNA testing for certain medical conditions, but the FDA ordered 23andMe to halt the service out of concern users would take the results as medical advice. This genetic testing is not equivalent to a medical diagnosis, because environment, personal health and family history all affect risk of developing a disease. This appears to be a step in the right direction for an improvement in healthcare, and while this test is not provided by a physician or genetic counselor, it will give people further information about any potential medical conditions.
FDA Approval 
23andMe