UCLA researchers receive $21.8 million in CIRM funding to advance innovative stem-cell treatments
Gene Therapy Advances for Angelman Syndrome and Alpha Thalassemia Major
In the world of genetic research, significant strides are being made in the development of innovative therapies for neuropsychiatric disorders and genetic diseases such as Angelman syndrome and alpha thalassemia major.
Angelman Syndrome: A Step Closer to a Cure
Dr. Roger Hollis, a researcher at the forefront of gene therapy development, has received a $5.8 million translational research award to treat Angelman syndrome. His approach involves modifying a patient's own blood stem cells using a viral vector to add a healthy copy of the mutated gene that causes the disorder. The team, consisting of experts from UCLA, UCSF, and UCSC, is focusing on metabolism, computational biology, and neurodevelopmental disorders.
The research has shown promising results, with complete symptomatic correction demonstrated in the commonly used adult mouse model of the disease. If successful, the therapy could offer a potentially curative option for patients with Angelman syndrome, who suffer from lifelong care requirements and debilitating symptoms such as a lack of speech, impaired motor function, and sleep difficulties.
Preparing for Clinical Trials
Dr. Aparna Bhaduri, who has received a $10.3 million grant, is conducting foundational research to uncover metabolic drivers of neuropsychiatric disorders. The team will use the new grant to prepare a pre-IND package submission to the U.S. Food and Drug Administration, which is the first step toward launching a phase 1 clinical trial to evaluate the therapy in humans.
Bhaduri and collaborators will use stem cell-derived 3D brain organoid models to compare metabolism in a healthy versus disrupted environment. They will specifically focus on samples from patients with schizophrenia and autism spectrum disorder. The researchers have created an innovative technological framework that models neurovascular interactions and has the flexibility to mix and match neural and vascular cells from control or affected individuals.
Alpha Thalassemia Major: Safer Stem Cell Transplants
While the gene therapy research for Angelman syndrome is separate from Dr. Donald Kohn's research on gene therapy for alpha thalassemia major, there are exciting developments in this area as well. The California Institute for Regenerative Medicine (CIRM) is actively funding stem cell-based research and therapies, including projects relevant to alpha thalassemia major.
Stanford Medicine researchers have developed an antibody-based conditioning method that prepares patients for stem cell transplants without the usual toxic chemotherapy or radiation. This method, showing near 100% donor cell chimerism two years post-transplant, holds promise for treating genetic blood disorders like alpha thalassemia major by enabling safer stem cell therapies.
CIRM's Role in Foundational Research
CIRM's role extends beyond disease-specific research. Their DISC5 funding program supports interdisciplinary teams aiming to advance fundamental understanding of stem and progenitor cells, which could enable future breakthroughs for neuropsychiatric disorders and genetic diseases such as Angelman syndrome and alpha thalassemia major by uncovering new therapeutic targets or biological insights.
Moreover, UCLA and Cedars-Sinai host major symposia on gene and cell therapies, highlighting progress in cell replacement therapies, gene editing, and immune approaches that are relevant platforms for treating neuropsychiatric and genetic disorders. These advances, co-supported by California institutions funded by CIRM, suggest an active pipeline for future therapies.
While no explicit recent clinical trials or therapies for neuropsychiatric disorders or Angelman syndrome funded by CIRM were found in the extracted documents, given CIRM’s stated scope and ongoing support for high-risk, foundational research and clinical translation, progress in these areas is likely underway at earlier preclinical stages.
- The research advances in gene therapy hold potential for treating not only Angelman syndrome but also other medical-conditions, such as alpha thalassemia major, thereby contributing to health-and-wellness and therapies-and-treatments for genetic diseases.
- The Californian Institute for Regenerative Medicine (CIRM) is actively funding foundational research for gene therapies for various genetic diseases like Angelman syndrome and alpha thalassemia major, aiming to discover new therapeutic targets and biological insights within health-and-wellness and therapies-and-treatments.
