Yaffa Rubinstein
National Institutes of Health, USA
Title: Interoperability of bio-repositories data and patient registries data: The rare disease prospective
Biography
Biography: Yaffa Rubinstein
Abstract
Many of the problems and difficulties associated with biospecimens for common diseases also apply to rare diseases biospecimens. In the latter, however, these problems are more acute, because of the additional challenges that uniquely pertain to research in rare diseases. Rare disease biospecimens, to the extent that they are available, are widely dispersed across geographical regions and among various government supported and private bio-repositories.
Biorepositories (Biobanks) can provide the fuel to stimulate collaborations between patients, researchers and industry to accelerate research to develop drugs, therapeutics and, hopefully cures for these rare diseases. bio-specimens with well annotated clinical information are essential for medical research, specifically in the era of personalized and precision medicine. Because of the rarity of these biospecimens, global sharing and collaboration for standardization of high quality of samples with the associated data and interoperability between the different databases collecting patient’s samples and data is important.
Unfortunately, this effort is being hampered due to a combination of many factors which includes lack of standardization in data collection and the quality of the samples. Also lack of a consensus on human subject issues, ethical, legal regulations (informed consent, ownership, and patient privacy), interferes with global sharing of material and the associated data,
The rare disease needs, challenges and initiatives to address these hurdles will be discussed.