Cystinosis

Applications for the independently assessed, expert-led Research Grant Initiative, Find For Rare, are open from today, with experts calling for innovative research to broaden the level of understanding into three lysosomal storage disorders and, ultimately, improve patient care and management. Researchers can apply for grants up to €50,000 – the research grants are designed to support original research projects that aim to advance knowledge in the field of: Fabry disease, alpha-mannosidosis, and cystinosis. All applications will be independently reviewed and assessed by a Steering Committee of leading experts in the lysosomal storage disorders field, who have been identified, contracted and funded by Chiesi, with the successful applicants announced in Q1 2025. PARMA, Italy, Sept. 9, 2024 /PRNewswire/ -- Chiesi Global Rare Diseases, a business unit of the Chiesi Group established to deliver innovative therapies and solutions for people living with rare diseases, has today announced a new Research Grant Initiative, Find For Rare. Researchers are invited to apply for grants up to €50,000 to support their research into lysosomal storage disorders (LSDs). LSDs are inborn errors of metabolism, rare genetic disorders characterized by defective functioning of lysosomes.1 Whilst the disorders can be rare individually, their prevalence is significant at a global level with an estimated 1 in 8000 people diagnosed.1 To address current gaps in understanding, Chiesi Global Rare Diseases is organizing and funding the new call for research into three LSDs – Fabry disease, alpha-mannosidosis, and cystinosis. The initiative's ambition is to provide a platform for innovative research into improving the understanding of the factors affecting the diseases as well as patient-tailored clinical management. All submitted research proposals will be evaluated by the Find For Rare Steering Committee, an independent scientific board of 10 leading experts in the field of LSDs, chaired by three of the experts, including Professor Christoph Wanner. "Find For Rare is calling for all principal investigators and scientists with an interest in lysosomal storage disorders to apply for this fantastic research opportunity," said Professor Christoph Wanner, a Chair of the Find For Rare Steering Committee and Professor of Medicine and Chief of the Division of Nephrology and Hypertension at the University Hospital of Würzburg, Germany. "Whilst we have expanded our knowledge into LSDs in the last decade, we still need to generate greater understanding into the factors affecting the disorders from pathogenesis to progression." "Find For Rare represents an opportunity to discover new thinking and ambition to meet our ultimate goal of improved patient care. The Steering Committee is eagerly awaiting the opportunity to review new ideas from across the globe and hopefully identify excellent candidates to receive the grants." Applications will be evaluated by the independent Steering Committee according to defined assessment criteria: strength of the proposed research project, innovation and novelty, relevance and impact, and potential for success. Depending on the number and quality of applications, based on the review by the Steering Committee, the total number of grants and total amount per project awarded may vary. However, the resources set aside by Chiesi Global Rare Diseases for this initiative amount to a total of €150,000, and researchers can apply for grants up to €50,000 per project. Although Chiesi Global Rare Diseases are organizing and funding the Research Grant Initiative, Chiesi will not in any way influence the application, evaluation, nor grant selection process. Proposals are welcome from all global regions other than the Americas. "Find For Rare is an important platform for the generation of new ideas and identification of future clinical leaders in the rare disease landscape. There is a societal obligation to address issues impacting the estimated 400 million living with a rare disease," said Enrico Piccinini, Head of Europe & International, Chiesi Global Rare Diseases. "Similar to all of our activities, the inspiration behind this initiative is the rare disease community. We pride ourselves on listening closely to their needs and delivering what will truly benefit patients – our real hope is this year's Find For Rare initiative will provide future solutions to today's challenging rare conditions." Further information regarding the initiative and the application process can be found at . The application process is simple and at no cost to the researcher. The application deadline is 31 October 2024, and the grants will be awarded in Q1 2025. About Find For Rare The Find For Rare Research Grant Initiative has been designed to support original research projects that advance knowledge in the fields of Fabry disease, alpha-mannosidosis, and cystinosis. The categories of research eligible for funding are projects aimed at improving understanding of the factors affecting diseases, from pathogenesis to progression, and studies of patient tailored clinical management. Research grants will be provided to organizations operating in the health or scientific research sector. Proposals are welcome from all global regions other than the Americas, with application documents required to be in English. For more information and to apply, visit . The application process is simple and free of charge. Simply complete the application form on the website and submit it with your CV and cover letter to [email protected]. The application deadline is 31 October 2024, and the grants will be awarded in Q1 2025. About lysosomal storage disorders LSDs are inborn errors of metabolism that are characterized by an abnormal build-up of substances in the body's cells as a result of enzyme deficiencies.1 The build-up of these substances can affect different parts of the body, including the skeleton, central nervous system (brain), lungs, heart, and eyes. Whilst there has been progress in clinical knowledge, more research in LSDs can be beneficial.1 About Chiesi Global Rare Diseases Chiesi Global Rare Diseases is a business unit of the Chiesi Group, established to deliver innovative therapies and solutions for people living with rare diseases. As a family business, Chiesi Group strives to create a world where it is common to have a therapy for all diseases and acts as a force for good, for society and the planet. The goal of the Global Rare Diseases unit is to ensure equal access to therapy so as many people as possible can experience their most fulfilling life. The unit collaborates with the rare disease community around the globe to bring a voice to underserved people in the healthcare system. About Chiesi Group Chiesi is a research-oriented, international biopharmaceutical group that develops and markets innovative therapeutic solutions in respiratory health, rare diseases, and specialty care. The company's mission is to improve people's quality of life and act responsibly towards both the community and the environment. By changing its legal status to a Benefit Corporation in Italy, the US, and France, Chiesi's commitment to create shared value for society as a whole is legally binding and central to company-wide decision-making. As a certified B Corp since 2019, we're part of a global community of businesses that meet high standards of social and environmental impact. The company aims to reach Net-Zero greenhouse gases (GHG) emissions by 2035. With over 85 years of experience, Chiesi is headquartered in Parma (Italy), with 31 affiliates worldwide, and counts more than 7,000 employees. The Group's research and development centre in Parma works alongside 6 other important R&D hubs in France, the US, Canada, China, the UK, and Sweden. Media Contact Chiara Travagin Rare Communication Manager, Chiesi Global Rare Diseases Tel: +39 348 8818985 Email: [email protected] Nathan McGlone Associate Director and Media Lead, Aurora Healthcare Communications Tel: +44 7850 775 669 Email: [email protected] References 1 NCBI. Lysosomal Storage Disease. Available at: (LSDs)%20are,to%20great%20morbidity%20and%20mortality. UK-CHI-2400703 | September 2024 Logo -

NEW YORK, July 22, 2024 /PRNewswire/ -- American Skin Association has announced the names of the three Investigative Scientist Awards. Andrew Ji, MD of Icahn School of Medicine at Mount Sinai was awarded the ASA Sanofi Investigative Scientist Award in Atopic Dermatitis. Christoph T. Ellebrecht, MD of University of Pennsylvania was awarded the ASA Bristol Myers Squibb Investigative Scientist Award in Psoriasis & Related Biology. Nicholas Gulati, MD, PhD of Icahn School of Medicine at Mount Sinai was awarded the ASA Sun Pharma Investigative Scientist Award. Other sought-after grants include Research Scholar Awards. ASA has announced four award recipients in this category. Kingsley Essien, PhD of the University of Massachusetts Chan Medical School was awarded the ASA Calder Research Scholar Award in Vitiligo/Pigment Cell Disorders. Patrick M. Brunner, MD, MSc, Helen He, MD of Icahn School of Medicine at Mount Sinai was awarded the ASA Incyte Research Scholar Award in Vitiligo/Pigment Cell Disorders and the ASA Research Scholar Award in Atopic Dermatitis, respectively. Christine C. Yokoyama, MD, PhD of Washington University in St. Louis was awarded the ASA Janssen Research Scholar Award in Psoriasis & Related Biology. This funding aims to support emerging leaders in dermatology in hopes of finding a cure. In addition, six other research grants and one medical student grant—made possible through the generosity of individuals, foundations, and corporations—were also announced. For thirty-seven years, ASA and its affiliates have funded over $50 million in grants that have advanced its vital mission to serve the more than 100 million Americans afflicted with skin disorders. ASA's primary goal is to enhance treatments and continue working towards cures for melanoma, vitiligo, psoriasis, atopic dermatitis, and other skin diseases. "These grants are vital for advancing dermatological research and supporting ASA's mission of defeating skin cancers such as melanoma," said ASA Chairman, Howard P. Milstein. "Despite being our largest and most exposed organ, the skin is one of the least funded areas in medical research. ASA's contributions will increase the likelihood of discovering a long-awaited cure and offer hope to millions affected by skin cancer and other skin diseases." ASA's grant program is administered by its Medical Advisory Committee (MAC), comprised of leading scientists and physicians who volunteer their time to oversee the annual grant process. Through their leadership, ASA's grant program has supported the work of over 300 investigators, ranging from talented researchers in the early phases of their careers to recognized leaders in the field of dermatology. "ASA's Medical Advisory Committee is thrilled to announce the 2024 awards," said ASA President and MAC Co-Chair, Dr. David A. Norris. "This year's awardees showcase the increasing impact of research in basic, translational, and clinical dermatology. Never before have advances in basic research so rapidly translated into new treatment approaches. Thanks to crucial funding from the ASA, new treatments for vitiligo, psoriasis, atopic dermatitis, melanoma, and other skin cancers are on the horizon." ASA provides significant research awards to established investigators and medical students studying melanoma, non-melanoma skin cancer, and other skin diseases. Through these grants, ASA has promoted the early careers of many gifted young investigators and has had a profound influence both on dermatology research and clinical care of dermatologic disease. Over the years, ASA-funded researchers have had an extensive impact on the understanding of melanoma by improving our insight into the diagnosis, treatment, and prognosis. With an exclusive focus on skin disease research, ASA has helped open new frontiers in skin science by producing results that will change how we understand and treat these diseases. The following are the recipients of the 2024 Investigative Scientist Awards, Research Scholar Awards, Research Grants, and Medical Student Grant: 2024 ASA Sanofi Investigative Scientist Award in Atopic Dermatitis Andrew Ji, MD Icahn School of Medicine at Mount Sinai Project Title: Assessing the Role of Fibroblast and Dendritic Cell Interactions in Atopic Dermatitis 2024 ASA Bristol Myers Squibb Investigative Scientist Award in Psoriasis & Related Biology Christoph T. Ellebrecht, MD University of Pennsylvania Project Title: In vivo identification of therapeutic targets for tissue-resident T cells in psoriasis 2024 ASA Sun Pharma Investigative Scientist Award Nicholas Gulati, MD, PhD Icahn School of Medicine at Mount Sinai Project Title: Assessing mechanisms underlying stable vs progressing lesions in vitiligo 2024 ASA Calder Research Scholar Award in Vitiligo/Pigment Cell Disorders Kingsley Essien, PhD University of Massachusetts Chan Medical School Project Title: Targeting CD137 signaling to inhibit CD8+ T cell-driven melanocyte killing 2024 ASA Incyte Research Scholar Award in Vitiligo/Pigment Cell Disorders Patrick M. Brunner, MD, MSc Icahn School of Medicine at Mount Sinai Project Title: Type 2 immune activation as an entry point to vitiligo lesion formation 2024 ASA Research Scholar Award in Atopic Dermatitis Helen He, MD Icahn School of Medicine at Mount Sinai Project Title: Comprehensive tape-strip and blood profiling of atopic dermatitis and controls across age spectrum 2024 ASA Janssen Research Scholar Award in Psoriasis & Related Biology Christine C. Yokoyama, MD, PhD Washington University in St. Louis Project Title: Regulation of epidermal homeostasis by centrosomal protein CEP43 2024 ASA Mulvaney Family Foundation Research Grant in Vitiligo/Pigment Cell Disorders Umber Dube, MD, PhD University of California, San Diego Project Title: Investigating Pigmentary Changes in Cystinosis Ex Vivo Gene Therapy 2024 ASA La Roche-Posay Research Grant in Melanoma and Skin Cancer Mohammad A. Saad, PhD Massachusetts General Hospital Project Title: Interstitial Photodynamic Therapy for enhancing response to immune checkpoint blockade in melanoma 2024 ASA Bristol Myers Squibb Research Grant in Psoriasis & Related Biology Cory L. Simpson, MD, PhD University of Washington Project Title: Targeting the autophagy pathway to normalize epidermal differentiation in psoriasis 2024 ASA Arcutis Biotherapeutics Research Grant in Psoriasis & Related Biology Bahram Razani, MD, PhD University of California, San Francisco Project Title: Epidermal Innate Immune Signaling as Driver of Psoriatic Disease 2024 ASA UCB Research Grant in Psoriasis & Related Biology Sarah K. Whitley, MD, PhD UMass Chan Medical School Project Title: High-dimensional single-cell analysis of CD1a restricted T cells in psoriasis 2024 ASA Leo Pharma Research Grant in Atopic Dermatitis Richard Wang, MD, PhD UT Southwestern Medical Center Project Title: Elucidating the Signaling Functions of GLUT3 in Atopic Dermatitis 2024 ASA Bristol Myers Squibb Medical Student Grant in Psoriasis & Related Biology Aaron Bao Johns Hopkins School of Medicine Project Title: Investigating transcriptional mechanisms underlying calcinosis cutis in dermatomyositis ABOUT AMERICAN SKIN ASSOCIATION A unique collaboration of patients, families, advocates, physicians, and scientists, ASA has evolved over nearly four decades as a leading force in efforts to defeat melanoma, vitiligo, psoriasis, atopic dermatitis, and other skin diseases. Established to serve the now more than 100 million Americans – one-third of the U.S. population – afflicted with skin disorders, the organization's mission remains to: advance research, champion skin health, particularly among children, and drive public awareness about skin disease. ASA is a 501(c)3 non-profit organization. For more information, visit americanskin.org. American Skin Association has earned Candid's Seal of Platinum Transparency and the Four-Star Rating from Charity Navigator. SOURCE American Skin Association

Avrobio’s stockholders will own approximately 24.8% of the new company while old Tectonic shareholders, including the investors in the private placement, will hold 75.2% of the combined company’s outstanding common stock. Credit: Fahmi Ruddin Hidayat/Getty Images. Tectonic Therapeutic has completed a reverse merger with AVROBIO and will begin trading on the Nasdaq global market as Tectonic Therapeutic (ticker symbol ‘TECX’) on 21 June. Coinciding with the merger, the new company also completed a private placement of $130.7m with multiple US and European investors. Following the placement, Tectonic reported total cash reserves of $181m, before payment of final transaction-related expenses, which is expected to fund operations until mid-2027. As part of the merger, Avrobio enacted a 1-for-12 reverse stock split of its common shares, along with an issuance of a non-transferable contingent value right. Under that, shareholders will have the rights to cash payments received by Tectonic, if any, related to Avrobio’s pre-transaction legacy assets. Avrobio’s stockholders will own approximately 24.8% of the new company while old Tectonic shareholders, including the investors in the private placement, will hold 75.2% of the combined company’s outstanding common stock. The merged company’s stock debuted at a share price of $16.80 on the Nasdaq. The companies first announced the merger back in January, prompted by Avrobio’s cash-strapped coffers. The company’s money woes started last year when it stopped development work on its gene therapy programmes. Avrobio also sold its investigational haematopoietic stem cell (HSC) gene therapy programme, designed to treat cystinosis, to Novartis in an all-cash deal valued at $87.5m. See Also: SGNB-7H4V by Pfizer for Human Epidermal Growth Factor Receptor 2 Negative Breast Cancer (HER2- Breast Cancer): Likelihood of Approval SGNB-7H4V by Pfizer for Epithelial Ovarian Cancer: Likelihood of Approval Tectonic’s lead asset, TX000045 (TX45) , is a G protein-coupled receptor (GCPR) targeting the Fc-relaxin fusion molecule. It activates relaxin family peptide receptor 1 (RXFP1) in cardiovascular cells and its overexpression can have a cardioprotective effect. The therapy is being evaluated in a Phase Ia trial in patients with group 2 pulmonary hypertension due to left-sided heart disease, one of the most common forms of pulmonary hypertension. “We expect to initiate a randomised Phase II clinical trial for our lead program, TX45, in group 2 pulmonary hypertension in the setting of left heart disease with preserved ejection fraction in the second half of this year,” said Dr Alise Reicin, president and CEO of Tectonic. “Results from the ongoing Phase Ia clinical trial in this patient population are expected in mid-2024, to be followed by Phase Ib results expected in 2025 and results from the Phase II clinical trial expected in 2026.” The company’s second programme targets hereditary haemorrhagic telangiectasia (HHT), a genetic bleeding disorder that causes vessel enlargement and malformations. Tectonic plans to select a development asset for HHT later this year and start clinical trials in the fourth quarter (Q4) of 2025 or Q1 2026.