Biospecimens/Biorepositories: Rare Disease Hub (RD-HUB)

Frequently Asked Questions (FAQs)

Below we offer answers to frequently asked questions about the Biospecimens/Biorepositories Website: Rare Disease-HUB (RD-HUB) and database. Click on a question below to view answers. We also recommend you review User Manuals-Data Entry and User Manual-Database Search . Should you have further questions, please contact us.



How do I register my biorepository with your database?

How can I determine whether my biorepository is registered with your database?

How can I be added as a user to a registered biorepository?

How do I obtain log-in credentials for my registered biorepository?

How do I upload biospecimens data?

How do I search for biospecimens?

What are the required fields for entering biorepository data?

Who is responsible for updating biorepository data?

What type of biorepositories can contribute? Only those that collect biospecimens on rare diseases?

What is a rare disease? Is the definition the same for Europe?

We have a donor. Could you direct us to a biorepository that would be willing to accept and store a biospecimen?

I am a tissue donor. Could you direct me to a biorepository to which I can donate my sample?

We are no longer able to store a biospecimen. Could you assist us in locating a new home for the biospecimen?

Can contributing biorepositories remove their data from the database?

Do you post the names of non-contributing biorepositories?

Will you provide information about who is inquiring about our biorepository?

Can you post my biospecimen-related protocol on your Web site?

Who can I contact with questions?

How do I register my biorepository with your database? (back to top)
To register your biorepository, please complete an online registration form. You should expect to receive an e-mail from us within 48 hours. If you do not receive a response within 48 hours, please contact Yaffa Rubinstein, Ph.D., at rubinsty@od.nih.gov.

How can I determine whether my biorepository is registered with your database? (back to top)
Search the RD-HUB database for your biorepository.

How can I be added as a user to a registered biorepository? (back to top)
You can have an existing user of your biorepository’s account add you as a new user, or you can contact Yaffa Rubinstein, Ph.D. at rubinsty@od.nih.gov. Please be sure to include your full name, contact information, and the name of the biorepository to which you would like to be added in your e-mail. Once you have added as a user, you will receive an e-mail with your log-in credentials.

How do I obtain log-in credentials for my registered biorepository? (back to top)
Please contact us.

How do I upload biospecimens data? (back to top)
Please refer to the User Manual-Data Entry.

How do I search for biospecimens? (back to top)
Please refer to the User Manual-Database Search.

What are the required fields for entering biorepository data? (back to top)
Detailed information about each biorepository and their biospecimens is collected; however, below are the required fields for successfully adding biospecimens to our database.

General Biorepository Information
  • Name
  • Telephone
  • E-mail
  • Country
  • Description (Statement describing the purpose of the biorepository and the types of biospecimens in the collection.)
  • URL
  • Limitations (indicate whether the following apply: use restricted to scientific/medical research; may not be used for commercial purposes; only approved investigators can apply; not transferable to third parties; acknowledgment of biorepository required; collaboration required; other (please specify))
Biospecimen Information
  • Disease name or Normal designation (disease = specimens show evidence of disease as reviewed by H & E staining, molecular analysis, genetic analysis, phenotypically affected donor, or other methods; normal = specimens show no evidence of disease as reviewed by H & E staining, molecular analysis, genetic analysis, phenotypically unaffected donor, or other methods)
  • Specimen Type
  • Specimen by Anatomic Source
  • Storage Method
  • Processing Method
  • Imaging
The following information is also collected for biospecimens, but is optional.
  • OMIM number
  • Tissue Donor
  • Type of Consent
  • Number of Samples
  • Ethnicity
  • Race
  • Gender
  • Patient Age
  • Cost per Sample
  • Specimen and Patient Information


Who is responsible for updating biorepository data? (back to top)
Information is provided by and updated by the biorepository’s staff.

What type of biorepositories can contribute? Only those that collect biospecimens on rare diseases? (back to top)
Our focus is to collect information about rare diseases as well as cancer and other diseases.

What is a rare disease? Is the definition the same for Europe?
Rare or orphan disease is generally considered to have a prevalence of fewer than 200,000 affected individuals in the United States. Certain diseases with 200,000 or more affected individuals may be included in this list if certain subpopulations of people who have the disease are equal to the prevalence standard for rare diseases. In Europe, a rare disease is defined as a disease affecting less than 5 per 10, 000 inhabitants, is fatal, or severely debilitating.

We have a donor. Could you direct us to a biorepository that would be willing to accept and store a biospecimen? (back to top)
We will be happy to assist you. Please contact us.

I am a tissue donor. Could you direct me to a biorepository to which I can donate my sample? (back to top)
We will be happy to assist you. Please contact us.

We are no longer able to store a biospecimen. Could you assist us in locating a new home for the biospecimen? (back to top)
We will be happy to assist you. Please contact us.

Can contributing biorepositories remove their data from the database? Do you post the names of non-contributing biorepositories? (back to top)
Participation is voluntary and a biorepository may request to have their data removed at any time. If you would like your data removed, contact us.

Do you post the names of non-contributing biorepositories? (back to top)
The names of non-contributing biorepositories may be included in the “Repository” section of the search Web page; however, they will be grayed out. Should they decide to contribute biospecimens information, their repository name will no longer appeared grayed out and will be added to the list of contributing repositories.

Will you provide information about who is inquiring about our biorepository? (back to top)
This information will not be made public. The knowledge we gain by this information will be used to improve our Web site to make it more responsive to the needs of its users.

Can you post my biospecimen-related protocol on your Web site? (back to top)
We only post protocols that have been published in a peer-reviewed journal.

Who can I contact with questions? (back to top)
For project-related questions, please contact Yaffa Rubinstein using the contact information provided below.

Yaffa Rubinstein, PhD.
Director of Patient Resources for
Clinical and Translational Research
Office of Rare Diseases Research,
NIH-OD/ORDR
6100 Executive Blvd. 3A07
Rockville, MD 20892-7518
Phone: (301) 402-4338
Fax: (301) 480-9655
E-mail: rubinsty@od.nih.gov
Web site: http://rarediseases.info.nih.gov/