Education |
1981-1985 |
M.D., Universidad Central del Este |
| 1989-1990 |
Internship: Mayaguez Medical Center Pediatrics |
| 1990-1993 |
Residency: Mayaguez Medical Center |
| 1993-1995 |
Fellowship: Genetics Harvard Medical School/Boston Children’s Hospital |
| 1996-2001 |
Ph.D. in Biomedical Sciences, Ponce School of Medicine |
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Current Research,
Teaching and Professional Appointments
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San Jorge Children’s Hospital, Damas Hospital, Mayaguez Medical Center, Auxilio Mutuo Hospital |
| 1998-2001 |
Genetics Clinics through Primary Genetics Program,
Ponce School of Medicine |
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Steering Committee: Caribbean Conference on Clinical Genetics |
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Pharmacia Growth Hormone Research Program Investigator |
| 1995-2006 |
Associate Professor of Biochemistry and Pediatrics |
| 1996-2005 |
Medical Genetics Course Director and Coordinator |
| 1997-2006 |
Chief-Genetic Division |
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Ad Honorem-Associate Professor- UPR School of Medicine |
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Ad Honorem-Associate Professor- Central Del Caribe Medical School |
| 01/2006
-Present |
Ad Honorem- Associate Professor- San Juan Bautista School of Medicine
Dean of Graduate Studies and Research – San Juan Bautista School of Medicine |
| 07/2006
- Present |
Associate Part-Time Professor of Biochemistry – PSM |
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| Memberships of Professional Societies |
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Membership at The Level of Member granted by H. Lee Moffitt Cancer Center & Research Institute (A National Cancer Institute Comprehensive Cancer Center at The University of South Florida) |
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| Awards |
2000 |
Doctors Choice Award |
| 2001 |
Doctors Choice Award |
| 2002 |
Hero Award - United Funds of Puerto Rico |
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| Recent
Publications |
02/2005 |
"The musculoskeletal manifestations of the Coffin-Lowry syndrome: A multicenter study.” José A. Herrera-Soto, M.D.; See S. Segal, M.D.; Normal Ramírez-Lluch, M.D; Alberto Santiago-Cornier, M.D.; Junichi Tamai, M.D. American Journal of Pediatric
Orthopaedics. |
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“Orthopedic Manifestations of Bardet- Biedl Syndrome”. N. Ramírez, L. Marrero, S. Carlo, A.S. Cornier. Journal of Pediatric Orthopedics, Vo. 24.1 |
12/2003 |
“The Controversies Surrounding Jarcho-Levin Syndrome”. A.S. Cornier, N. Ramirez, S. Carlo, A. Reiss. Current Opinion in
Pediatrics |
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. Searby1,2, Gretel Beck,1,2 Kevin Bugge,1,2 Heidi L. Haines,2,3 Alberto S. Cornier,4 Gerald Cox,5 Anne B. Fulton6, Rivka Carmi,7 Alessandro Iannaccone,8 Samuel G. Jacobson,9 Richard G. Weleber, 10Alan F. Wright,11 Ruth Riise, 12RaorlC.M. Hennekanm13, Guven Luleci,14 Siebel Berker-Karauzum,14 Leslie G. Biesecker,15 Edwin M. Stone, 2,3Val C. Sheffield1,2. Am.J. Hum. Genet., 72:429-437 |
08/2002 |
“Identification of the Gene Causing the Most Common Form of Bardet-Biedl Syndrome (BBS1), A Complex Human Obesity Syndrome”. K. Mykytyn1, D. Nishimura1, C. Searby1, M. Shastri1, H. Yen,J. Beck1,T. Braun2, L. Streb3, A.S. Cornier 4, G. Cox5, A. Fulton6, R. Carmi7 , G. Luleic8, S. Chandrasekharappa9, F. Collins9, S. Jacobson10, J. Heckenlively11, R. Weleber12, E. Stone3, and V. Sheffield1. Nature Genetics. Vol 31 |
10/2002 |
“Identification of the gene most commonly involved in Bardet-Biedl syndrome (BBS1) and evaluation of Triallelic inheritance involving BBS1 gene”. Abstract. The American Journal of Human Genetics. Vol. 7(4) |
10/2002 |
“Assesing coping strategies in Families with Jarcho-Levin syndrome”. Abstract. The American Journal of Human Genetics. Vol. 7(4) |
10/2002 |
“Partial Trisomy 13 due to a der(13)t(13;13)(p11.2;q22) translocation”. Abstract. The American Journal of Human Genetics. Vol. 7(4) |
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| Research
Titles |
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Bardet-Biedl Syndrome homozygocity linkage using restriction fragment length polymorphisms (RFLP's) and DNA of affected individuals from consanguineous marriages. In this study, we will try to identify a different locus on chromosome 11 causing this disorder, and provide further evidence of the heterogeneity of this disorder in the population. |
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BBS1 gene polymorphisms, leptins and obesity in syndromic and non-syndromic population. |
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Spondylothoracic Dysplasia Syndrome linkage analysis using restriction fragment length polymorphin and DNA of affected individuals. We are trying to map the gene that causes this autosomal recessive disorder in Puerto Rican population. Gene cloning will be attempted once mapping is achieved. |
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Spondylothoracic Dysplasia Natural History and Phenotype Characterization. We are trying to characterize the phenotype of STD and determine its natural histroy through detail physical analysis and prospective evaluation of patients with this diseases.
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| Contact
Information |
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