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Publications by Dr. Fred de Serres, Ph.D. Relevant to these Issues

1. de Serres, F. J. (2002) Worldwide Racial and Ethnic Distribution of Alpha-1 Antitrypsin Deficiency: Summary of an Analysis of Published Genetic Epidemiological Surveys, CHEST, 122(5), 1818-1829.

2. de Serres, F.J., I. Blanco, E.F. Bustillo (2003) Genetic Epidemiology of Alpha-1 Antitrypsin Deficiency in Southern Europe: France, Italy, Portugal, and Spain, Clin Genet Jun; 63 (6): 490-509.

3. .de Serres, F.J., I. Blanco, E.F. Bustillo (2003) Genetic Epidemiology of Alpha-1 Antitrypsin Deficiency in Australia, Canada, New Zealand, and the United States of America, Clin Genet Nov; 64 (5), 382-397

4. de Serres, F.J., (2003) Alpha-1 antitrypsin deficiency is not a rare disease, but a disease that is rarely diagnosed, Environmental Health Perspectives 111 (16):.1851-1854.

5. de Serres et al 2005 Mondali Archives 63(3), 133-241, (2005) Alpha-1 antitrypsin deficiency in Italy: regional differences of the PIS and PIZ deficiency alleles; view it here.

6. de Serres et al 2006 Eur Resp J 28,1-9. Estimated numbers and prevalence of PI*S and PI*Z deficiency alleles of a1-antitrypsin deficiency in Asia; view it here.

7. de Serres et al 2006 J of COPD 3,133-139. Estimating the Risk for Alpha-1 Antitrypsin Deficiency among COPD Patients: Evidence Supporting Targeted Screening. View it here.

Presently Dr. Serres is finalizing a COPD-AAT Deficiency manuscript that demonstrates AAT Deficiency patients are at risk for COPD or conversely if one were to screen for AAT Deficiency in a non-COPD cohort and a COPD cohort that a much larger number of AAT Deficiency patients would be found in the latter group.

9-18-07 update: To view Dr. de Serres most recent impressive work on Alpha-1 Antitrypsin Deficiency (ATD) in 69 counties worldwide that demonstrates the very large numbers at risk of ATD worldwide in those countries where he has found genetic epidemiological data in the peer-reviewed medical literature, click A and B. The final report is here with this conclusion:

"Our studies demonstrated striking differences in the prevalences of both the PIS and PIZ alleles among these 69 countries and the numbers at risk for AAT Deficiency in a given country in specific geographic regions. Data on the prevalence of the two major deficiency alleles as well as the numbers in those phenotypic classes known to be at risk for AAT Deficiency is considered critical for the identification of individuals at risk for adverse health effects associated with AAT Deficiency as well as the treatment and management of those individuals identified in a given country."