SCIENTIFIC PRODUCTIVITY - 2020

Scientific research allows for highly relevant results in terms of breakthroughs and opportunities in the

biomedical field. We hope that these developments will soon lead to therapeutic advances for children

suffering from a rare disease like Ring14 syndrome. However, all this requires medium to long term

planning which, in the meanwhile, should also provide "intermediate outcomes" from scientific

publications, presentations at scientific conferences to awarding of funds from government and private

agencies to further research efforts. These results constitute the so called "scientific productivity" of a

researcher, which for Ring14 International, as well as for any other organization that deals with financing

and promotion of scientific research, represents an important element in order to constantly monitor the

impact of the utilized efforts and resources.

Scientific production can be evaluated using very precise bibliometric indices (Carpenter CR, Acad Emerg

Med, 2014), and although the limited number of years that Ring14 International has been supporting

research programs does not allow us to make a thorough analysis, we can, however, already derive some

indicative values from the research we have promoted.

To date, we have published 15 scientific articles (plus 3 to be published in 2018) through Ring14 funding to

research centers or through our direct cooperation in facilitating research projects, such as the creation of

the Clinical database or " biobank” project [Figure 1]. It is important to note that since 2009 at least one

article per year has been published with funds provided by Ring14 International [Figure 2, histogram in

red].

At the end of 2017, these published articles have received 116 citations (33 new cites received in 2017)

from scientific studies (source: Google Scholar) with an average of 9.7 per article (considering articles

published until 2016). In Figure 1 you can see the incremental value of the citations obtained year after

year [Figure 2, blue line]. Therefore, the published results obtained by researchers funded by Ring14

International have been helpful in achieving new scientific discoveries and advancing research on

syndromes of Chromosome 14.

If we analyze the research areas of greatest interest, we can see that about half of the articles (53%) have

been published in journals that fall into the categories of "Genetics"; other articles have been published in

disciplines that deal with "Studies on language", "Neurology", "Pediatrics" and "Biology" [Figure 3].

Evaluating the most commonly used in the field of bibliometric indices, the journals that have published

articles promoted by Ring14 International have an h-index average of 71.8 (it was 63.6 last year, source:

SCImago) attesting a significant increment of the quality level of research published with the support of

Ring14 International.

During these years the scientific research promoted by Ring14 International has been presented at dozens

of scientific conferences, among which the most important are:

- 8th ECRD (The European Conference on Rare Diseases & Orphan Products): 26-28 May 2016 in Edinburgh

(Scotland)

- 66th ASHG (The American Society of Human Genetics meeting), 18-22 October 2016, Vancouver (Canada)

- David W. Smith 30th Workshop on Malformations and Morphogenesis, 5-9 August 2009, Philadelphia

(USA)

- Narrative Medicine and Rare Diseases Meeting (National Institute of Health), June 26, 2009

- Developmental Neuropsychology Days: 21-24 January 2009, Brixen.

In addition, through collaboration with Ring14, some researchers have been able to obtain additional

financing from very authoritative bodies, including the Telethon foundation (researcher: Zuffardi O.,

University of Pavia) and NIH-USA (researcher: Spinner N., University of Pennsylvania, USA).

Ring14 International – Scientific office Last updated: December 2017