Genetic Research into FSGS and Nephrotic Syndrome: an Update from the Pollak Lab December 3, 2017 by Kylie Karley An Update from the Pollak Lab By Andrea Knob We first checked in with the Pollak Lab and Andrea Knob—a genetic counselor and clinical research coordinator—about a year ago. Below is an update of their work, which receives funding from NephCure to study genetic causes of kidney diseases like FSGS and Nephrotic Syndrome. Patients and family members affected by FSGS and Nephrotic Syndrome are invited to participate in the Pollak Lab’s research. Please contact Andrea for more information. Andrea: As the holiday season approaches, we want to express our gratitude for the support of all of our patients and families, nephrology providers, and support networks including NephCure in the challenge to fight kidney disease. In the Pollak lab, we are working hard to identify and understand the genetic factors that may be contributing to the cause of kidney diseases such as FSGS (focal segmental glomerulosclerosis), Nephrotic Syndrome, unexplained proteinuria, and unexplained kidney failure in individuals and in families. We hope that by learning more about what causes these conditions, we can eventually help scientists discover better treatments with less side effects in the future. Researchers in the Pollak Lab Technology has been significantly improving over the years, and so has access to these technologies. We are able to look at genes and different variations of genes and study them in ways that were unimaginable decades ago. Genes (which we can think of as the “words” within DNA) are the instructions for the body to carry out its functions and give rise to traits. We look at genes related to the kidney in order to see if the instructions are what we expect or if there is variation. From there, we want to know whether a genetic variant is a normal part of the diversity from person to person or whether the genetic variant might be giving incorrect instructions for the kidney to function as it should. The Pollak Lab is looking for patients and healthy family members to participate in their ongoing study. You can participate from anywhere in the world! Here at the Pollak lab, we have identified genetic variants (mutations) that we know are associated with kidney diseases such as FSGS, Nephrotic Syndrome, and related conditions. We have done a lot of work with genes such as ACTN4, NPHS2, TRPC6, INF2, and APOL1, for example. We want to know more about these genes and how they work, but we also think that there are other genetic mutations to be discovered. Current genetic technologies allow us to study the actual genes, but we know that the stories from patients and families experiencing kidney disease is truly at the heart of the answers that we are seeking. If someone has a particular gene variant, what does that mean for that person? What are their exact symptoms? Do other people with the same gene variant have similar symptoms? What treatments have worked or have not worked? What additional factors (genetic, environmental, lifestyle) may be accounting for the differences from person to person and/or family to family? To answer those questions, we have to rely on the generous contributions of time, information, and personal stories from patients, families, and providers which helps us to understand kidney disease in new ways and helps us to develop new ideas and strategies aimed at prevention, diagnosis, and treatment. We are truly indebted to all who have participated in our research this year and in the past, for without your generosity, we would not be able to do the work we do. Andrea Knob—Genetic Counselor and Study Coordinator for Dr. Pollak’s study We also invite anyone to participate in our ongoing research, and we hope to team up with providers who care for individuals and/or families with FSGS, Nephrotic Syndrome, unexplained proteinuria, and/or kidney failure. We hope to continue our collaborative efforts and reach out to communities nationwide. We invite you to contact us at any time whether you are a patient, family member, or friend looking to learn more about our research, a previous research participant following up with updated medical, family history, and/or contact information, or a nephrology provider interested in referring a patient(s) and/or collaborating. Our study is very simple and can be completed from home. To learn more about us, you can contact us by phone at 617-667-0467, by email at aknob@bidmc.harvard.edu, or visit our website by clicking here.
Jennifer Degnan says December 4, 2017 at 4:59 pm We are curious about this program. Our daughter, Cara, is 18 yrs old and has had minimal change NS since 3 yrs old. Cara and we, her parents, had the human genome sequencing down through the genetics department at AI DiPont Hospital for children in Wilmington, DE. Would that information be of any use to the nature of this project? Please advise. Thank you!
Andrea Knob says December 14, 2017 at 8:13 pm Hi Jennifer! Thanks for your reply. Send me a message to me at aknob@bidmc.harvard.edu. Would love to hear more! Andrea (genetic counselor and research coordinator for the Pollak Lab).
Tracey says December 14, 2017 at 6:32 am I am curious how my family could help and participate in your study. My husband has had nephrotic syndrome since he was five and recently had a kidney biopsy to confirm that it was the right diagnosis of minimal change diesease. He had this biopsy because our 3 year old daughter was diagnosed with nephrotic syndrome at the age of 2.. everything we have been told is that it is just a high coincidence that they both have it. My husband has always responded well to steroids and my daughter does too but has never been able to be weened off so we are starting cytoxan to see if it will work for her.
Andrea Knob says December 14, 2017 at 8:23 pm Hi Tracey, Most cases of nephrotic syndrome are not inherited so it is very possible that your husband and daughter both have had kidney concerns by coincidence. Families share genes in common, but also environmental and lifestyle factors as well. In approx 5-10% of cases, there appears to be a stronger genetic component. In our lab, we want to know more about any possible genetic factors contributing to kidney conditions such as Nephrotic syndrome and/or FSGS in people with and without any family history. We would love to tell you more about our study. If you send me an email at aknob@bidmc.harvard.edu Id love to talk more! Thanks so much, Andrea
Krista says March 27, 2018 at 2:44 am Hello My husband was dx at age 9 with iga nephropahy and then at age 35 stage 4 kidney disease. He had a transplant and is doing well. Our middle daughter is 16 and has multiple health issues all seem to be stemming from an autoimmune issue but still unable to get a couple comprehensive dx. We now have been suggested to get dna testing and I’m wondering if you have found any correlation for iga and other autoimmune issues ? Thank you for any information or if we can offer and help to the study.
Celia Figueroa says April 21, 2018 at 3:22 pm Hello, our daughter was diagnosed with minimal change disease /NS at the age of 2. Since the age of 2 she has had 2 biopsies which indicate that she is now diagnosed with FSGS. She is now 12yo and she is still struggling with her disease. I do know that her biological father had a form of NS when he was a child; was treated and grew out of it. We pray the same for our daughter however, hers seems to be more resistant to treatment. She seems to be on different combinations of medications to keep her in remission about every 2-3 years now and the Dr. is considering Rituximab now. It’s very scary for her and for us to think of this option as it seems so much more invasive and so many side effects are possible. I am interested in sharing any of her medical history to assist with research or any kind to aid in research that would/could possibly benefit her or anyone else. Anyone with success stories or experience with Rituximab please reach out, we are interested in how it went. Thanks.
Barb says November 20, 2018 at 3:11 pm Would love to find out if I can be of use to the study. I was diagnosed with FSGS in 2015 after giving birth to my son at 28 weeks due to preclampsia. My second son is now 4 months and we found out that just like me, he has a smaller left kidney and reflux, which I was never diagnosed with but was likely the cause of many hospital stays for kidney infections when I was s toddler.