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Peer Support
Reach out if you’d like us to connect you with other patients with genetic kidney disease.
Patient Testimonies
“For as long as I can remember, I’ve wanted to know the underlying cause of my genetic disease. Over the years there were many unsuccessful attempts. This disease had a profound impact on three generations in my family, and I knew we had to change the course for our future generations. The day I found out the exact genetic cause, I was so overwhelmed with emotions of gratitude and relief. I felt like my grandmother, whom we lost to this disease, was watching from above rejoicing in that victorious moment.”
– Angelica
“I will never forget that phone call two years ago when my family and I finally learned that the genetic mutation that plagued us for generations had a name – MUC1. You might think that was a sad day, but it was the opposite. We finally knew what we were dealing with. Every single family member who wanted to could now get tested. Depending on the results, we could be proactive about their disease (and possibly benefit from targeted treatments), or we could consider being kidney donors for other family members. So, with that answer came knowledge, opportunity and indescribable hope.”
“Finding out the genetic cause of my family’s kidney disease gave me a lot of relief and even more hope. I found out that there are medications being tested to treat our disease and if my little ones inherited this gene there’s a good chance they may not have to deal with kidney disease down the road.”.
– Alexandra
Select Research
The Clinical Utility of Genetic Testing in the Diagnosis and Management of Adults with Chronic Kidney Disease
Neera K Dahl et al., The Clinical Utility of Genetic Testing in the Diagnosis and Management of Adults
with Chronic Kidney Disease J Am Soc Nephrol. 2023 Dec 1;34(12):2039-2050. doi:
10.1681/ASN.0000000000000249. Epub 2023 Oct 5. PMID: 37794564 DOI:
10.1681/ASN.0000000000000249
Initial experience from a renal genetics clinic demonstrates a distinct role in patient management
Thomas, C.P., Freese, M.E., Ounda, A. et al. Initial experience from a renal genetics clinic demonstrates a distinct role in patient management. Genet Med 22, 1025–1035 (2020).
Whole-exome sequencing in adults with chronic kidney disease: a pilot study
Lata S, Marasa M, Li Y, et al. Whole-exome sequencing in adults with chronic kidney disease: a pilot
study. Ann Intern Med. 2018;168(2):100–109. doi: 10.7326/M17-1319
Monogenic causes of chronic kidney disease in adults
Connaughton DM, Kennedy C, Shril S, et al. Monogenic causes of chronic kidney disease in adults. Kidney
Int. 2019;95(4):914–928. doi: 10.1016/j.kint.2018.10.031
Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease.
Ottlewski I, Munch J, Wagner T, et al. Value of renal gene panel diagnostics in adults waiting for kidney
transplantation due to undetermined end-stage renal disease. Kidney Int. 2019;96(1):222–230. doi:
10.1016/j.kint.2019.01.038
Clinical impact of genomic testing in patients with suspected monogenic kidney disease
Jayasinghe K, Stark Z, Kerr PG, et al. Clinical impact of genomic testing in patients with suspected
monogenic kidney disease. Genet Med. 2021;23(1):183–191. doi: 10.1038/s41436-020-00963-4
Genetic etiologies for chronic kidney disease revealed through next-generation renal gene panel
Bleyer AJ, Westemeyer M, Xie J, et al. Genetic etiologies for chronic kidney disease revealed through
next-generation renal gene panel. Am J Nephrol. 2022;53(4):297–306. doi: 10.1159/000522226
Emerging Treatments
Gene Therapy
Gene therapy is a technique that targets genetic defects that causes disease and modifies these changes in the hope of treating or curing the disease. Gene therapies can work by either replacing a disease-causing gene with a healthy copy of the gene or inactivating a disease-causing gene that is not functioning properly.
Gene therapy holds great promise in kidney disease, because once we understand the underlying genetic basis of disease, we can then potentially target the specific gene defect responsible for disease. Gene therapy is still in its infancy. Genetic studies in mice have revealed the potential of gene therapy for kidney disease however delivery of treatment directly to the kidney is one of the main barriers we need to overcome.
Genetic Non-Discrimination Act
Genetic Non-Discriminations Act
Many people are worried about discrimination based on their genetic test results. The Genetic Non-discrimination Act (GNA) passed in 2017 makes it illegal for third parties, such as employers and insurance companies, to ask for your genetic test results. It is illegal to collect, use or disclose your genetic test results without your written consent. It is illegal for a third party to collect your genetic test results from another source, e.g., from your doctor or social media, without your written consent. If they somehow acquire those results, they are prohibited from using or disclosing them without your written consent. The law makes any such actions criminal, punishable by severe penalties.
Insurers typically ask about family medical history. Family medical history is not protected by the Act. If a close family member applied for insurance, they may need to report your medical condition, but would not be asked to provide your genetic test results.