Rare disease research is often lacking due to a lack of funding, interest, or awareness. To combat this, the Barth Syndrome Foundation (BSF) and American Heart Association (AHA) have joined together to fund a postdoctoral fellowship with the goal of researching Barth syndrome. The recipient of the fellowship, Dr. Nanami Senoo, will be investigating the cardiac complications of this mitochondrial disease. 

About Barth Syndrome

Barth syndrome is a metabolic, neuromuscular disorder that is characterized by abnormal skeletal and heart muscles, stunted growth, and trouble fighting infections. It is the result of a mutated TAZ gene, which is passed down through the X chromosome. Because of this, it almost exclusively impacts males. The mutation causes issues with the production of tafazzins, a group of proteins that play a role in the function of mitochondria and the development of bone cells. This results in the characteristic symptoms, which include:

• Learning disabilities
• Cardiomyopathy
• Learning Disabilities
• Hypotonia
• Skeletal myopathy
• Delayed development of motor skills
• High levels of 3-methylglutaconic acid in the blood and urine
• Weakness of the facial muscles
• Neutropenia
  • This makes affected individuals prone to infection

There is no cure for this condition; treatment is symptomatic. Doctors will focus on preventing heart failure, which may require a heart transplant.

About the Fellowship

The fellowship will run for two years with the goal of researching the cardiac complications of Barth syndrome. It goes to Dr. Nanami Senoo, a member of the Mitochondrial Phospholipid Research Center at Johns Hopkins University.

Dr. Senoo’s research will focus on the connection between the nucleotide transporter ANT1 and cardiolipin. The hope is to discover this mechanistic and structural relationship’s implications to affected individuals.   

In terms of funding, this fellowship was made possible by a newly launched funding program. The BSF and AHA initiated this program for “investigator-initiated career development and knowledge discovery projects that directly involve Barth syndrome or cardiolipin research.” Applications for the program are due by September 14th and 15th.

The Barth Syndrome Foundation is very excited to be able to expand its impact and partner with the AHA. This way, they are better able to reach and help rare disease patients. You can read more about this fellowship here.