VarSome Insights

Aceragen Maps Rare Disease Prevalence with VarSome Insights

By Xanthippi Papakonstanti on March, 2 2023

Stay up to date

Aceragen, a biopharmaceutical company specializing in the development of treatments for rare genetic conditions, recently shared their novel approach to mapping Farber disease prevalence at ASHG 2022. Using VarSome Insights, the team were able to use ASAH1 gene search frequencies from to accurately estimate and map global cases of the disease. 

Nils Confer, Vice President of Medical and Patient Strategies at Aceragen, led the project. We caught up with him to learn a bit more about the approach.

Can you explain what Farber disease is and what effects it can have?

NC: Farber disease is a rare genetic, or inherited, lysosomal disorder that is caused by mutations in the ASAH1 gene leading to proinflammatory ceramide accumulation secondary to acid ceramidase deficiency. Farber disease is progressive and potentially life-threatening.

Can you tell us how you worked with VarSome Insights on this study and what do your results mean for Farber’s disease prevalence?

NC: It is unknown how many people have Farber disease because limited numbers of variants are characterized currently, and the symptoms overlap with other diseases, such as juvenile idiopathic arthritis (JIA or early onset rheumatoid arthritis). VarSome Insights provided us with a means to infer prevalence by comparing variant search volumes for more established and analogous monogenic diseases. Surprisingly, the findings from this effort align closely with results from a recently completed traditional prevalence effort providing credibility to determination of the likely high end of prevalence when establishing a range.

Seeing the findings of this study, what impact can VarSome Insights have in rare disease prevalence?

NC: As more rare diseases mature to have potential therapies in development, prevalence becomes an important consideration to aid in patient identification. Traditional prevalence efforts is usually a costly and timely endeavor. Inferred prevalence may circumvent this spend during early development efforts.

What motivated you to work on rare diseases?

NC: Every life is valuable and every rare disease, or genetic condition, and the patients and families affected by them, deserve hope today with a treatment as soon as possible. Contributing to this hope is one of the best ways to give our lives purpose.


If you'd like to learn more about how you can use VarSome Insights to support your clinical trials, reach out to us at

Aceragen_bio-photo_nilNils Confer, Vice President of Medical and Patient Strategies, Aceragen

Nils is the Vice President of Medical and Patient Strategies, joining Aceragen from BridgeBio where he developed Medical Affairs for rare disease programs. His prior experience includes building Medical Affairs capabilities and teams, with significant experience in the area of improving patient diagnosis capabilities. He holds and PhD in Biomedical Research from the University of North Texas, and an executive MBA from the University of Texas.

About VarSome Insights

VarSome Insights leverages the metadata much in the same way that a public search engine would. Users are given the option to consent to share information about their variant searches with relevant parties that might have an associated clinical programme or approved therapy. As the majority of VarSome users are healthcare professionals, most variant searches are made to support a clinical diagnosis for a patient. Get in touch to find out how VarSome Insights is already supporting Clinical Trial recruitment and more.

Submit a Comment

Stay up to date