The AMDA Webinar Program facilitates the exchange of information between the Pompe patient community and professionals that have expertise in the field.

AMDA Webinar On Dr. Dardis’ Work With The Common C.-32-13T>G Splicing Variant Of GAA Gene

Posted on: February 10, 2020 – Filed under

Title:  The common c.-32-13T>G splicing variant of GAA gene: from functional characterization to the identification of new therapeutic targets for Pompe disease.
Speaker:  Andrea Dardis, Ph.D.
To read the Webinar summary, please click here.
Conference Recording will be posted soon.

Speaker Biography:
Dr. Andrea Dardis is Head of the Laboratory of the Regional Coordinator Centre for Rare Diseases, Udine, Italy.  She obtained her PhD in molecular biology at the University of Buenos Aires, Argentina and continued her training at the Metabolic Unit, University of California, San Francisco, USA as a post-doctoral fellow. During her training she was awarded Fellowship of the Lawson Wilkins Pediatric Endocrine Society. She then moved to Italy where she got a Specialist Degree in Medical Genetics at the University of Genoa.

In 2003, she joined the Metabolic Diseases Unit, Pediatric Hospital “Burlo Garofolo”, Trieste, Italy, as a Research Scientist. In 2009 Dr. Dardis moved to the Regional Coordinator centre for Rare Diseases in Udine, Italy, where she became Head of the lab.

Dr. Dardis’s activities are mainly focused on the biochemical and molecular diagnosis of lysosomal storage diseases, the functional characterization of defective lysosomal enzymes and the study of molecular mechanisms involved in the pathogenesis of lysosomal storage disorders.

Due to a family emergency, Dr. Dardis was unable to present at the 2019 AMDA Patient and Scientific Conference and she graciously agreed to give her presentation by webinar.  Please take this opportunity to hear Dr Andrea Dardis present on the identification of new therapeutic targets for Pompe disease.

 Acid Maltase Deficiency Association


Your generous contribution will go a long way into improving the quality of life of Pompe Disease Patients worldwide. Donations go towards Pompe Disease Research.

If you are interested in learning more about Pompe Disease and would like to make a contribution in support of necessary research, please contact us at:


PO Box 700248

San Antonio, Texas 78270 USA