Goal #2: Promote partnerships and collaborations

The Southern California Clinical and Translational Science Institute's (SC CTSI) Community Engagement Core recently published a research paper in Frontiers in Public Health titled “The Fundamentals of Health Research Training for Community Health Workers: A Mixed-Methods Study.” The paper was authored by Nicole Wolfe, Ph.D.; Andrea Diaz; Brian Do-Golden, M.P.H., CHES; Esther Karpilow; Mayra Rubio-Diaz; and Michele D. Kipke, Ph.D. This paper presents The Fundamentals of Health Research, a training developed to build the capacity of community health workers/promotores de salud to engage the public in clinical research. The training equips them with the knowledge and skills needed to serve as trusted research educators, advocates, and members of research teams…&nbsp;Read the full article <a href="https://sc-ctsi.org/news/research-paper-on-sc-ctsis-community-health-worker-training-published-in-frontiers-in-public-health" target="_blank" rel="noopener noreferrer">here</a>.

Southern California Clinical and Translational Science Institute

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University of Southern California

Research Paper on SC CTSI’s Community Health Worker Training Published in "Frontiers in Public Health"

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Goal #4: Improve clinical research

Researchers, in a competitive and uncertain funding landscape, more than ever it's important to strengthen your grant writing skills, strategize your funding plan, and diversify your options.&nbsp;Harvard Catalyst’s series of online courses teach both grant writing skills and tools for securing funding for your research. The range of funding options available is also be addressed.&nbsp;Learn more and register <a href="https://ondemand.catalyst.harvard.edu/" target="_blank" rel="noopener noreferrer">here</a>.

Harvard Clinical and Translational Science Center

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Harvard Medical School

On Demand Grant Writing & Funding Courses from Harvard Catalyst

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CCOS is pleased to continue our series of hub highlights, celebrating innovative contributions to clinical and translational science across the CTSA Program. Today, we spotlight the leading effort from the University of Pennsylvania’s Institute for Translational Medicine and Therapeutics in the world of gene-editing treatment for rare disorders.&nbsp;&nbsp;For the first time, researchers have treated a baby born with a rare, life-threatening genetic disorder with a custom gene-editing treatment designed for his precise mutation. This advancement comes on the heels of using gene-editing to treat an adult with congenital blindness in 2020. Prior to this, cells had only been edited outside of the human body and reinfused into a patient.&nbsp;&nbsp;&nbsp;At a week old, the patient KJ was diagnosed with a rare genetic disorder affecting 1 in 1.3 million babies – Carbamoyl Phosphate Synthetase 1 deficiency (CPS1D).&nbsp; When properly functioning, the CPS1 enzyme plays a critical role in the urea cycle by helping break down ammonia. However, with a deficient CPS1 enzyme, ammonia – which is especially toxic to the central nervous system – starts to build up in the blood. Those who survive exhibit severe mental and developmental delays, eventually needing a liver transplant. Half of all babies with CPS1D die in the first week of life.&nbsp;&nbsp;Gene editing tools are incredibly complex and nuanced, and until now, researchers have built them to target more common diseases that affect tens or hundreds of thousands of patients. Two diseases of this nature, sickle cell disease and beta thalassemia, currently have U.S. Food and Drug Administration-approved gene-editing therapies. However, relatively few diseases benefit from a “one-size-fits-all” gene editing approach, since so many disease-causing variants exist.&nbsp;&nbsp;<a href="https://www.itmat.upenn.edu/" target="_blank" rel="noopener noreferrer">The Institute for Translational Medicine and Therapeutics (ITMAT)</a> at the University of Pennsylvania includes investigators from all schools at Penn, the Children's Hospital of Philadelphia, and the Wistar Institute. Fittingly, the CTSA funded hub focuses on clinical and translational research that aids in the development of new and safer medicines. ITMAT researchers <a href="https://www.chop.edu/doctors/ahrens-nicklas-rebecca" target="_blank" rel="noopener noreferrer">Rebecca Ahrens-Nicklas, M.D., Ph.D.,</a> at Children’s Hospital of Philadelphia and <a href="https://www.med.upenn.edu/apps/faculty/index.php/g275/p8870185" target="_blank" rel="noopener noreferrer">Kiran Musunuru, M.D., Ph.D., M.P.H,</a> at the University of Pennsylvania have been collaborating with an international team of scientists for two years on a form of Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) base-editing gene therapy for rare diseases, expanding upon years of research into rare metabolic diseases. CRISPR is a technology used to selectively modify the DNA of living organisms, and was adapted for laboratory use from a naturally occurring genome editing system found in bacteria. Base editing – the technology used to develop the therapy for KJ – is a form of CRISPR technology that allows for targeted changes to individual DNA bases without introducing double-stranded breaks into DNA.&nbsp;&nbsp;&nbsp;Thanks to their prior work, the timing was right to design a CRISPR gene therapy tailor-made to fix KJ’s precise gene mutation. Within six months, the team created a base editing therapy, which was delivered to the liver via lipid nanoparticles to correct KJ’s defective enzyme. After three infusions of the experimental therapy, KJ was able to eat more protein, gain weight, and hit milestones never thought possible. The treatment was successful and KJ was discharged home with his parents.&nbsp;&nbsp;&nbsp;&nbsp;“Years and years of progress in gene editing and collaboration between researchers and clinicians made this moment possible, and while KJ is just one patient, we hope he is the first of many to benefit from a methodology that can be scaled to fit an individual patient’s needs,” Dr. Ahrens-Nicklas <a href="https://penntoday.upenn.edu/news/penn-medicine-worlds-first-patient-treated-personalized-crispr-gene-editing-therapy-childrens-hospital" target="_blank" rel="noopener noreferrer">said in a press statement</a>.&nbsp;&nbsp;&nbsp;The case is detailed in a <a href="https://www.nejm.org/doi/full/10.1056/NEJMoa2504747" target="_blank" rel="noopener noreferrer">study</a> published by The New England Journal of Medicine. The breakthrough offers a way to develop personalized treatments for the over 30 million people in the US with more than 7,000 rare genetic diseases. Eventually, it may be used for the treatment of more common genetic disorders like cystic fibrosis and muscular dystrophy. “This is the first step towards an entirely new type of personalized medicine,” Dr. Musunuru <a href="https://www.npr.org/sections/shots-health-news/2025/05/15/nx-s1-5389620/gene-editing-treatment-crispr-inherited" target="_blank" rel="noopener noreferrer">told NPR</a>. “I think it's going to utterly transform the way we practice medicine, particularly in the area of rare diseases.”&nbsp;&nbsp; &nbsp;&nbsp;To read more about exciting advancements in the field of genetics, check out our hub spotlights on the <a href="https://ccos-cc.ctsa.io/news/hub-spotlight-utah-ctsi">Tandem Repeat Genotyping Tool</a> from the University of Utah, and an effort by Frontiers CTSI at the University of Kansas to bring <a href="https://ccos-cc.ctsa.io/news/hub-spotlight-frontiers-clinical-ctsi-university-of-kansas">cutting-edge genetic testing</a> to rural communities.&nbsp;

University of Pennsylvania Institutional Clinical and Translational Science Award

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University of Pennsylvania

Hub Spotlight: University of Pennsylvania’s Institute for Translational Medicine and Therapeutics

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Research Paper on SC CTSI’s Community Health Worker Training Published in "Frontiers in Public Health"