ASO Genetic Therapy Tested in DRPLA - Kuri's Story скачать в хорошем качестве

ASO Genetic Therapy Tested in DRPLA - Kuri's Story

Hawaii patient with Rare Genetic Syndrome Becomes 2nd Patient in the World Selected to receive Groundbreaking ASO (Antisense Oligonucleotide) Technology using Modified DNA to Target Defective Gene . Honolulu, Hawaii USA June 2024. Kuri grew up in Hawaii just like any normal child until she was around 8 years old when she began to lose her balance and motor skills. Mom also noticed that she is not keeping up with schoolwork and noted decline in her cognitive skills and ability. Soon, the nightmares of frequent seizures set in. Genetic testing showed that Kuri suffered from a rare genetic disorder known as Dentatorubral-pallidoluysian atrophy (DRPLA). https://curedrpla.org/en/ DRPLA is caused by a mutation in the ATN1 gene which provides instructions for making a protein called atrophin-1. DRPLA is a rare genetic disorder most common in the Japanese population, estimated incidence of 2 to 7 per million. There is currently no cure or even hope for DRPLA until 2024 February when a first patient in New York was treated with Groundbreaking ASO Technology. Kuri recently became the second DRPLA patient in the world accepted to receive this advance ASO technology therapy generously provided by n-lorem Foundation. https://www.nlorem.org/ n-Lorem is a “non-profit committed to discovering and providing personalized experimental treatments, for free, for life, to the most isolated and desperate of patients. Most of these patients progress and die without ever achieving a diagnosis. Those that receive a diagnosis learn they have a unique mutation and, in the very next breath, learn that there is no treatment, and it is unlikely that there will be. This is where n-Lorem comes in. We do the impossible. We mount a drug discovery program to develop a drug that is targeted for that single patient.” Hawaii’s physicians and researchers at Center for Rare Neurological Diseases at Hawaii Pacific Neuroscience Clinical Research Center https://hawaiineuroscience.com/center... will be volunteering their time, effort to provide the needed research care & procedures for Kuri but we cannot do it alone and Kuri needs your help. Please support Kuri by making a donation to Hawaii Pacific Neuroscience Foundation. https://4hpnf.com/donate/ For progress and to follow Kuri’s journey, Cure Disease Kuri Channel    / @iwantsavemydaughter   Questions or Media: Info@HawaiiNeuroscience.com More info: https://hawaiineuroscience.com/center...