The project
Tuesday April 17th, 2018

There are people with a higher risk of developing respiratory diseases, among which the most important and common is the emphysema. These can result of respiratory infections and inhalation of irritating substances, especially cigarette smoking. The underlying genetic defect of the increased susceptibility is the alpha1-antitrypsin deficiency, one of the most common hereditary diseases although under-diagnosed because not well known.

Is there a protective gene that defends the lungs? Is it possible to know if you have an increased risk of developing respiratory diseases, or if our own children have it before symptom appearance? This knowledge could induce virtuous behaviors such as cessation of cigarette smoke or the switch to electronic cigarettes which may be a less dangerous alternative.

The answer is YES, and it’s easy! Since some years we have developed a method for diagnosing Alfa1-antitrypsin deficiency, which is based on a kit consisting of a special filter paper, on which six drops of blood are placed. Everything can be sent as a postcard to the “Center for Diagnose and Coordination of the Inherited Alpha-1-Antitrypsin Deficiency Registry”, at the San Matteo Hospital that is the reference center for Italy. The blood drops are sufficient to perform all the biochemical and genetic tests needed for a complete and accurate diagnosis of Alfa1-antitrypsin deficiency.

Our research team is not just concerned about diagnosing but also about identifying new genetic variants which are associated with respiratory (but also hepatic) diseases. These rare variants help us in understanding which regions of the gene regulate the conformational state of Alpha-1-antitrypsin protein. In the framework of the initiative launched by the European Commission and called “European Reference Networks” (ERN) for complex or rare diseases that require highly specialized treatment and concentrated knowledge and resources, we have been identified as the reference laboratory for Western Europe.

We currently carry out more than a thousand of testing per year, thanks to state-of-the-art tools and dedication of our staff that is precarious. However, we have the ambition and certainty that we can do more. First, it is necessary to increase the awareness about the existence of this inherited risk factor and intensify the efforts against cigarette smoking. In addition, a continuous technological upgrade is necessary and it is crucial to offer future certainty and prospects to those who work on this project.

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LINK

http://www.alfa1antitripsina.it
http://www.alfa1at.it

Goals

Initial goal

10.000€ for a new automatic extractor for DNA/RNA

Final goal

20.000€ for support an accademic position as researcher

Further funding will support the purchase of a Next Generation Sequencer (NGS)

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Rewards

The donor will have his name/logo on website www.alfa1antitripsina.it and on social networks

Donation 20 euros

Alpha pin

Donation 250 euros

“Breath for life” t-shirt and Alpha pin

Donation 1000 euros

Alpha pin, “Breath for life” t-shirt and acknowledgement in a paper published in an International Journal.

Team

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Angelo G. Corsico

Prof. | Founder

Angelo G. Corsico

Prof. | Founder
Associate Professor in Respiratory Diseases of the Department of Internal Medicine and Therapeutic, University of Pavia Complete CV
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Ilaria Ferrarotti

Dott.

Ilaria Ferrarotti

Dott.
Temporary Research Associate, University of Pavia Complete CV
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Stefania Ottaviani

Dott.

Stefania Ottaviani

Dott.
Fellowship at Lab of Genetics and Biochemistry of Respiratory Diseases, IRCCS Policlinico S. Matteo Foundation, Pavia Complete CV
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Michele Zorzetto

Dott.

Michele Zorzetto

Dott.

Coordinator of Laboratory of Biochemistry and Genetic, Policlinico San Matteo, Pavia

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Backers

  1. Nutini Alessandra
  2. Prandini Maria Angela
  3. Monica Borghino
  4. IMAGE S.P.A.
  5. Gianfranco Pavesi
  6. Rosangela Priarone
  7. Cavelli Gianfranco
  8. Fibioli Franca
  9. IMAGE S.P.A.
  10. Antyche Case snc
  11. Gianfranco Pavesi
  12. Giuseppe Mazzoli
  13. DI CEGLIE TOMMASO CEGLIE TOMMASO
  14. IMAGE S.P.A. S.P.A.
  15. ANONIMO
  16. ANONIMO
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  23. ANONIMO
  24. Pavesi Gianfranco Pozzi Daniela
  25. Francesca Bartolini
  26. STEFANIA DEL PLATO Donazione in memoria di Gerardo Del Plato
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  75. Deficit Alpha 1 antiripsina
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