BIOGRAPHICAL SKETCH

NAME

Alberto Santiago-Cornier

POSITION TITLE

Associate Professor

EDUCATION/TRAINING

INSTITUTION AND LOCATION

DEGREE

YEAR(s)

FIELD OF STUDY

Ponce School of Medicine, Ponce, PR
Harvard Med. School / Boston Child. Hosp
Mayaguez Med. Center , Pediatrics Dept
Mayaguez Medical Center
Univ. Central del Este San Pedro de Macoris

PhD
Fellowship
Ped. Res.
Internship
MD

2001
1995
1993
1990
1985

Biomedical Sciences
Genettics
Pediatrics
Rotary Internship
School of Medicine

POSITIONS

2000 -Present Chief, Genetic Division, Ponce School of Medicine

1997 - Present Director, Molecular Biology Program, Ponce School of Medicine, Ponce, PR.

1995 - Present Associate Professor of Biochemistry and Pediatrics, Human Genetics Course Director, Ponce School of Medicine

1995 - Present Assistant Professor of Pediatrics, University of Puerto Rico School of Medicine

HONORS

Invited by the senior editor of the Genetic section to write a review article on Jarcho-Levin Syndrome in Current Opinion in Pediatrics, December 2003.

Guest speaker Oklahoma Medical Research Foundation Seminars: “ Phenotype Characterization and Natural History of Spondylothoracic Dysplasia”, October, 2003.

Guest Lecturer at Philadelphia Children’s Hospital Genetic Seminar: “Phenotype Characterization of Spondylothoracic Dysplasia”, November 2002.

Guest Lecturer New York Medical College, Westchester, N.Y. January 2003

Guest Lecturer, Shrinner’s Hospital, Philadelphia, November 2002.

Guest Speaker at the Puerto Rico’s Medical Association Meeting, Pediatric Section, Feb. 2002.

Guest Speaker at the Caribbean Conference on Clinical Genetics, 2002, 2001, 2000, 1999.

Platform Presentation at the American Society of Human Genetics Meeting, San Francisco, CA, October 2001.

Reviewer for the Department of Health & Human Services, Maternal and Child Health Bureau, Genetic Services Branch (June 1998).

Speaker at the GENES Meeting, Mount Sinai Hospital, New York, NY (June 1998).

Speaker (platform presentation) at the American College of Medical Genetics Conference, Ft. Lauderdale, Florida, March 1997.

Guest Speaker at the Latin American Genetics Experts Meeting, Rio de Janeiro, Brazil (08/ 1997).

Invited by Paraguay’s Government to help establish the Clinical Genetic Service at the University of Paraguay School of Medicine, Asunción, Paraguay (July 1997).

Boston Children’s Hospital Research Fellows Association: founder member.

Fellows Association Representative to the Faculty Executive Committee.

 AWARDS

Americo Serra Research Competition: 1 st Prize Award (05/97)

Research Pilot Project: Bardet-Biedl Homozygosity Linkage Analysis ($20,000) granted by the Extramural Associate Research Development Award, NIH (EARDA).

Americo Serra Research Competition: 1 st Prize Award (06/98)

Glaxo Research Competition: 1 st Prize Award, Basic Sciences – 1998

Glaxo Research Competition: 2 nd Prize Award , Clinical Sciences- 1999

Doctors Choice Award- 2000

Doctors Choice Award- 2001

Publications

The Controversies Surrounding Jarcho-Levin Syndrome”. A.S. Cornier, N. Ramirez , S. Carlo, A. Reiss. Current Opinion in Pediatrics , Dec , 2003.

Evaluation of Complex Inheritance Involving the Most Common Bardet-Biedl Syndrome Locus (BBS1). Kirk Mykytyn, 1,2 Darryl Y. Nishimura, 1,2 Charles C. Searby 1,2, Gretel Beck, 1,2 Kevin Bugge, 1,2 Heidi L. Haines, 2,3 Alberto S. Cornier , 4 Gerald Cox, 5Anne B. Fulton 6, Rivka Carmi, 7 Alessandro Iannaccone, 8 Samuel G. Jacobson, 9 Richard G. Weleber, 10Alan F. Wright, 11 Ruth Riise, 12RaorlC.M. Hennekanm 13, Guven Luleci, 14 Siebel Berker-Karauzum, 14 Leslie G. Biesecker, 15 Edwin M. Stone, 2,3Val C. Sheffield 1,2..Am.J. Hum. Genet., 72:429-437, 2003.

Identification of the gene causing the most common form of Bardet-Biedl syndrome (BBS1), a complex human obesity syndrome. K. Mykytyn 1, D. Nishimura 1, C. Searby 1, M. Shastri 1, H. Yen,J. Beck 1,T. Braun2, L. Streb 3, A.S. Cornier 4, G. Cox 5, A. Fulton 6, R. Carmi 7 , G. Luleic 8, S. Chandrasekharappa 9, F. Collins 9, S. Jacobson 10, J. Heckenlively 11, R. Weleber 12, E. Stone 3, and V. Sheffield 1. Nature Genetics. Vol 31, August 2002.

Serum Leptin Concentration and Lipid Profiles in Puertorrican Bardet-Biedl Syndrome. A. Santiago-Cornier *1,6, S Carlo 2, J Acevedo 3, D Valencia 4, L Caban 5, T Frazer 5. Department of 1Biochemistry, 5Pharmacology, and 6Pediatrics, Ponce School of Medicine, Ponce, PR 00732; 2Department of Pediatrics, Mayaguez Medical Center, Mayaguez, PR 00680, 3Department of Nursing University of Puerto Rico at Arecibo, Arecibo, PR; 4Department of Pediatrics, University of Puerto Rico School of Medicine, San Juan, PR. American College of Endocrinology Meeting, New Orleans, Louisiana, August 1998.

CFTR Gentotyping of a Cohort of Puerto Rican CF Patients: An Unexpectedly Low Mutation Detection Frequency. R.B> Parad, A. Cornier, J.R. Rodriguez-Santana, L. Pedraz, J. Osterman. Ina Sue Perlmutter Cystic Fibrosis Research Laboratory, Children’s Hospital, Department of Pediatrics, Harvard Medical School, Boston, MA., Dept. of Pediatrics, University of Puerto Rico School of Medicine, San Juan, and Ponce School of Medicine, Ponce, PR. (11 th Annual North American CF Conference, Nashville, TN, October 23-26, 1997).

Medical Genetic Sevices in Puerto Rico: Research Status. A. Santiago-Cornier, M.D. Brazilian Journal of Genetics, Vol. 20 - No. 1 - Supplement, pp. 101-111, March 1997.

Bardet-Bield Syndrome in Puerto Rican Patients: Phenotype Characterization. A.S. Cornier, A.B. Fulton, J.R. Acevedo, V.C. Sheffield, M. Berg, G.F. Cox. 1 Department of Biochemistry, Ponce School of Medicine, Ponce, PR; 2 Dept. of Ophthalmology, 5 Division of Genetics, and 6 Howard Hughes Medical Institute, Children’s Hospital and Harvard Medical School, Boston, MA; 3 Dept. of Nursing, University of Puerto Rico at Arecibo, PR; 4 Dept. Of Pediatrics, University of Iowa, Iowa City, IA. (Presented as a platform presentation at the American College of Medical Genetics Conference, March 1997).

Bardet-Bield Syndrome in Puerto Rican Patients: Phenotype Characterization", A.S. Cornier, A.B. Fulton, J.R. Acevedo, V.C. Sheffield, M. Berg, G.F. Cox. American College of Medical Genetics Meeting, Ft. Lauderdale, FL, February 28 - March 2, 1997.

Homozygosity mapping of a Bardet-Biedl syndrome gene in inbreed families of Puerto Rican ancestry confirms the existence of a chromosome 11 locus. A.S. Cornier 6, A.B. Fulton 3, T. Rokhlina 2, D. Nishimura 2, E.M. Stone 5, V.C. Sheffield 2, D.A. Whiteman 1, and G.F. Cox 1,4. 1 Division of Genetics, 3 Department of Ophthalmology, and 4 Howard Hughes Medical Institute, Children’s Hospital and Harvard Medical School, Boston, MA; Departments of 2 Pediatrics and 5 Ophthalmology, University of Iowa, Iowa City, IA; 6 Department of Biochemistry, Ponce School of Medicine, Ponce, PR. American Society of Human Genetics Meeting Syllabus (American Journal of Human Genetics, 10/1995 - Abstract).

Current Approaches to Genetic Metabolic Screening in Newborns. Cornier, A.S., and Levy, H.L. Current Opinions in Pediatrics, Vol. 6, December 1994.

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