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Subject: Biology and genetics

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email: botta@uniroma2.it

office: 0672596078

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1. Personal Statement

Dr. Annalisa Botta’s primary focus is the characterization of human-disease genes (Cystic Fibrosis, Thomsen disease, kidney disease, DiGeorge syndrome, psoriasis, spinal muscular atrophy and myotonic dystrophy).  Dr. Botta spent her undergraduate and early postgraduate years studying genetics of Cystic fibrosis, Thomsen disease and DiGeorge syndromes.  She continued her work on DiGeorge Syndrome becoming Research Assistant at Baylor College of Medicine in Houston, Texas.  She collaborated with Prof. Allan Bradley to develop the first mouse model of DiGeorge syndrome using the Cre-LoxP technology.  The results of these studies are documented by several papers published on high-quality international journals (Botta et al. 1997; Lindsay et al. 1999; Botta et al. 2001). Currently, she coordinates the neuromuscular group at the Medical Genetics Section of Tor Vergata University, which is one of the main Italian health care centres for the molecular diagnosis of rare genetic disorders.

In 2004, Dr. Botta became Researcher at the University of Rome, Medical Genetic Section. This unit undertakes a broad spectrum of research from the basic mechanisms of genetic diseases to translational projects involving gene therapy strategies and novel diagnostic methods for prenatal diagnosis. In this period, she started two lines of research in the neuromuscular disease field: spinal muscular atrophy (SMA) and myotonic dystrophies (DMs). As a genetic counselor at Tor Vergata Hospital, she had the opportunity to collect DNA and tissue samples and managed more than 1000 DM1 and DM2 families. The clinical activity led to the development of National Guidelines for the molecular diagnosis of spinal muscular atrophy and myotonic dystrophy. Her long-term commitment to this field of research is witnessed by the number of peer-review publications on the pathogenetic mechanisms of neuromuscular diseases.

Dr. Botta has over 50 original scientific publications and H index is 15. Reviewer of Neuromuscular disorders, Acta Myologica, Human Genetics, Journal of Medical Genetics, Neurological Sciences, European Journal of Human Genetics, Journal of Neurology, European Journal of Histochemistry, European Journal of Neurology. Moreover, she has experience in the administration of projects and management of International collaborations being PI and co-PI for numerous grants funded by the Italian Ministry of Research, Italian Ministry of Health, Italian Telethon and AFM.

Since 2004, she has been also teaching professor of Medical Genetics courses in the Faculty of Medicine at Tor Vergata University of Rome.

1. Positions and Honors

1994-1996                              Researcher Assistant in Medical Genetics, Tor Vergata University, Rome, Italy

1996-1997                 Researcher Assistant in Molecular Biology, Baylor College of Medicine, Houston, TX, USA

1997-2001                  Researcher Assitant in Human Genetics, Tor Vergata University, Rome, Italy

2001- 2003                 Medical Genetics Counselor, “Tor Vergata” Hospital, Rome, Italy

2004 to present          Researcher in Medical Genetics, Tor Vergata University of Rome, Italy

2015 to present          Clinical activity in the Medical Genetics Section of Tor Vergata Hospital, Italy.