Hereditary Angioedema Discovery is First Step Toward Gene Therapy

Hereditary Angioedemia (HAE) results when the blood is missing the C1-inhibitor protein. It causes unpredictable and sudden attacks of swelling on various parts of the body. It can affect practically any body part but can be life-threatening when it occurs in the face or larynx due to the risk of suffocation. HAE can also cause diarrhea, vomiting, and colic pain among other symptoms.

The attacks can happen for a wide array of reasons such as physical exertion, infections, hormonal factors, or drugs. They require immediate treatment, and because they’re unexpected, the condition forces patients to live day-to-day life constantly prepared and on guard for an attack.

New Research

Researchers have just discovered exactly what goes on at a cellular level to cause HAE patients to produce such little amounts of C1-inhibitor. Their end goal is to find a way to treat hereditary angioedema with gene therapy, and with this new understanding of the disease, we’re one step closer.

The study shows that the mutated gene a patient receives from one of their parents also effects the healthy gene the patient received from their other parent. You would think that if only one of their parents carried the gene, these individuals would produce half of the amount of CI-inhibitor as a healthy individual. Instead, they produce just 10-20%. Until now, this part of the illness has been a mystery. But this study has helped researchers understand the complex workings of this disease.

The findings from this study have been published in the Journal of Clinical Investigation. 

How did it happen?

How did this new knowledge come about? Like many discoveries, this finding was achieved thanks to collaboration between researchers. Annette Bygum from Odense University Hospital contacted Jacob Giehm to discuss gene therapy as a potential treatment for the HAE. Jacob says-

“We were invited to join the club, and this has led to both an interdisciplinary project and a crucial research result.”

Ultimately, we hope this new discovery will speed up the development of gene therapy as a treatment for hereditary angioedemia.

You can read more about this research here!


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