Background:
Studies show that rare genetic variants might lead to diseases. Researchers want to collect blood and tissue samples so they can study them and better understand diseases.
Objective:
To collect blood and tissue samples for studies to identify underlying causes of disease.
Eligibility:
People of all ages
Design:
Participants will have blood and/or tissue samples collected.
Samples can be collected at the NIH Clinical Center. Participants doctors can collect the samples and send them to NIH. NIH staff can collect samples off site.
For blood samples, blood is taken from an arm vein using a needle.
Tissue collection may involve:
Buccal smear: Cells are collected by scraping the inside of the cheek with a cotton swab.
Saliva collection: Participants spit into a cup.
Skin biopsy: A special needle takes a very small skin sample.
Surgical waste tissue: If participants have surgery, NIH may receive samples of tissue that
would routinely be removed.
Umbilical cord or cord blood collection: If a participant has a baby, NIH may receive a
small piece of the umbilical cord or blood from the cord once the baby is delivered.
...
Age: older than 1 month of age
Affected pregnant women if they have been referred with a known or suspected pathology or if they become pregnant while on study.
Unaffected related pregnant women (including spouses/partners) for cord blood and tissue collection (surgical waste) only at the time of delivery.
Cognitively impaired individuals that are affected
Healthy volunteers unable to give informed consent
Cognitively impaired individuals who are not affected
Cognitively impaired individuals who are not related to affected subjects.
Affected or unaffected cohorts (including genetic carriers or non-carriers as reference biospecimens)
Case-only
Cross-sectional
Not listed
To procure human biospecimens from affected and unaffected cohorts for on-going and future basic and translational research studies to identify underlying disease mechanism(s)
The primary objective is to procure human biospecimens from affected and unaffected cohorts for on-going and future basic translational research studies to identify underlying disease mechanism(s) and potential therapeutic approaches
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