COPA Syndrome Cured? Protective Gene Breakthrough Sparks Hope
United States: The medical experts have identified a genetic variant that constitutes protection against COPA Syndrome enabling prospects for transformative gene treatments.
This discovery offered families whose lives had endured the disease both an understanding of its nature and prospects of future improvement.
About COPA syndrome
Throughout 15 years, Dr. Anthony Shum studied a unique genetic disease that produces unexpected consequences for affected families.
The mutation causes specific persons to experience severe lung hemorrhage in childhood, yet other individuals who possess the mutation show no symptoms.
Through his research team, Shum discovered another genetic variant that stops COPA syndrome from developing, scitechdaily.com reported.
Scientific progress enables the possible development of a gene therapy solution for managing a medical condition that needs extensive medical care under immunosuppressant drug treatment.
Scientists found that some family members of individuals with COPA syndrome managed to avoid developing the condition even though they inherited the pathological COPA mutation.
What are the reasons behind this?
There was another gene with a protective variant that they carried named HAQ-STING.
Scientists were able to increase the health of lung cells with the diseased COPA lung cells by adding this protective genetic element.
According to Shum, the senior author of the paper, which was published on February 27 in the Journal of Experimental Medicine, “We really think HAQ-STING could be a gene therapy tool and a clear step toward a cure,” scitechdaily.com reported.
How did experts reach the conclusion?
A physician at UCSF, Helen Diller Medical Center, phoned Shum to support a patient in the emergency room in 2011.
Letasha, the patient, consisted of a young female who suffered from extensive blood loss in her lungs.
Medical specialists could not determine the origin of Letasha’s health condition. The discovery that the mother, Betty Towe, shared with Shum the similar symptoms of her daughter Kristina initiated his genetic cause hypothesis.
The two sisters, Kristina and Letasha, have visited UCSF since birth for medical treatment of their unusual lung bleeding disorder and rheumatoid arthritis. Betty Towe made every UCSF trip with her daughters since they lived four hours away from Oakdale, California.
During his assistance at UCSF, Shum investigated to see to what extent symptoms affected members of their family tree. Shum established a position as their main pulmonology physician.
As per Letasha, who is now 43, “My mom’s cousin mentioned that we had distant relatives in Texas, third cousins, who had a young daughter with lung problems and arthritis, and other relatives in Oakland with similar problems.”
“Dr. Shum took blood samples from all of us and started to connect the dots,” she added.
