AMDA TELECONFERENCE PROGRAM

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

AMDA WEBINAR PROGRAM

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

AMDA WEBINAR
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.

OTHER WEBINARS

Spark Therapeutics Gene Therapy Research Webinar

Posted on: October 22, 2018 – Filed under

Spark Therapeutics Gene Therapy Research Webinar

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Design And Performance Of Clinical Trials: An Overview

Posted on: October 24, 2014 – Filed under

Design and Performance of Clinical Trials: An Overview

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The Contribution Of The IPA Survey To Our Understanding Of The Natural Course Of Pompe Disease

Posted on: August 22, 2014 – Filed under

The contribution of the IPA survey to our understanding of the natural course of Pompe disease and the effects of enzyme therapy: Ten years of the IPA survey
Needle Core Muscle Biopsy

Posted on: April 03, 2012 – Filed under

Needle Core Muscle Biopsy

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NMR Imaging And Spectroscopic Techniques For Diagnosis, Follow Up And Evaluation Of Pompe Disease

Posted on: March 15, 2012 – Filed under

NMR imaging (MRI) and spectroscopic (NMRS) techniques for diagnosis, follow up and evaluation of Pompe disease

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Respiratory Muscle Strength Training In Pompe Disease

Posted on: June 21, 2011 – Filed under

Biomarin Presentation

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BMN-701:Potentially More Effective Treatment Option For Pompe

Posted on: December 24, 2010 – Filed under

Biomarin Presentation

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Diaphragm Delivery Of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase

Posted on: November 01, 2010 – Filed under

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Autophagy And It’s Role In Pompe Disease

Posted on: August 14, 2010 – Filed under

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 Acid Maltase Deficiency Association

GET INVOLVED

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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:

(210) 494-6144

info@amda-pompe.org

AMDA

PO Box 700248

San Antonio, Texas 78270 USA