IKKβ

Scientists have discovered a gene mutation is responsible for causing psoriasis -- a chronic inflammatory skin disease that causes patients to develop red, scaly and itchy patches across their body. According to researchers, if two copies of this mutated gene (known as IKBKB) are present, patients with psoriasis may go on to develop psoriatic arthritis, leaving them with joint pain, stiffness and swelling. It's hoped the findings will lead to improved diagnosis and treatment for patients with psoriasis and psoriatic arthritis -- conditions that patients say carry stigma in the community. Scientists from The Australian National University (ANU) have discovered a gene mutation is responsible for causing psoriasis -- a chronic inflammatory skin disease that causes patients to develop red, scaly and itchy patches across their body. According to ANU researcher Dr Chelisa Cardinez, if two copies of this mutated gene (known as IKBKB) are present, patients with psoriasis may go on to develop psoriatic arthritis, leaving them with joint pain, stiffness and swelling. Thanks to the world-first discovery from ANU, scientists now know what causes the progression from a skin-only disease to a skin and joint disease. It's hoped the findings will lead to improved diagnosis and treatment for patients with psoriasis and psoriatic arthritis -- conditions that patients say carry stigma in the community. "Using a mouse model, we identified that this mutation led to an abnormal function in a group of immune cells known as regulatory T cells," Dr Cardinez, from the ANU John Curtin School of Medical Research (JCSMR), said. "These cells are normally considered gatekeepers of the immune system. However, we found that this mutation alters the function of these cells, causing them to contribute to inflammation and promote the onset of disease." Rebecca Davey is one of at least 500,000 Australians that live with psoriasis. She also happens to have psoriatic arthritis and says the stiffness and pain she feels when she gets out of bed in the morning can be extreme. "People don't understand the debilitating effects these conditions can have on the individual and in fact a whole family when someone is in constant pain, has poor sleep from pain, and feels constantly fatigued," Ms Davey said. "My psoriatic arthritis drugs have largely reduced the larger outbreaks on my skin, but you do have to consider everything you put on your skin and the fabrics you wear. As a former nurse, even the constant hand washing that was required for work would cause my skin to flare up. It's one of the reasons why I no longer work in the hospital system." Psoriasis and psoriatic arthritis are forms of autoimmune disease. These types of diseases occur when the immune system attacks healthy cells after wrongly perceiving them as a threat. According to Arthritis Australia, three out of every 10 Australians with psoriasis develop psoriatic arthritis. Although there is no cure for psoriasis, there are treatments that can help manage the condition. In October 2023, the Pharmaceutical Benefits Scheme (PBS) listed a new, subsidised drug for Australians living with severe psoriasis. Ms Davey, who is also CEO of Arthritis ACT, says it's important to break down the stigma associated with these conditions. She says psoriasis is very misunderstood in the community. "So many people are accused of having poor hygiene due to the plaques or even just minor skin lesions as they erupt. It's not the individual's fault that their skin is in the condition it's in; psoriasis is a painful, debilitating condition," she said. "I had no idea what was causing my hands to flare up all the time. Our poor GPs often don't recognise these conditions early. "In regional and rural areas there is a drastic shortage of specialists both in dermatology and rheumatology to diagnose and treat these conditions, and people can wait over a year for an appointment if their symptoms are less dramatic. "We must raise greater awareness of invisible disabilities such as those created by these conditions. A person might look ok from the outside, but in reality they are struggling on a daily basis." Dr Cardinez said: "Studies have shown that delays in psoriatic arthritis diagnosis is linked to worse clinical outcomes for patients. Therefore, earlier detection and treatment of these immune diseases is key to improving health outcomes. "By developing a better understanding of the IKBKB gene and the role it plays in promoting the onset of these diseases, it could bring us a step closer to one day finding a cure, which would offer new hope for hundreds of thousands of Australians."

WUHAN, China and NEWARK, Del., Jan. 27, 2021 /PRNewswire/ -- Wuhan Neurophth Biotechnology Ltd., a fully-integrated genetic medicines company developing AAV-delivered gene therapies for the treatment of ocular diseases, today announced the appointment of Qiutang Li, Ph.D., as Chief Scientific Officer. She will be mainly responsible for the company's global R&D, IND portfolio strategy, and the establishment of a highly-effective platform to allow for the exchange of cross-discipline information. Dr. Li has over 30 years of experience in basic and applied biomedical research. She joins Neurophth from the University of Louisville School of Medicine, where she was a professor in the department of Ophthalmology and Visual Sciences for over 14 years. Her research focuses on the role of Hippo/YAP1 signaling pathway on different stages of ocular development, NF-kB/IKK2 inhibition of neovascularization, and gene discovery screening for eye diseases using mouse models. Throughout her career, Dr. Li has contributed to more than 45 publications in journals including Investigative Ophthalmology & Visual Science (IOVS), Proceedings of the National Academy of Sciences of the United States of America (PNAS), Nature Review Immunology, and Science. She is currently the editorial board member of Scientific Reports and Source Journal of Ophthalmology. Dr. Li holds a Ph.D. in cell biology from the Washington University in St. Louis and obtained both her Bachelor's and Master of Science degrees in Genetics from Beijing University. "We are thrilled to have Dr. Li on our team, bringing over 3 decades of her diverse experience in basic and applied biomedical research," said Bin Li, M.D., Ph.D., Founder and Chairman of the Board of Neurophth. "Given her prior experience at Baylor College of Medicine mentored by Dr. Savio Woo, an internationally recognized expert in molecular human genetics and gene therapy, and Dr. Mark Kay, a leading researcher in the fields of AAV gene therapy and the current Head of Division of Human Gene Therapy at the Stanford University School of Medicine, Dr. Li has extensive knowledge in gene therapy for hepatic deficiencies, ocular diseases, and viral vector reconstruction." "We are excited to have Qiutang join and expand our exceptional research and development team. She brings a wealth of experience in gene therapies for ocular diseases to Neurophth," said Alvin Luk, Ph.D., M.B.A., C.C.R.A., Chief Executive Officer at Neurophth. "Her deep understanding of viral vector design and animal models in the inhibition of neovascularization for ocular diseases, such as age-related macular degeneration and diabetic retinopathy, further bolsters our ability to deliver on our growing pipeline of clinical programs and platform capabilities." "It has been captivating to watch the scale, scope, and speed with which Neurophth has successfully transformed itself into an innovative and diversified gene therapy company," said Dr. Li. "I look forward to being a part of Neurophth team as the company executes the next stage of its growth strategy and expands its pipeline of gene therapy candidates focused on ocular and non-ocular diseases, building a brighter future for patients worldwide." About Neurophth Neurophth is China's first gene therapy company in ophthalmic diseases. Headquartered in Wuhan with subsidiaries in Shanghai, Suzhou, and the U.S., Neurophth, a fully integrated company, is striving to discover and develop gene therapies for patients suffering from blindness and other eye diseases globally. Our AAV validated platform which has been published in Nature - Scientific Reports, Ophthalmology, and EBioMedicine, successfully delivered proof-of-concept data with investigational gene therapies in the retina. Our most advanced investigational candidate, NR082 (rAAV2-ND4), in development for the treatment of ND4-mutated LHON, has received orphan drug designations in the U.S. The pipeline also includes ND1-mutated LHON, autosomal dominant optic atrophy, glaucoma, wAMD/DME, and other preclinical candidates. Neurophth has initiated the scaling up in-house process in single-use manufacturing technologies to support future commercial demand at the Suzhou facility. To learn more about us and our growing pipeline, visit .