Claritas Genomics Launches Convenient Genetic Testing Option For Nephrotic Syndrome Patients September 24, 2014 by Lauren Eva On September 11, 2014, Claritas Genomics in Cambridge, MA, announced the creation of its newest genetic screening panel, which tests gene variants commonly associated with steroid resistant Nephrotic Syndrome in children. The test uses next-generation gene sequencing techniques to detect mutations in the 28 most common gene variants associated with Nephrotic Syndrome, making it the largest genetic panel for any pediatric kidney disease. Typical candidates for this genetic test include: 1) pediatric patients less than 12 months old; 2) pediatric patients that do not respond to steroid therapy; 3) patients with a family history of Nephrotic Syndrome; 4) pediatric patients with features of FSGS; and 5) patients who have congenital malformations associated with Nephrotic Syndrome. In a time where healthcare is becoming more patient centric, as opposed to disease centric, genetic screening may lead to more ‘personalized’ treatment based on the characteristics of a patient’s disease profile. Information about genetic underpinnings of Nephrotic Syndrome may inform what drugs are used for initial treatment, provide improved information for patients and families about the likely clinical course of disease, could improve the selection of appropriate transplant donors and provide opportunities for genetic counseling for other family members. “This is the start of an exciting new era in understanding genetic factors that play a role in the onset and progression of at least some cases of Nephrotic Syndrome. NephCure Kidney International is proud to have supported the research at Boston Children’s Hospital that led to the development of this commercial application,” says Marilyn Hailperin, National Director of Research for NephCure. “Clear guidelines for when to seek genetic testing and the impact on patient treatment still need to be developed, but the availability of tests such as ClariFocus will help to advance scientific knowledge that will lead to better therapies.” Patients and their family members should talk with their nephrologist about this new test. It is only available with a physician order at this time.
NephCure in the News September 22, 2014 by Lauren Eva PatientCrossroads Launches New Patient Registries The new rare-disease registries arose from the NIH Global Rare Diseases Registry (GRDR) pilot program San Mateo, Calif. (PRWEB) September 04, 2014 PatientCrossroads announces the launch of five new patient registries on behalf of leading rare disease advocacy organizations. The new registries are sponsored by organizations originally selected by the NIH to participate in its Global Rare Diseases Registry and Repository (GRDR) pilot program. Five New Patient Registries Launch Through the PatientCrossroads Program include: The Barth Syndrome Foundation, Foundation for Sarcoidosis Research, Lymphangiomatosis and Gorhams Disease Alliance, NephCure Kidney Network and PSC (Primary Sclerosing Cholangitis) Partners Seeking a Cure registries have been launched using the PatientCrossroads registry platform. Read more>> ‘A rare young lady’: Despite illness, girl handles life like a champ By Isaac Groves / Times-News Published: Wednesday, September 10, 2014 at 05:31 PM. GRAHAM — At age 6, Brandi Chrisp is a lively, sweet, smart, talkative, bold girl without a shy bone in her body and, honestly, one of the cutest kids you will ever meet. “I really like to play and sing,” she said. “And my favorite thing is going out to eat with my family.” She has also been hospitalized several times in the past year with a rare kidney problem, and she and her family are raising money to fund research to help people like her. “I have nephrotic syndrome,” she said. Read more>> Iowa-ISU backers running for bragging rights and charity Posted Online: Sept. 10, 2014, 9:39 pm Roughly 100 participants – most as part of relay teams – will run a 125-mile rout from Ames to Iowa City beginning today, September 10, and ending on tomorrow. Along with the bragging rights aspect, the event is also a fundraiser that benefits NephCure Kidney International. Read more>> ‘We Have a Long Road Ahead of Us’ 10-Year-Old Union Boy Lives With Rare Kidney Disease Posted: Wednesday, September 17, 2014 6:32 pm By Karen Cernich, Feature Writer Sitting on the living room floor of his Union home building a toy car out of Legos, Bradley Scott looks like an average 10-year-old, but to doctors treating him for the rare kidney disease FSGS, he’s something of a medical mystery. “He’s been rewriting the medical books since he was a baby,” Bradley’s mom, Amanda Scott, remarked. “I think every specialist that we’ve seen says he’s rewriting the medical books.” Read more>> Northern VA Home Improvement Company Supports Fairfax County Public Schools PRWeb | September 20, 2014 Moss Building and Design, a family-owned remodeling company in Fairfax County, is always looking for ways to give back to the community they work and live in. Giving back to the local community is an important goal of the remodeling company whose efforts include school sponsorships as one of the many ways they give back. Moss’ community involvement also includes sponsoring local golf tournaments, supporting the local NephCure foundation, building the haunted house structure for Bradley Farm Haunted House, and even rebuilding the roof of the dug-outs at Chantilly Park for Chantilly Little League. Read more>>
Rival Game Relay Raises Money and Awareness for NephCure September 19, 2014 by Lauren Eva RGR Organizers Kate and Mike Maurer Mike and Kate Maurer are runners who came up with an inspired idea and organized a great event for a great cause, but they’re more than that: they’re parents to a wonderful little boy named Alex. Five-year-old Alex is active and energetic, he loves climbing and running…when he’s feeling well enough to play like other five year olds. Alex has Nephrotic Syndrome, a condition neither of his parents had even heard of before he was diagnosed. Ultra-runner Troy Thompson Mike and Kate know the trials of managing and living with NS, and like tens of thousands of others rely on breakthroughs in medical research to find better treatments and a cure for their son. They decided they needed to do something. As avid runners having completed numerous races of distances ranging from 5k to marathon, and team relays of 212 miles, they decided to blend their love of running with their desire to fundraise and created a 124-mile race called the Rival Game Relay. Capitalizing on a centuries-old Iowa rival between the University of Iowa Hawkeyes and the Iowa State Cyclones, they timed their race to coincide with the annual Iowa/ISU football game. Eleven teams registered to complete the course beginning in Ames, IA, Cyclone territory, and finishing just outside of Iowa City, IA, land of the Hawkeyes. Several teams were comprised of eight or more runners who ran various legs, “ultra” teams contained 5 runners or less, and ultra runner Troy Thompson completed 102 of the 124 mile course on his own! NephCure Kidney International thanks the Maurers and all of the runners who participated in the inaugural Rival Game Relay event. The 2014 RGR trophy went to the ISU Cyclones NephCure and the RGR team up to fight kidney disease! Post-race festivities under the RGR tent
NephCure Kidney International Featured on HealthPopuli.com September 9, 2014 by Lauren Eva Many thanks to Health Economist and Influencer Jane Sarasohn-Kahn for her profile of NephCure Kidney International on her wildly popular blog, Health Populi. We had a great time discussing the NKI mission, Patient Powered Research Networks, ringing the opening bell of the NYSE, and the online future of NephCure. An excerpt from the opening paragraph appears below. We encourage you to read, comment, and share the entire article here. Thanks to everyone for your support! The burden of chronic kidney disease (CKD) is growing, with one in 10 U.S. adults having some level of CKD. End-stage renal disease (ESRD) is the last phase of CKD, when dialysis or an organ transplant are required. Nephrotic syndrome is one of the most common forms of CKD, and focal segmental glomerulosclerosis — FSGS — is the fastest-growing cause of nephrotic syndrome in children, and the second-leading cause of kidney failure in children.
NephCure Silent Auction and Scavenger Hunt – Herndon, VA September 5, 2014 by wpengine Come out and join the fun in Herndon, Virginia with this exciting fundraiser! Local volunteer and lead fundraiser Nikki Buermeyer is holding her fifth annual event to support NephCure Kidney International. WHEN: Saturday, October 11, 2014 from 2-5pm WHERE: Frying Pan Park Visitor’s Center at 2709 West Ox Road, Herndon, VA 20171 Join us for our fifth annual event benefiting NephCure Kidney International! This year we are excited to bring you even more fun ways to raise support for this important cause. Silent auction Video scavenger hunt Live band Wine, beer and baked goods Free T-shirts to anyone that donates $50! Contact Nikki Buermeyer with questions, suggestions, or if you would like to donate to the silent auction or volunteer. Email nbuermeyer@teamnephcure.org Phone: 703-476-8203 Thank You to our Sponsors!