
Biobank
To JOIN please select the CURE GABA-A Variants Foundation for the biorepository donation. CURE GABA-A has set aside funding to pay for annual storage fees.
Which Samples Will Be Collected?
COMBINEDBrain – Outcome Measures and Biomarkers for Neurodevelopmental will be collecting:
1. Whole Blood
2. Plasma
3. Serum
4. Urine
5. Dried Blood Spot
6. Nasal Swab (Unravel)
To create an iPSC cell line for your child a 10ml CPT tube (PBMC isolation) will be collected at an additional cost.
2025 Collection Dates
Hereditary Neuropathy Foundation |
April 25-26th |
Nashville, TN |
Coalition to Cure CHD2 |
June 13-15th |
Westminster, CO |
Prader Willi Syndrome |
June 27-28th |
Phoenix, AZ |
Med13L Foundation, CTNNB1 Connect & Cure |
July 10-12th |
Boston, MA |
Koolen de Vries Syndrome Foundation |
July 17-18th |
Chicago, IL |
CSNK2A1 Foundation |
July 18-19th |
Denver, CO |
The Stiff Person Syndrome Research Foundation |
July 19-20th |
Windsor Locks, CT |
KCNQ2 Cure Alliance |
Sept/Oct TBD |
Philadelphia, PA |
SRF, SLC6A1 Connect, CURE GABA-A |
Dec 4-5th |
Atlanta, GA |
Why Donate?
Biomarkers
- Objective measurements of something in your blood, urine, spit, etc
- Can be helpful in classifying variants of uncertain significance (VUS)
- Monitor progression/severity of disease
- Can be used for measuring success of a new treatment
Proteomics
- Proteomics = study of proteins
- Compare the thousands of proteins in your kid’s blood to healthy controls
- Can be used to find biomarkers
Other types of studies
- Metabolomics
- Methylomics
- RNA sequencing
IPSCs (Induced Pluripotent Stem Cells)
- Can be made from PBMCs (blood) or fibroblasts (skin)
- Differentiated into neurons or organoids
- IPSC-derived neurons mimic human brains
New Opportunity for Drug Screening through non-invasive nasal swabs
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CURE GABA-A is interested in collecting 10-15 samples per gene to initiate a drug repurposing project with Unravel.
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The proposal would include generating RNAseq patient datasets to power drug discovery by testing repurposed drugs.
- Unravel has developed a home collection kit for patient RNAseq data generation that enables international patient communities to directly and cost-effectively participate in rareSHIFT
PBMC Collection
Fibroblast Collection
What is a Biorepository?
A biorepository is a specialized facility that collects, stores, processes, and distributes biological samples, such as blood, saliva, tissue, or DNA, for use in research and clinical studies.
These facilities play a critical role in advancing medical research by providing scientists with high-quality, well-documented patient biosamples. Biorepositories help researchers study disease mechanisms, test potential therapies, and develop diagnostic tools, making them essential to understanding a disease.
Why Start a Cell Line?
Creating a cell line, such as induced pluripotent stem cells (iPSCs) derived from your child’s cells, offers significant benefits:
- iPSCs enable tailored approaches to understanding and treating your child’s specific variant.
- These cell lines serve as a resource for advancing research that could benefit entire patient communities.
By participating in iPSC research, you contribute to both personalized medicine for your child while contributing to a broader understanding of GABAAR disorders that may lead to breakthroughs for others.
What Can I Do About It?
Starting a cell line for your child can enable tailored treatments, safer drug testing, and advancements in gene or regenerative therapies. Our community is here to help you build that cell line if you are pursuing precision medicine objectives. It also contributes to scientific research by helping identify disease mechanisms and accelerating therapeutic discoveries. A cell line offers a long-term resource as medical technologies evolve and empowers families to actively support research while fostering broader scientific collaboration.
Does Every Patient Need A Cell Line?
At this stage, CURE GABA-A is building its biorepository, and all cell lines are welcomed to ensure comprehensive representation of the community. So not every patient will need a cell line in the future.
A well-organized collection of representative cell lines, capturing the genetic and clinical diversity of the condition, is often sufficient for advancing research.
How Can I Fundraise For My Cell Line?
At this stage, CURE GABA-A you can fund your child’s cell line through CURE GABA-A`s platform. The estimated cost of building a cell line is $8,300 USD. You can visit our campaign page.
Why Is A Biorepository Useful For A Patient Advocacy Group?
- Accelerating Research Biorepositories help collect biological samples from the community, allowing researchers to uncover disease causes, identify biomarkers, and explore treatment options.
- Facilitating Collaboration Centralizing samples and data attracts partnerships with academic institutions, pharmaceutical companies, and government organizations, leading to scientific breakthroughs.
- Ensuring Representation Rare and under-researched diseases often lack visibility in large-scale studies. A biorepository ensures the patient community is included, closing gaps in research.
- Advancing Precision Medicine Biorepositories integrate genetic, clinical, and biological data to develop personalized treatment approaches, critical for rare and complex conditions.
- Attracting Funding and Partnerships A biorepository demonstrates a commitment to advancing research, making advocacy groups more appealing to funders, researchers, and collaborators.
- Supporting Clinical Trials Samples in a biorepository help researchers identify eligible participants for clinical trials, speeding up recruitment and improving trial design.
What Happens To My Bio Sample If I Just Donated Blood, Urine or Saliva?
CURE GABA-A initially requested that all blood samples undergo an additional step for PBMC (peripheral blood mononuclear cell) collection.
This will be dependent on your collection date. Please verify with CURE GABA-A for more details about your sample.
PBMCs are a diverse group of blood cells, including lymphocytes (T cells, B cells, and natural killer cells) and monocytes, which are critical to immune system function. These cells are widely used in research for studying immune responses, disease mechanisms, and potential therapies.
COMBINEDBrain utilizes biological samples, including PBMCs and other types of biospecimens, in a variety of current projects, such as:
- Disease Mechanism Research: Understanding the underlying molecular and cellular mechanisms of rare neurodevelopmental disorders.
- Biomarker Discovery: Identifying biological markers that can be used for early diagnosis, monitoring disease progression, or evaluating treatment efficacy.
- Therapeutic Development: Supporting the development of targeted therapies by providing patient-derived cells for drug screening, testing, and validation.
- iPSC Derivation and Differentiation: Creating induced pluripotent stem cells (iPSCs) from patient samples for studying disease in vitro and modeling specific cellular dysfunctions.
- Genomic and Transcriptomic Studies: Analyzing genetic mutations and gene expression patterns to better understand the genetic basis of specific disorders.
- Cross-Disorder Comparisons: Examining shared and distinct biological features across different neurodevelopmental conditions to identify broader therapeutic targets.
Please contact CURE GABA-A to inquire about which studies your specimen is eligible for and to confirm which specific project your specimen is being utilized in. This will provide clarity on how your contribution is advancing research and which aspects of the ongoing studies your specimen supports.
Together We Are One Step Closer to CURE GABA-A
Why is biobanking important?
Finding and Learning About Variants
Biomarkers help scientists discover and understand different GABA-A Variants. These variants can act in different ways and are linked to certain brain problems. Biomarkers are like signs that show which variant is which.
Diagnosing and Checking for Diseases
Biomarkers related to specific GABA-A Variants can help doctors find out if someone has a brain problem. For example, they can tell if someone might have epilepsy, anxiety issues, or schizophrenia. These signs help doctors start treatment early.
Seeing if Treatments Work
Biomarkers help scientists check if treatments are working for people with GABA-A Variants. This is really important because some brain problems need different treatments. Biomarkers help scientists and doctors know if the treatment is helping or not.
Making New Medicines
Biomarkers are like guides when scientists make new medicines for GABA-A Variants. They help scientists choose the right ingredients and make sure the medicine works well.
Understanding How Things Work
Biomarkers give clues about how GABA-A Variants work in the brain. This helps scientists understand why people have different brain problems and how they can fix them.
Predicting and Planning
Biomarkers can also help predict if a brain problem will get worse or not. This helps doctors make plans to help patients better.
Speeding Up Research
Biomarkers make research faster and easier because they show exactly what’s happening in the brain. This means scientists can do more experiments and learn more quickly.
Biomarkers are super important in GABA-A Variant research. They help find, understand and treat GABA-A Variants.
Have a doctor’s appointment coming up?
How to ensure biological samples are sent to the COMBINEDBrain biorepository under CURE GABA-A for GABAAR-related disorders
If a patient is planning a medical procedure or doctor’s appointment, here’s how they can ensure their biological samples are sent to the COMBINEDBrain Biorepository under the CURE GABA-A initiative:
Steps to Request Sample Collection and Transfer
1. Discuss the Plan with Your Physician
• Before the appointment, inform your doctor about your request to have biological samples (e.g., blood, cerebrospinal fluid, tissue, etc.) collected during the procedure or visit.
• Provide details about the COMBINEDBrain Biorepository and the CURE GABA-A initiative to ensure your doctor understands its importance.
2. Contact CURE GABA-A
• Request any necessary paperwork or consent forms from the physician to complete before the appointment.
3. Obtain a Sample Collection Kit (if required)
• Some samples may require specific collection kits provided by the COMBINEDBrain Biorepository. Coordinate with CURE GABA-A in advance to ensure you have the kit ready for the procedure.
• Follow any storage or transportation guidelines outlined by the biorepository.
4. Inform the Medical Facility
• Notify the hospital or clinic ahead of time about your intention to send the samples to the COMBINEDBrain Biorepository.
• Share the collection and shipping instructions provided by COMBINEDBrain to ensure proper handling of the sample.
5. Coordinate Sample Handling on the Day of the Appointment
• Bring any required documentation and collection kits with you to the appointment.
• Ensure the medical staff collects the sample according to the instructions provided by COMBINEDBrain.
6. Ship the Sample
• After the sample is collected, arrange for its immediate shipment to the COMBINEDBrain Biorepository.
• Follow all provided guidelines to ensure the sample remains viable during transportation. Please note that the hospital or clinic may ship on your behalf.
7. Confirm Receipt
• After shipping the sample, confirm with COMBINEDBrain that it was received and properly logged into their biorepository.
Disease Research: Dr. Ramin Eskandari on Neurosurgery, Biorepositories and Empowering Families and medical teams to save residual samples
In this episode, I’m (Effie Parks) joined by Dr. Ramin Eskandari, a pediatric neurosurgeon at MUSC who is revolutionizing rare disease research through his innovative work with biorepositories. Dr. Eskandari shares how his dedication to helping children and families has driven him to create a system that collects and preserves valuable CNS samples—residual materials that would otherwise be discarded. We discuss the incredible impact of these efforts on the future of rare disease therapeutics and how families can play an active role in advancing research.
Friend or family member?
Not A Patient? Here’s How You Can Support?
If you’re a friend, family member, or simply someone who would like to support our work, you can help by generously making a donation. By donating, you’re directly supporting the creation of iPSC lines and funding scientific grants that bring us one step closer to CURE GABA-A.
How Your Donation Helps:
- Funds the development of life-changing iPSC lines for research
- Supports innovative scientific projects focused on understanding and treating GABA-A related conditions
- Brings hope to patients and families around the world
Every contribution, big or small, helps us get closer to a cure. Please donate today.
CombinedBrain
COMBINEDBrain is on a mission to collect ~500 samples from it’s member organizations such as Cure GABA-A. These samples will be stored and available to researchers across the world.
Any participant diagnosed with a COMBINEDBrain Disorder such any of the 19 GABA-A Variant sub-units:
GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRG1, GABRG2, GABRG3, GABRR1, GABRR2, GABRR3, GABRE, GABRD, GABRQ, GABRP (sibling and parent controls also needed).
Participants will generate a clinical research ID (CRID) to identify their sample.
COMBINEDBrain will be collecting urine samples and blood samples (processed for plasma and a finger stick) to be stored in the CB Biorepository and available for select biomarker projects as well as other interested researchers. COMBINEDBrain will also collect several online surveys to be completed by caregivers through MATRIX.
2023 Dates
IRF2BPL Foundation, September 22nd, 9am-5pm (Home 2 Suites by Hilton, 7145 Liberty Centre Drive, Liberty Township, OH 45069)
KCNQ2 Cure Alliance Conference, September 29th, 9am-5pm September 30th, 9am-3:30pm (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611)
Rory-Belle Foundation Conference, October 1st, 9am-5pm (13550 Commerce Blvd Rogers, MN 55374)
Prader-Willi Syndrome/USP7 Foundation, October 6th, 12pm-5pm; Oct 7th, 830am-4pm (1672 Lawrence St, Denver, CO 80202)
TBRS Community, Oct 12th, 2pm-6pm; Oct 13th 9am-5pm 2023 (Morgan’s Wonderland, 5223 David Edwards Dr, San Antonio, TX 78233)
COMBINEDBrain Meeting, October 16th 2023 (Washington DC)
FAM177A1, October 29th 2023, 9am-5pm (2737 77th Ave Se Suite 101 Mercer Island, WA 98040)
KCNT1, November 4th 2023 (Los Angeles)
Cure GABA-A, November 5th 2023 (Los Angeles, CA)
POTENTIAL – Angelman Foundation, November 2023 (Miami, FL)
SYNGAP1 Research Fund, December 1st 2023 (8978 International Drive Orlando, FL, 32819)
SLC6A1 Connect, December 1st-3rd 2023 (9700 International Dr, Orlando, FL 32819)
*Dates and Times Subject to Change*
Please email monica@curegabaa.org for more details
2024 Dates
Hosting PAG(s) |
Location |
Dates/Times |
NR2F1 Foundation |
Orlando, FL |
April 4-5 2024 |
Hereditary Neuropathy Foundation |
San Diego, CA |
June 7-8 2024 |
STXBP1 Foundation |
Drexelbrook Event Center 4700 Drexelbrook Drive Drexel Hill, PA 19026 |
July 19th – 10am -5pm July 20th – 10am- 5pm July 21st – 9am-2pm |
Myhre Syndrome Foundation |
The Hub for Clinical Collaboration at CHOP 3500 Civic Center Blvd, Philadelphia, PA 19104 |
July 27th – 8am-6pm July 28th – 8am-12:30pm |
HNRNP Family Fdn / YBRP |
Hilton Garden Inn, 1800 NW Gilman Blvd, Issaquah, WA 98027 |
July 29th – 9am – 5pm July 30th – 9am – 4pm |
Project 8p Foundation |
Hyatt Regency Denver Tech Center at 7800 E Tufts Ave, Denver, CO 80237 |
Aug 1st – 8am – 4pm Aug 2nd – 8am – 4pm |
Foundation for Prader-Willi Research |
GRAND HYATT ATLANTA IN BUCKHEAD 3300 Peachtree Road NE, Atlanta, GA 30305, USA |
Sept 26th – 8am – 5pm Sept 27th – 8am – 4pm |
COMBINEDBrain |
Kansas City Marriott Country Club Plaza, 4445 Main Street Kansas City, MO 64111 |
Sept 29th – 9am – 5pm |
SLC6A1, SynGAP, Cure GABA-A |
Omni Hotel at California Plaza, 251 S. Olive Street, Los Angeles, CA 90012 |
Dec 5th – 9am – 5pm Dec 6th – 8am – 4pm |
*Dates and Times Subject to Change*
Please email monica@curegabaa.org cc: agustina@curegabaa.org for more details
2025 Dates
Hosting PAG(s) |
Dates |
Location |
Hereditary Neuropathy Foundation |
April 25-26th |
Nashville, TN |
Coalition to Cure CHD2 |
June 13-15th |
Westminster, CO |
Prader Willi Syndrome |
June 27-28th |
Phoenix, AZ |
Med13L Foundation, CTNNB1 Connect & Cure |
July 10-12th |
Boston, MA |
Koolen de Vries Syndrome Foundation |
July 17-18th |
Chicago, IL |
CSNK2A1 Foundation |
July 18-19th |
Denver, CO |
The Stiff Person Syndrome Research Foundation |
July 19-20th |
Windsor Locks, CT |
KCNQ2 Cure Alliance |
Sept/Oct TBD |
Philadelphia, PA |
SRF, Cure GABA-A Variants, SLC6A1 Connect |
Dec 4-5th |
Atlanta, GA |
*Dates and Times Subject to Change*
Please email monica@curegabaa.org cc: agustina@curegabaa.org for more details