ANA ISABEL ALVAREZ RETUERTO, Ph.D.
K30 Awards Training Program in Translational & Clinical Investigation. University of California in Los Angeles (UCLA), sponsored by the National Institutes of Health (NIH). (2005-07)
Ph.D. in Cellular Biology with Biomedical Implications. School of Medicine, Basque Country University, Leioa, Spain. Degree conferred in March 1997.
Graduate Courses on Virology & Human Genetics. Florida International University, Miami, Florida, 1992-93.
Licenciatura in Biology. School of Sciences, Basque Country University, Leioa, Spain, 1980-87.
II. PROFESSIONAL EXPERIENCE
Jan 2012- Present: Clinical Research Associate
Present clinical protocols and studies to sponsor designated investigators, MDs, KOLs and other medical providers in the healthcare system.
Establish and maintain relationships with Investigators, Physicians, KOLs and medical community personal serving as primary contact for any clinical trial issue.
Deepen in therapeutic expertise, drug development and clinical protocols.
Specific Studies: Multiple Sclerosis/Autoimmune disease & Alzheimer.
Multiple Sclerosis/Autoimmune: focused in immunotherapy and T cell vaccination projects/trials.
Alzheimer: Janssen studies.
Monitor clinical studies at all levels to ensure 100% compliance with Clinical Protocol, Clinical Project Management, IRB,s ICH/GCP and regulatory agencies.
Oct. 2009- Nov. 2011: Scientific Liaison, Clinical Study Manager, Coordinator & Neuropsychology Rater. Mary S. Easton Alzheimer Center. Neurology, UCLA.
Coordinated and managed clinical research study in familial Alzheimer disease with clinical assessments including physical and neurological exams, psychiatric evaluations, MRI imaging, PET scans, genetics, neuropsychological/psychiatric testing, as part of an international multi-site (10 centers including UK, Australia) study.
Clinical & research liaison among participants, patients, families, investigators, medical professionals and collaborators.
Medical liaison with collaborators, other medical professional, participants, patients & recruitment.
Administered, rated, scored & co-evaluated neuropsychological/ neuropsychiatry test batteries in 30 participants worth $150,000. (NACC Uniform Data Set (UDS)(including MMSE).
Performed neuropsychiatry evaluations (NACC (UDS) Behavioral assessments, functional assessments & personality tests.
Supervised other memory & psychiatric evaluations performed by a psychiatrist.
Ensured and supported study compliance with local & network regulations.
Managed & supervised clinical research project with 8 to 10 professionals (1 MD, 3/4 technicians, 2/3 staff & 4 to 6 RNs).
Implemented study protocol with several clinical assessments (physical & neurological exams, PET scans, MRI scans, family review, genetic testing, psychiatric evaluation & neuropsychological/psychiatric testing, biomaterials [cerebro spinal fluid (CSF), blood & urine]). Assessments completed worth more than $375,000.
Lead & performed language translations of protocols and neuropsychological tests saving at least $13000.
Completed Case Report Forms (CRFs); worked with Electronic Data Capture systems (EDC) following study protocol, manual procedures and appropriate regulations.
Worked with clinical monitors (CRAs) in data reviewing, close outs and case approvals.
Coordinated collection & handling of biomaterials (blood, urine, CSF).
Remote follow-up evaluations with subjects & study partners.
Supported principal investigator in regulatory affairs with Internal Review Board (IRB), informed consent forms (ICFs), etc.
Reported Adverse Events (AEs), protocol violations and deviations without study interruption.
Ordered & tracked biomaterials supplies.
Collected, managed & uploaded clinical data for 60 participants both electronically & hard copy.
Jun. 2004- Sept. 2009: Scientist, Analyst, Research Coordinator & Research Liaison. Semel Neuropsychiatry Institute (NPI), UCLA.
Researched genetics of complex diseases in search for genomic loci susceptible of conferring risk to autism spectrum disorders.
Elaborated 7 scientific papers in high-impact peer-review journals (i.e. Science, Nature Genetics, etc).
Used bioinformatics databases (ISAAC, Ensembl, UCSC, PubMed, Genome Browser, SNP databases, CNV databases, etc) & web-based tools and systems.
Used following genetic analysis software programs: Genotyper, Genehunter, Mapmaker-Sibs, Haploview, Whap, Plink, Nexus, PennCNV.
Ran statistical genetic analyses in more than 1900 human samples.
Performed experiments (genotyping) in human genetic material using molecular genetic approaches.
Supervised, ordered, handled, tracked & stored biomaterials (more than 5000 DNAs).
Presented study outcome in international conferences (IMFAR, Neuroscience, Human Brain Mapping), and published in high impact peer review journals (Science, PLoS Genet., Nature Genetics, Hum. Molec. Genet., etc).
Responsible for design, performance, development & conclusion of project.
Implemented study by prioritizing aims and meeting time deadlines.
Research liaison among investigators, collaborators, staff & students.
Managed research & clinical data.
Analyzed, interpreted & reported research data.
Coordinated, supervised and managed a multi-site network (4 universities, 6 departments & 17 professionals (PhDs, MDs, staff & graduate students)) in autism study.
Identified, addressed & solved queries.
Work acknowledged/reported in several scientific and general public media sources.
Organized meetings and conference calls. Supervised and prepared progress reports, meeting minutes and other documentation.
Study/team part of the STAART Network centers from the National Institute of Mental Health (NIMH) at NIH, now called Autism Center for Excellence (ACE).
Jul. 2002-May 2004: Clinical Trial Scientist.
Reed Neurological Research Center (RNRC), Neurology, UCLA.
Designed, set-up, developed & concluded research projects to evaluate the role of Estrogens and Androgens in human Immunology/Cell Biology related to Multiple Sclerosis (MS).
Performed in vitro and ex-vivo experiments in human peripheral blood cells (PBMSc) and whole blood of female patients from a phase I MS clinical trial, evaluating immune mediated responses before, during and after treatment with oral estrogens.
Conducted in vitro and ex vivo experiments on PBMCs and whole blood of healthy males to evaluate immune mediated responses to androgens.
Project leader. Started up, developed and performed 3 research projects.
Published 2 scientific papers in high-impact peer-review journals (J. Neuroimmunol. & J. Immunol.).
Managed, analyzed, interpreted & reported research data,.
Addressed and solved problems.
Presented study outcomes at international meetings (Am. Acad. Neurology & Am. Assoc. Immunol.).
Work reported in the National Multiple Sclerosis Society website, the Science.gov website and in other websites and general media sources.
Work was supported by the National Institutes of Health (NIH) grants AI50839, NS45443 (RRV); and the National Multiple Sclerosis Society grants RG3016 and RD3407 (RRV).
Nov. 2000- Jun. 2002: Postgraduate Researcher VII.
Center Health Sciences (CHS), Radiation Oncology, UCLA.
Used Molecular Biology, Gene Therapy (adenovirus) and human cancer cell lines to develop novel approaches in drug discovery that could minimize and/or avoid chemotherapy’s side effects.
Responsible of project set-up, implementation, performance, development, analysis, interpretation and conclusion.
Work focused on the use of alternative splicing, human tumor cell lines and transfections with various CD44 constructs and adenoviruses (gene therapy) to target specific cell populations.
Engineered viral vectors with alternative spliced CD44 to target and sensitize specific tumor populations.
Data reported at international meetings and used for the completion of bigger work published in scientific journals.
Identified queries and resolved issues.
Managed, interpreted and analyzed data.
Collaborated with other teams.
Work was supported Work was supported by the National Institutes of Health (NIH) Grant 1-RO1-CA-82296.
Apr. 1997- Sept. 2000: Postdoctoral Fellow.
Jules Stein Eye Institute (JSEI), UCLA.
Designed, developed and conducted projects studying the transduction visual cascade to further characterize retinal degeneration.
Performed experiments in molecular biology using competitive quantitative polymerase chain reaction (PCR) to quantify Phosphodiestarase (PDE) gene in lead-exposed animal retinas.
Set-up, performed and interpreted gene therapy project for retinal degeneration therapy. Engineered a modified Adenovirus (Ad) with Hexon gene removed and made a packaging cell line with 293 cells.
Engineered adenoviral modified construct with its packaging cell line to increase efficiency in gutted Ad gene transfer systems used for retinal blindness therapies.
Data presented on progress reports, national & local meetings and in laboratory presentations.
Learned to translate theory into practical issues of interest.
Trained in innovative techniques applied to the field of study.
Knowledge acquired in how to draw points of interest, address questions and design projects.
Jan. 1994- Mar. 1997: Medical Researcher, Medical Liaison & Project Coordinator.
Genetics Unit. Basurto Hospital, Bilbao, Spain.
Supervised and oversaw three clinical departments (ophthalmology, electrophysiology & genetics) (4 physicians & their teams).
Responsible for clinical assessments and patient data collection & management.
Research liaison, which lead to massive satisfactory patient participation with acknowledgment and award by national association of patients.
Research liaison among other medical professionals (MDs).
Lead and conducted project in molecular genetics with start up, development, interpretation, analyses and conclusion. Screening of the Rhodopsin (Rho) gene in Retinitis Pigmentosa (RP) patients using PCR & DGGE systems.
Collected and analyzed data; prepared progress reports.
Involved in group-meetings to discuss work evolution and further approaches.
Worked in collaboration with associations and foundations of affected individuals.
Authored papers published in national scientific journals & presented in national conferences, in addition to general public media.
These studies were funded by the Fondo de Investigaciones Cientificas(FIS) (maximum health research organism belonging to the Ministry of Health in Spain), the National Foundation of Retinitis Pigmentosa and the Research Commission of the Basurto Hospital.
Work received awards by the Academy of Medical Sciences in Bilbao and the Basque Foundation of Research on Retinitis Pigmentosa.
1992-1993: Laboratory Volunteer. Florida International University, Miami, FL.
Trained in the use techniques, workflow and interdisciplinary environment typical in an international research lab.
1988-1989: Clinical Technician, Volunteer. Medical Laboratories R.I.A. S.A.
Clinica Indautxu, Spain.
Introduced and performed clinical laboratory procedures.
Developed skills in prevalent techniques for several diagnoses.
Liaison with companies; products and equipment.
Set-up new techniques of interest to the lab.
Diverse private tutoring (individual & group), of several topics to different alumni in terms of age, gender, professional status & levels, throughout the years. In addition:
06/2011: Language Teacher. Beverly Hills Lingual Institute. (Beverly Hills, CA).
Tutor to Dr. Alfonso Delgado, Chairman of the Pediatric Department at the Basque Country University School of Medicine, in his scientific English.
1990-1991: Language Teacher. Union Pacific-Assimil Vocational Center, Bilbao (Spain).
Taught English to students, adults and professionals.
Taught Spanish to non-Spanish speakers.
Elaborated classes studies plan and participated in faculty weekly progress meetings.
1986-1990: English Teacher. (A.S.E.) Language Center, Bilbao (Spain).
Taught different levels of English to kids, students and adults.
1. Scott-Van Zeeland AA, Abrahams BS, Alvarez-Retuerto AI, Sonnenblick LI, Rudie JD, Ghahremani D, Mumford JA, Poldrack RA, Dapretto M, Geschwind DH, Bookheimer SY. Altered functional connectivity in frontal lobe circuits is associated with variation in the autism risk gene CNTNAP2. Sci Transl Med. 2010 Nov 3;2(56):56ra80.
2. Bucan M, Abrahams BS, Wang K, Glessner JT, Herman EI, Sonnenblick LI, Alvarez Retuerto AI, Imielinski M, Hadley D, Bradfield JP, Kim C, Gidaya NB, Lindquist I, Hutman T, Sigman M, Kustanovich V, Lajonchere CM, Singleton A, Kim J, Wassink TH, McMahon WM, Owley T, Sweeney JA, Coon H, Nurnberger JI, Li M, Cantor RM, Minshew NJ, Sutcliffe JS, Cook EH, Dawson G, Buxbaum JD, Grant SF, Schellenberg GD, Geschwind DH, Hakonarson H. Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet. 2009 Jun;5(6):e1000536. Epub 2009 Jun 26.
3. Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, Salyakina D, Imielinski M, Bradfield JP, Sleiman PM, Kim CE, Hou C, Frackelton E, Chiavacci R, Takahashi N, Sakurai T, Rappaport E, Lajonchere CM, Munson J, Estes A, Korvatska O, Piven J, Sonnenblick LI, Alvarez Retuerto AI, Herman EI, Dong H, Hutman T, Sigman M, Ozonoff S, Klin A, Owley T, Sweeney JA, Brune CW, Cantor RM, Bernier R, Gilbert JR, Cuccaro ML, McMahon WM, Miller J, State MW, Wassink TH, Coon H, Levy SE, Schultz RT, Nurnberger JI, Haines JL, Sutcliffe JS, Cook EH, Minshew NJ, Buxbaum JD, Dawson G, Grant SF, Geschwind DH, Pericak-Vance MA, Schellenberg GD, Hakonarson H. Common genetic variation in the intergenic region between CDH10 and CDH9 is associated with susceptibility to autism spectrum disorders. Nature. 2009 May 28;459(7246):528-33. Epub 2009 Apr 28.
4. Alvarez Retuerto AI, Cantor RM, Gleeson JG, Ustaszewska A, Schackwitz WS, Pennacchio LA, Geschwind DH. Association of common variants in the Joubert syndrome gene (AHI1) with autism. Human Mol Genet. 2008 Dec 15;17(24):3887-96. Epub 2008 Sep 9.
5. Yuhei Nishimura, Christa L. Martin, Araceli Vazquez-Lopez, Sarah J. Spence, Ana Isabel Alvarez-Retuerto, N. Carolyn Schaneen, Stephen T. Warren, Sandra Pellegrini, Daniel H. Geschwind. Genome-wide expression profiling of lymphoblastoid cell lines can distinguish autism due to distinct etiologies and reveals commonly dysregulated pathways. Human Mol Genet. 2007 Jul 15; 16 (14): 1682-98. Epub 2007 May 21.
6. Christa Lese Martin, Jacqueline A. Duvall, Yesim Ilkin, Jason Simon, Maria Arreaza, Kristen Wilkes, Ana Isabel Alvarez-Retuerto, Amy Whichello,, Cynthia Powell, Kathleen Rao, Edwin Cook, Daniel H. Geschwind. Cytogenetic and molecular characterization of the A2BP1/FOX1 as a candidate gene for autism. Am J Med Genet B Neuropsychiatr Genet. 2007 Oct 5; 144(7): 869-76. PMID: 17503474.
7. Rita M. Cantor, Naoko Kono, Jackie A. Duvall, Ana Alvarez-Retuerto, Jennifer L. Stone, Maricela Alarcon, Stanley F. Nelson, Daniel H. Geschwind. Replication of autism language: fine mapping peak at 17q21. Am J Hum Genet. 2005 Jun 1; 76 (6): 1050-6.
8. Soldan SS, Alvarez Retuerto AI, Sicotte NL, and. Voskuhl RR Dysregulation of IL-10 and IL-12p40 in secondary progressive multiple sclerosis. J. Neuroimmunol. 2004, Jan 146(1-2): 209-15.
9. Soldan SS, Alvarez Retuerto AI, Sicotte NL, and Voskuhl RR. Immune modulation in multiple sclerosis patients treated with the pregnancy hormone Estriol. J. Immunol. 2003, Dec 1; 171(11): 6267-74.
10. Hayes G., Alvarez-Retuerto Ana I., Dougherty GJ. A novel targeted GDEPT approach that exploits differences in the alternative splicing ability of normal and malignant cells. Proceedings of the American Association of Cancer Research. (1st ed). July 11-14, 2003, 44:56.
11. M Duran Dominguez, M Molina Carrillo, J Fernandez Toral, T Martinez Merino, MA Lopez Aristegui, AI Alvarez Retuerto, M L Onaindia Urquijo, M I Tejada Minguez. Molecular diagnosis of X-fragil syndrome by PCR; application to a diagnostic protocol in 50 families from the north of Spain. Anales Españoles de Pediatria. 2001, Apr. 54 (4): 331-339.
12. Alvarez AI, Arostegui E, Martin R, Durán M, Tejada MI, Molina M. Role of the Pro23Leu mutation in a family affected by Retinitis Pigmentosa in the Basque Country. Journal of Clinical Genetics 1999, Nov. 56 (5): 407-8.
13. Duran M, Lopez-Valverde M, Alvarez AI, Molina M, Onaindia ML, Tejada MI. X-fragil syndrome: is screening viable in pregnant women?. Prog. Diag. Prenat. 1999, 11(3): 96-100.
14. Alvarez AI, Arostegui E, Martin R, Durán M, Onaindia ML, Molina M, Tejada MI. Molecular Study of the Rhodopsin Gene in Retinitis Pigmentosa patients in the Basque Country. Journal of Medical Genetics 1998, 35(5): 387-390.
15. Tejada MI, Alvarez AI, Reig C, Carballo M, Arostegui E, Martin R, Onaindia ML, Molina M. Clinical, cytogenetics and molecular studies in Retinitis Pigmentosa patients living in the Basque Country. Gaceta Médica de Bilbao (Official Journal of the Academy of Medical Sciences in Bilbao, Spain), 1997.
16. Tejada MI, Alvarez AI, Onaindia ML, Molina M. La Retinosis Pigmentaria en el País Vasco: Estudios Genéticos protocolizados de pacientes con RP residentes en Euskad., Visión 1997, 12: 10-11.
17. A I. Alvarez, M. Duran, M. Molina, E. Arostegui, R. Martin, M.L. Onaindia, M.I. Tejada. Molecular Screening of the Rhodopsin gene in 65 Retinitis Pigmentosa patients from the Basque Country. The American Journal of Human Genetics. 1996. 59(4): 391.
18. Reig C, Alvarez AI, Tejada MI, Molina M, Arostegui E, Martin R, Antich J, Carballo MA. New mutation in the 3 -acceptor splice site of intron 4 in the Rhodopsin gene associated with autosomal dominant Retinitis Pigmentosa in a Basque family. Human Mutations 1996 8: 93-94.
19. Tejada M.I., Durán M., Martinez Tx., Loidi B., Fdz-Toral J., Coto E., Bernal A., Onaindia M.L., Alvarez A.I., Molina M. Molecular study of 40 Fragile X families from the North of Spain. European J. Human Genetics. 1996; 4, 1:115.
INTERNATIONAL SCIENTIFIC MEETINGS
1. A. A. Scott, B. S. Abrahams, A. I. Alvarez-Retuerto, L. Sonnenblick, D. Ghahremani, J. Mumford, R. Poldrack, M. Dapretto, D. H. Geschwind, S. Y. Bookheimer Long-range fronto-parietal connectivity is related to language abilities in children with and without autism spectrum disorders. International Meeting for Autism Research (IMFAR). May 20-22, 2010, Philadelphia, PA.
2. A. A. Scott, B. S. Abrahams, A. I. Alvarez-retuerto, L. Sonnenblick, D. Ghahremani, J. Mumford, R. Poldrack, M. Dapretto, D. H. Geschwind, S. Y. Bookheimer Genetic variation in CNTNAP2 modulates human frontal cortical connectivity. NeuroScience October 17-21, 2009, Chicago IL.
3. AA Scott; BS Abrahams; AI Alvarez-Retuerto; L. Sonnenblick; M. Dapretto; DH Geschwind; SH Bookheimer. Neural correlates of Reward Processing are modulated by CNTNAP2 genotype in children with and without autism. Human Brain Mapping Meeting June 18-23, 2009, San Francisco, CA.
4. Cantor RM, Duvall J, Kono N, Stone JL, Alvarez-Retuerto A, Nelson, SF, Geschwind DH. Localization of an autism gene on chromosome 17q21. 4th International Meeting for Autism Research (IMFAR). Boston Massachussets, May 5-7, 2005.
5. Samantha Soldan, Nancy L. Sicotte, Ana I. Alvarez-Retuerto, Rochelle Klutch, Rhonda Voskuhl, Th1 to Th2 Immune shift in female multiple sclerosis patients treated with the pregnancy hormone Estriol. American Academy of Neurology; 55th Annual Meeting, Honolulu, Hawaii, March 29- April 5, 2003.
6. Samantha Soldan, Nancy L. Sicotte, Ana I. Alvarez-Retuerto, Rochelle Klutch, Rhonda Voskuhl, Th1 to Th2 Immune shift in female multiple sclerosis patients treated with the pregnancy hormone Estriol. American Association of Immunology; 90th Anniversary Annual Meeting. Denver, Colorado, May 6-10, 2003.
7. A I. Alvarez, R. Kumar-Sigh, D. Farber, Development of novel adenoviral vectors for gene transfer to photoreceptors. Fifth Annual Science Vision Conference sponsored by the Jules Stein Eye Institute and the National Eye Institute, UCLA Lake Arrowhead Conference Center, Lake Arrowhead, CA, October 1999.
8. A I. Alvarez, D. Farber, Quantitative RT-PCR for determination of the different cGMP-PDE subunit levels in rat retinas exposed to lead. Third Annual Science Vision Conference sponsored by the Jules Stein Eye Institute and the National Eye Institute, UCLA Lake Arrowhead Conference Center, Lake Arrowhead, CA, October 1997.
9. A I. Alvarez, M. Duran, M. Molina, E. Arostegui, R. Martin, M.L. Onaindia, M.I. Tejada. Molecular screening of the Rhodopsin gene in 65 retinitis pigmentosa patients from the Basque Country. 46th ASHG Annual Meeting. San Francisco, October 29- November 2, 1996. Published in The American Journal of Human Genetics (1996) 59(4): 391.
10. Tejada M.I., Durán M., Martinez Tx., Loidi B., Fdz-Toral J., Coto E., Bernal A., Onaindia M.L., Alvarez A. I., Molina M. Molecular study of 40 Fragile X families from the North of Spain. 28th Annual Meeting of the European Society of Human Genetics, London. April 11-13, 1996. Published in European J. Human Genetics (1996) 4, 1:115.
11. Molina M., Onaindia M.L., Tejada M.I., Lopez Valverde M., Martinez Tx :, Barreña B., Durán M., Alvarez A. I. Translocación X-Autosomal: diagnostico prenatal y asesoramiento genético. XVIII National Congress of Human Genetics, Seville, Spain, 1995.
12. Onaindia M.L., Tejada M.I., Lopez Valverde M., Martinez Tx., Barreña B., Durán M., Alvarez A. I, Molina M. Malformaciones ecograficas y cromosomopatías. Resultados de 3.950 diagnosticos prenatales en liquido amniotico. XVIII National Congress of Human Genetics, Seville, Spain, 1995.
13. Onaindia M.L., Lopez Valverde M., Tejada M.I., Martinez Tx., Barreña B., Alvarez A. I, Durán M., Molina M. Estudio citogenético de liquido amniotico. XVIII National Congress of Human Genetics, Seville, Spain, 1995.
14. Durán M., Alvarez A. I, Molina M., Onaindia M.L., Tejada M.I. Desequilibrio de ligamiento entre la expansión del triplete CGG y el microsatélite DXS 548 en el sindrome del cromosoma X- Frágil. XVIII National Congress of Human Genetics, Seville, Spain, 1995.
15. Alvarez A.I., Durán M., Molina M., Arostegui E., Martin R., Onaindia M.L., Tejada M.I., Búsqueda de mutaciones en el gen de la Rodopsina en familias con Retinosis Pigmentaria Autosomica Dominante de la Comunidad Autónoma Vasca. XVIII National Congress of Human Genetics, Seville, Spain, 1995.
16. Tejada M.I., Durán M., Alvarez A.I., Onaindia M.L., Molina M., Prenatal Diagnosis of Fragile X syndrome: Abnormal methylation in a premutated mother and in her female normal fetus in chorionic villi. 27 Annual Meeting of the European Society of Human Genetics, Berlin, May 23- 27, 1995. Published in Med. Genetik (Berlin, 1995), 2:152.
V. HONORS AND AWARDS
Jun 2005 Accepted in the K30 clinical and translational research curriculum award. This program held at UCLA was developed by NIH and is consistent with the recommendations of the NIH Director’s Panel on Clinical Research, as well as those from the Institute of Medicine Committee on Addressing Career Paths for Clinical Research. http://grants2.nih.gov/training/k30.htm. http://www.k30.ucla.edu/.
Jun 2004 Key personal in the NIH RO1 grant “Macrophage Function in Alzheimer Disease”
Nov 1999 Special award granted by the Academy of Medical Sciences in Bilbao to the Genetics Unit at Basurto Hospital for the work “Clinical, Cytogenetic and Molecular Genetic Studies in Retinitis Pigmentosa Patients“.
Mar 1997 Fellowship granted by the Ophthalmology department from the University of California at Los Angeles (UCLA), for work on research projects related to Molecular Biology of Eye Disorders.
Jul 1996 Financial Aid granted by the Spanish Society of Human Genetics to attend the "III Meeting to Update on Human Genetics". Bilbao (Spain). October 1996.
Jan 1996 Fellowship granted by the Research Committee of Basurto Hospital to continue the project on Retinitis Pigmentosa.
Jan 1995 Fellowship granted by the Genetics Unit at Basurto Hospital to work on the research project of Retinitis Pigmentosa disease in patients within the Basque Country.
Dec 1994 Special Award from the Basque Foundation of Research on Retinitis Pigmentosa to the Genetics Unit at Basurto Hospital.
Jan 1994 Fellowship granted by the National Foundation of Blindness to work on a research project related to Retinitis Pigmentosa at Basurto Hospital in Bilbao (Spain).
1991 Scholarship granted by the "Multiple Sclerosis National Foundation" to participate on a research project at the Regional Hospital "Carlos Haya" in Málaga, Spain.
1977-1981 Several scholarships throughout Secondary & High School (1977, 78, 1981).
1967 Special award to Writing, Reading & Behavior.
VI. TECHNICAL SKILLS
Research Expertise in Genomic, Plasmid and Viral DNA manipulations, including Restriction Enzyme Digestion and Restricted Fragment Length Polymorphism (RFLP) analysis, DNA and RNA Isolation. Polymerase Chain Reaction (PCR) (Simplex, Multiplex, Reverse Transcriptase (RT) Quantitative and Competitive, Allele-specific and Real-Time PCR (Taqman)). Horizontal and Vertical Electrophoresis (Agarose and Polyacrylamide Gels). Analysis of Polymorphisms through Denaturing Gradient Gel Electrophoresis (DGGE). Hybridization, Northern and Southern Blotting methods. DNA sequencing gels. dNTPs synthesis. Plasmid Preparations. Bacterial cultures. Cloning (several kinds of plasmids and vectors). Genotyping.
Western Blot analysis; ELISA; Flow Cytometry (FACS) for Cell Surface Markers. Calcium Flux; and Cytometric Bead Assay (CBA).
Cell Culture. Lymphocyte Isolation. Cell Proliferation Assays (radioactive and non-radioactive); cell transfections (transient & stable) and viral infections.
Viral (Adenoviral) vectors for Gene Therapy.
Computers PC & Macintosch. Proficient in Microsoft Office, Word, Excel; Power Point, Access, Page Maker; PhotoShop; Microsoft Outlook; Microsoft Exchange; Alpha Imager and other software. Genetic Analysis Programs: Genotyper, Genehunter, Mapmaker-Sibs, Haploview, Whap, Plink, Nexus, PennCNV.
Basics in SAS.
Systems: Clinical Trial Management System (CTMS), DataLabs. Electronic Trial Master File (eTMF), Electronic Data Capture (EDC) & specific servers.
VII. PROFESSIONAL SOCIETIES AND JOURNALS
Reviewer for the Journal Comparative Biochemistry and Physiology.
Ex-member of the American Society of Human Genetics (ASHG).
Ex-member of the Spanish Association of Human Genetics (AEGH).
Spanish (native); English (proficient); German (basic/intermediate); Basque (basic/intermediate).
See appendix 1 for work in press/different media.
References available upon request.