According to a story from Business Wire, the company CENTOGENE, which is dedicated to researching rare genetic disease, will be partnering with the biotech company Aldeyra Therapeutics, Inc. This partnership will involve an effort to identify patients with Sjögren-Larsson syndrome (SLS) across the world as well as further research to understand the full range of clinical presentation of this syndrome. The companies hope to help both caregivers and patients by using genetic testing to help diagnose patients earlier. This could possibly allow for all-new, innovative treatments for SLS to be developed as well as help spread greater awareness about the disease.
SLS is a rare genetic disorder that causes the formation of thickened, dry, scaly skin. Other symptoms of SLS include developmental delays, mild to moderate intellectual disability, speech problems, seizures, itching, leg spasms, and neurological issues that can cause leg paralysis. A number of mutations have been identified that cause the syndrome, and it is caused by a deficiency of the fatty aldehyde dehydrogenase enzyme. SLS has not received extensive study, and there is currently no officially approved treatment for the syndrome. To learn more about SLS, click here.
Dr Arndt Rolfs, who founded CENTOGENE and is currently the CEO, says that awareness of SLS in the medical community is so poor that many doctors do not suspect is as a possibility, and as a result do not even conduct the necessary genetic testing that would allow them to correctly diagnose it.
This is unfortunately a problem that many rare disease patients have to face. It can often take months or years before many patients are diagnosed correctly. All the while, they have to waste time and money on multiple appointments. If their condition is progressive, this window of time can often mean the difference between being able to manage the disease effectively to having to face a lifelong struggle with debilitating symptoms. This is why simply being aware of the genetic syndrome like SLS is critical, especially for medical professionals.
Once CENTOGENE has developed a database of SLS patients, Aldeyra will have the information it needs to begin the process of drug development and research.
