Lymphedema, Hereditary, II

Using a new computational approach they developed to analyze large genetic datasets from rare disease cohorts, researchers at the Icahn School of Medicine at Mount Sinai and colleagues have discovered previously unknown genetic causes of three rare conditions: primary lymphedema (characterized by tissue swelling), thoracic aortic aneurysm disease, and congenital deafness. Using a new computational approach they developed to analyze large genetic datasets from rare disease cohorts, researchers at the Icahn School of Medicine at Mount Sinai and colleagues have discovered previously unknown genetic causes of three rare conditions: primary lymphedema (characterized by tissue swelling), thoracic aortic aneurysm disease, and congenital deafness. The work was done in collaboration with colleagues at the University of Bristol, UK; KU Leuven, Belgium; the University of Tokyo; the University of Maryland; Imperial College London, and others from around the world. An enhanced understanding of the functions of the genes involved in these and other disorders could pave the way for the development of treatments. The findings were published in the March 16online issue of Nature Medicine. Rare diseases affect approximately 1 in 20 people, but only a minority of patients receive a genetic diagnosis. Fewer than half of the 10,000 recorded rare diseases have a known genetic cause. Genome sequencing of large cohorts of rare disease patients provides a route toward discovering the genetic causes that remain unknown. However, large genetic datasets are challenging to work with, slowing down research significantly, say the investigators. "While rare diseases are individually rare, collectively they are quite common. It is important for our understanding of human biology and for the development of diagnostics and therapeutics that the remaining causes are found," said senior study author Ernest Turro, PhD, Associate Professor of Genetics and Genomics Sciences at Icahn Mount Sinai. "Many people with a rare disease struggle for many years to obtain a genetic diagnosis. By developing and applying statistical methods and computational approaches to find new causes of rare diseases, we hope to expand knowledge of the underlying causes of these diseases, hasten the time to diagnosis for patients, and pave the way for the development of treatments." The investigators studied a collection of 269 rare disease classes using data from 77,539 participants in the 100,000 Genomes Project, one of the largest datasets of phenotyped and whole-genome-sequenced rare disease patients. The researchers identified 260 associations between genes and rare disease classes, including 19 associations previously absent from the literature. Through an international academic collaboration, the authors validated the three most plausible novel associations by identifying additional cases in other countries and through experimental and bioinformatic approaches. "We hope that our computational framework will help accelerate the discovery of the remaining unknown etiologies of rare diseases across the board. For now, we expect that a genetic diagnosis will be attainable for certain families with previously unexplained primary lymphedema, thoracic aortic aneurysm disease, and deafness," said Daniel Greene, PhD, a postdoctoral fellow at Icahn Mount Sinai and lead author of the study. "We also plan to apply our methods in novel ways and in other datasets, with the aim of continuing to unravel the genetic causes of rare diseases."

OAKLAND, Calif., March 13, 2023 /PRNewswire/ -- Koya Medical, a healthcare company on a mission to transform venous and lymphatic care through innovative, people-centric solutions, today announced their selection for a poster presentation of the NILE Trial at the upcoming Academy of Managed Care Pharmacy (AMCP) conference being held March 21-24, 2023, in San Antonio, Texas. The poster, "Final-analysis (NILE) - A randomized control cross-over clinical study comparing a novel wearable compression technology (non-pneumatic compression device, NPCD) to pneumatic compression device (advanced pneumatic compression device, APCD) in the treatment of lymphedema", received gold ribbon status after a rigorous 2-tier peer-review process by independent reviewers and subsequent review by a Journal of Managed Care and Specialty Pharmacy editor. Summary of Key Results: The Dayspring device was found to be more effective than an APCD. Participants experienced significantly greater mean reduction in edema (swelling caused by excess fluid trapped in the body's tissues) volume (64.6% vs. 27.7%; p<0.05) with the Dayspring device versus an APCD. Significantly greater adherence (95.6% vs. 49.8%), and greater satisfaction (90% vs. 14%) with the Dayspring device versus an APCD. About Lymphedema & Venous Disease An estimated 20 million Americans live with lymphedema, a progressive, incurable condition where a buildup of protein rich fluid causes painful swelling in the arm, leg, and/or other regions of the body. For most, lymphedema requires lifelong maintenance and various levels of therapy to control swelling and pain. Lymphedema can result from a variety of factors, including cancer, infection, chronic venous disease, and surgery. About the Dayspring® System The Dayspring compression system, available for upper and lower extremity care, combines static compression, active compression, and joint contractions for a level of clinical comprehensiveness and patient mobility unavailable with traditional pneumatic compression devices. The Dayspring system includes a low-profile active garment made of soft, breathable mesh using proprietary Flexframe® technology; a rechargeable, hand-held controller that can be worn on a lanyard; and a mobile app that allows users or their clinicians to track therapy and customize treatment options. Dayspring is FDA 510(k) cleared to treat lymphedema, primary lymphedema, post mastectomy edema, edema following trauma and sports injuries, post immobilization edema, venous insufficiency, venous stasis ulcers, or arterial and diabetic leg ulcers, lipedema and phlebolymphedema and other similar conditions that impact lymphatic flow in the upper and lower extremities. Dayspring is also indicated to reduce wound healing time and treatment and assist in healing stasis dermatitis. About Koya Medical Koya Medical, a privately held company founded in 2018, is a transformative healthcare company developing breakthrough treatments for venous diseases and lymphedema to enable joint contractions, patient mobility, and personalized care that is unavailable with traditional compression therapy. For company or product inquiry, contact [email protected]. Follow us on LinkedIn at . SOURCE Koya Medical

Dr. Maldonado joins Koya as Chief Medical Officer and member of the Medical Advisory Board OAKLAND, Calif., Dec. 27, 2022 /PRNewswire/ -- Koya Medical, a healthcare company on a mission to transform lymphatic and venous care through a comprehensive suite of innovative, people-centric platforms, today announced the addition of Dr. Thomas Maldonado as Chief Medical Officer. The addition of Dr. Maldonado further strengthens Koya Medical's clinical advisory board, led by Stanley Rockson, M.D., cardiologist and professor in the Falk Cardiovascular Research Center at Stanford University School of Medicine. Continue Reading Dr. Thomas Maldonado Thomas Maldonado, M.D. has been one of New York City's top vascular surgeons in one of the nation's premier academic medical centers for over two decades. He is regularly featured as Top Doctor by Castle Connolly and has served as president of numerous national and regional vascular societies. Dr. Maldonado, who is devoted to unrivaled patient care and research, states that he is "honored to serve as Chief Medical Officer for Koya Medical and looks forward to continuing to advance the Dayspring to help even more people with lymphedema and venous diseases maintain mobility while receiving effective compression treatment." Dr. Maldonado, Professor of Surgery, is a prolific researcher and academician with over 150 publications in the field of vascular surgery and serves as editor-in-chief for the journal, Vascular and Endovascular Surgery. Additionally, Dr. Maldonado is an innovator in minimally invasive endovascular therapy. He is nationally and internationally recognized for his surgical skill as well as his commitment to education and advancing patient care. Dayspring is the first and only non-pneumatic active dynamic compression treatment designed for patient mobility and cleared by the U.S. Food and Drug Administration (FDA) to treat lymphedema and chronic venous conditions. About Lymphedema An estimated 20 million Americans live with lymphedema, a progressive, incurable condition where a buildup of protein rich fluid causes painful swelling in the arm, leg, and/or other regions of the body. For most, lymphedema requires lifelong maintenance and various levels of therapy to control swelling and pain. Lymphedema is commonly caused by cancer—such as breast cancer, uterine cancer, prostate cancer, vulvar cancer, ovarian cancer, lymphoma, melanoma and cancers of the head and neck—and its treatment due to damage of the lymph system from the tumor itself, radiation treatment or the surgical impairment of lymph nodes.1 About the Dayspring® System The Dayspring system is the first wearable and mobility-enabled active compression system designed with real life in mind. It is the first compression treatment option designed to enable movement, mobility, and personalized care that is unavailable with existing traditional pneumatic compression. The Dayspring system includes a low-profile active garment made of soft, breathable mesh using Koya's proprietary Flexframe® technology; a smart, rechargeable, hand-held controller that can be worn on a lanyard; and a mobile app that allows users or their clinicians to track therapy and customize treatment options. Dayspring is FDA 510(k) cleared to treat lymphedema, primary lymphedema, post mastectomy edema, edema following trauma and sports injuries, post immobilization edema, venous insufficiency, venous stasis ulcers, or arterial and diabetic leg ulcers, lipedema and phlebolymphedema and other similar conditions that impact lymphatic flow in the upper and lower extremities. Dayspring is also indicated to reduce wound healing time and treatment and assist in healing stasis dermatitis. About Koya Medical Koya Medical is a transformative healthcare company developing breakthrough treatments for lymphedema and venous diseases to increase movement, mobility, and personalized care that is unavailable with traditional compression therapy. The privately held company was founded in 2018 with the mission to transform lymphatic and vein care through innovative patient-centric platforms. For company or product inquiry, contact [email protected]. Follow us on LinkedIn at . Reference: 1. What is lymphedema? American Cancer Society. . Accessed September 26, 2022. SOURCE Koya Medical