Donate Samples
Donating Samples and why they are Important
Biological samples are critical for expanding our knowledge of rare genetic disorders. Our team uses multidisciplinary assays to study molecular mechanisms underlying these rare conditions. Cell samples from your blood and skin samples will allow us to provide you a diagnosis and pave the way for identifying treatments and other therapeutic options.
Data Dictionary
Gene Disorder
Study Participants
Genetic Disorder
Bohring-Opitz Syndrome
Shashi-Pena Syndrome
35
Bainbridge-Ropers Syndrome
KAT6A Syndrome
KAT6B Syndrome
BRPF-1 Syndrome
Coffin-Siris Syndrome
SETD1B Neurodevelopment Disorder
Myoclonic Encephalopathy
2
12
18
11
8
1
1
1
How to start donating samples!
1. Parents must complete a quick questionnaire online about their child’s medical history and test results from their physicians. Please email Dr. Bianca Russell for these questionnaires (ASXL-CHROMATIN-REGISTRY@mednet.ucla.edu). This information is kept on a secure server and identified information is strictly confidential and accessed only by researchers in charge of the study. De-identified information may be accessible to other researchers, members of the registry advisory board, and the study participants.
3. Throughout the process, you will have the opportunity to share information through online questionnaires that cover medical history and diagnosis, treatment and therapy interventions, as well as growth and development. Your child’s physician may also be contacted to gather additional information about your child’s phenotype.
Types of Samples
Blood samples (typically between 8 and 15ml / 2tsp and 1tbsp). We will not ask for more blood than is safe to draw for your body.
A skin biopsy is a removal of a small piece of skin about half as big around as the tip of a new crayon. We will use numbing medicine and steristrips. Stitches won’t be required.
DNA
25
14
11
11
2
6
1
1
1
2. The second step includes a phone interview with Dr. Bianca Russell or other researchers in charge of specific studies. You will subsequently be asked to sign a consent form that gives permission to use your child’s health information and biological sample with the REACH biobank and the UCLA Arboleda Lab.
4. We then collect samples from your child or other family members with known or suspected genetic disorders. We will ask for blood, saliva, or skin biopsy samples.
Another method of donating samples and contributing to research is to be part of Dr. Russell’s BOS'/ASXL Registry. This registry has been created to collect information about Bohring-Opitz Syndrome and ASXL related disorders in order to achieve a better understanding of these rare conditions for patients, caregivers and medical professionals. Individuals (including BOS angels) with a clinical or molecular diagnosis of Bohring-Opitz syndrome or who have mutations in ASXL genes are invited to contribute to this ethics approved study.
RNA
26
14
11
11
2
6
1
1
1
PBMC
19
15
3
0
1
6
1
1
1
Fibroblast
9
5
9
0
0
0
0
0
0