My first and most important goal is to establish a strong foundation in science by attracting first-rate investigators who seek to excel. The participation and support of my colleagues, particularly those who are the most prominent figures in the basic and clinical sciences, will be critical to achieving this goal. The second goal is to define CHINJ’s identity by consolidating our scientists into a few research programs that focus on the fundamental aspects of vertebrate development which are relevant to congenital malformations and developmental disabilities. CHINJ will also play an important role in translational research, education and training, and in supporting the research activities of the entire UMDNJ community. To achieve these goals, the Institute will serve as an intellectual bridge between clinical and basic scientists, as an academic incubator of future leaders in biomedical research, and as a laboratory to advance new technologies.

I began working on congenital disorders during my postdoctoral training in the
laboratory of Paul Marks and Arthur Bank at Columbia University. Specifically, my work focused on determining the precise nature of the mutations in the globin genes responsible for the different forms of thalassemia, a common blood disorder of the Mediterranean basin also known as Cooley’s anemia. These were the early exciting days in which the application of molecular genetics to health-related problems was still in its infancy, and the concepts of prenatal diagnosis by DNA analysis, disease identification by genetic linkage and gene therapy were first formulated. Soon after joining the faculty of the then UMDNJ-Rutgers Medical School (now Robert Wood Johnson Medical School), I established the first DNA lab in the tri-state area for prenatal testing of sickle cell anemia.

On the research front, my interest switched from blood to connective tissue disorders under the influence of the outstanding collagen program headed by Darwin Prockop in the Department of Biochemistry. During this period, my laboratory cloned several human collagen genes and used these molecular probes to identify for the first time the genetic lesions causing osteogenesis imperfecta (brittle bone disease), various types of Ehlers-Danlos syndrome and severe and lethal forms ofchondrodysplasias. Around this time, I met Priscilla Ciccariello, the founder of a support group for families affected by Marfan syndrome, who gently but firmly recruited me into her organization. A few years later at Mount Sinai, our group published, simultaneously with those of Lynn Sakai and Hal Dietz, the identification of the gene responsible for this devastating disorder. True to herself, Priscilla again worked behind the scenes to change the three of us from competitors to collaborators. As a result, we are now bound together by an NIH Program Project in the ambitious undertaking of finding a cure for the most problematic manifestation in Marfan syndrome: aortic aneurysm and dissection.

Because of the overall focus on developmental disorders of our research program, there is an obvious synergy between CHINJ and the Bristol-Myers Squibb Children’s Hospital. The partnership is strengthened by the leadership and vision of Dan Notterman, chair of pediatrics at Robert Wood Johnson Medical School, who is building the first academic pediatric campus in New Jersey. I look forward to working with him to develop a comprehensive research and clinical program
in child health as well as a competitive training program for physician-scientists. There are many additional opportunities for interactions with other clinical departments whose research interests are germane to ours — such as pathology, surgery and neurology, to name just a few. We also look forward to collaborations with The Cancer Institute of New Jersey, and in the future, with the Cardiovascular Institute of New Jersey and the Stem Cell Institute of New Jersey.

Alberto Monroy, an international leader in developmental biology, was my mentor when I was a student, and instilled in me the love for the scientific inquiry. Arthur Bank taught me how to think and work as an independent investigator. Priscilla Ciccariello showed me the value of being more than a professional scientist.

Accomplishments in science, like any other human activity, are the product of multiple, and at times unrecognized, contributors. So I’ll answer this question by listing my top three contributions:

• Discovering the genetic underpinning of several human
  diseases that affect the lives of children and adolescents;
• Making a difference for those families living the daily reality of a loved-one affected by those genetic disorders;
• Bringing genetics and developmental biology into the field of matrix biology.