New Iceland-specific medicine could help globally

07.04.2021 - 15:07
Hákon Hákonarson
 Mynd: Ruv.is
Research by Dr. Hákon Hákonarson has identified an existing medicine that can treat a peculiarly Icelandic genetic disease that has previously been untreatable and potentially fatal. He is now working on a new medication he hopes will be even more effective against the illness; as well as for other diseases, including Alzheimer’s. His findings were published last week in the Nature Communications journal.

Started research after family illness 

Hereditary brain haemorrhage is a specifically-Icelandic genetic condition that can occur in people with a particular genetic mutation. The condition causes the accumulation of a mutated protein in blood vessels that goes on to cause brain haemorrhages—often in people aged 20 to 30. 

Hákon, who is a paediatrician specialising in respiratory and genetic research, was approved to study the disease in 2019 by the university hospital in Philadelphia, USA. His interest in the study began because his cousin, Katrín Björk Guðjónsdóttir, suffered two haemorrhages and a blood clot and was found to be a carrier of the gene. 

“A matter of life and death” 

Hákon has worked for two years with a team of researchers in Iceland to assess the effectiveness of a medicine called NAC on patients with the gene mutation. The results clearly show the medication can slow the progression of the disease for which there has previously been no treatment available. 

“It is of course our hope that this will become a treatment that we manage to finish and get to market. Though it is not a big group of people at home in Iceland, it is nevertheless big enough that this could make a difference for these individuals, and literally be a matter of life and death,” Hákon told RÚV. 

Taking the research further 

The research is ongoing and Hákon and colleagues are now working on a new medicine. 

“This new medicine we are making enters the central nervous system much easier and in much greater quantities. So, we believe it will be an even more effective treatment and it is the treatment we are going to take forward into phase three to finish this development at home in Iceland,” Hákon says. 

Could be useful worldwide 

Hákon explains that there are striking similarities between hereditary haemorrhaging and other diseases caused by genetics that can affect people’s brains. The medicine could therefore help people all over the world and not just a small group of patients in Iceland. 

If research so far continues to present similar results, Hákon expects the new medication could become a tool in the fight against Alzheimer’s disease, as there are significant similarities between the two conditions on a genetic level. 

"If we manage to get the medicine licenced then we will carry on determinedly. The cause of the disease [...] is very similar to Alzheimer’s disease, which just happens slower and later in life than we see with hereditary haemorrhaging,” Hákon explains. 

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