{"id":237172,"date":"2025-09-18T20:19:13","date_gmt":"2025-09-18T20:19:13","guid":{"rendered":"https:\/\/www.europesays.com\/us\/237172\/"},"modified":"2025-09-18T20:19:13","modified_gmt":"2025-09-18T20:19:13","slug":"uc-davis-scientists-pioneer-stem-cell-gene-therapy-for-angelman-syndrome","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/us\/237172\/","title":{"rendered":"UC Davis scientists pioneer stem cell gene therapy for Angelman syndrome"},"content":{"rendered":"

UC Davis Health researchers are testing a new gene therapy that could be transformational for patients with Angelman syndrome, a rare neurodevelopmental condition. The promising treatment could reduce or even eliminate symptoms by replacing a missing protein with a functional one.\u00a0<\/p>\n

From left, Professor of Psychiatry and Behavioral Sciences Jill Silverman and Associate Professor of Internal Medicine Joseph Anderson are collaborating on the project.\u00a0<\/p>\n

The project is led by UC Davis MIND Institute<\/a> neuroscientist Jill Silverman<\/a>, a professor of psychiatry and behavioral sciences, and Joseph Anderson<\/a>, an associate professor of internal medicine who specializes in developing stem cell gene therapies. It is funded by a $4.5 million grant from the California Institute for Regenerative Medicine<\/a> (CIRM), the state\u2019s stem cell agency.<\/p>\n

Angelman syndrome<\/a> appears in early childhood. Common features include developmental delays, intellectual disability, seizures, speech challenges and problems with movement and balance. Angelman occurs in about 1 in 15,000 live births. There is no effective treatment or cure.<\/p>\n

Angelman syndrome is caused by the loss of functional UBE3A gene in the brain. The gene provides instructions to make a protein called ubiquitin protein ligase E3A. When this protein is missing, nervous system function is impaired.<\/p>\n

A groundbreaking new approach for neurodevelopmental conditions<\/strong><\/p>\n

The new gene therapy involves modifying a patient\u2019s bone marrow blood stem cells \u2014 called hematopoietic stem cells \u2014 to deliver a functional version of the gene to the brain.<\/p>\n

These cells could potentially reverse, stop or even prevent the symptoms of Angelman syndrome.<\/p>\n

\u201cWe use the immune system as a delivery vehicle to express and then deliver the functional form of the protein,\u201d Anderson explained.<\/p>\n

The therapy may require only one treatment to work.\u00a0<\/p>\n

Leveraging the patient\u2019s own biology to deliver therapeutics is a powerful technique that can eliminate unwanted or problematic effects.<\/p>\n

In their initial study, published in 2021<\/a>, Silverman and Anderson showed that the therapy reversed the Angelman phenotype in adult mouse models and prevented it in very young mouse models. The fact that it worked in both age groups was a major breakthrough.<\/p>\n

\u201cPrevious studies have emphasized that beyond very early in life, Angelman syndrome symptoms cannot be reversed, and our study contradicted that evidence and prior \u2018dogma\u2019 of the field,\u201d Silverman said.<\/p>\n

The new study is focused on the safety of the therapy, in the hopes of moving it to human clinical trials next.<\/p>\n

\u201cThis is the first time someone has attempted to use this strategy for a neurodevelopmental condition,\u201d Silverman explained. \u201cHematopoietic stem cell therapy is common for genetic lysosomal storage disorders, blood, immune and other diseases, but no one has ever done it in this area.\u201d<\/p>\n

\"Two
\nFrom left, Silverman and Anderson in front of Aggie Square, UC Davis’ Innovation District, where Silverman has a lab.\u00a0<\/p>\n

Striking the right protein balance<\/strong><\/p>\n

The therapy is designed to be precise. Too little UBE3A can cause Angelman syndrome. But too much can lead to another neurodevelopmental condition called Dup15q syndrome. The team has worked carefully to find the right balance.<\/p>\n

\u201cThis is a Goldilocks situation,\u201d Silverman said. \u201cWe need just the right amount of the protein \u2014 not too little, not too much.\u201d<\/p>\n

That is why a key part of the new research involves studying the expression of UBE3A in the treated mice.<\/p>\n

\u201cThe FDA wants us to look at the expression of UBE3A in our treated animals to ensure we have the right balance,\u201d Anderson explained.<\/p>\n

Silverman added: \u201cWe are measuring behaviors and impacts that have a direct patient benefit, an under-studied area that our labs have focused on for a long time.\u201d<\/p>\n

A perfect pairing<\/strong><\/p>\n

Silverman has a long history of research on Angelman and Dup15q syndromes and other genetic neurodevelopmental conditions. She is part of a team at the UC Davis MIND Institute that is focused on bringing innovative treatments from the research lab to the patient\u2019s bedside as quickly as possible.<\/p>\n

Anderson\u2019s expertise is in stem cell gene therapy development for diseases like HIV and Tay-Sachs disease, a genetic disorder that affects the central nervous system.<\/p>\n

\u201cJoe is an immunologist and virologist, while I\u2019m a neuroscientist, but we both are translational scientists, at heart,\u201d Silverman said. \u201cWe just want our labs\u2019 work to help affected children.\u201d<\/p>\n

Hope for the future <\/strong><\/p>\n

If the current study is successful, the researchers hope to expand this gene therapy approach to other neurodevelopmental conditions, including SYNGAP1, which they have already published a promising paper about.<\/a><\/p>\n

\u201cIf this works, it opens up a whole new world of possibilities and hope for patients and families,\u201d Silverman said.<\/p>\n","protected":false},"excerpt":{"rendered":"UC Davis Health researchers are testing a new gene therapy that could be transformational for patients with Angelman…\n","protected":false},"author":3,"featured_media":237173,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[26],"tags":[815,159,67,132,68],"class_list":{"0":"post-237172","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-genetics","9":"tag-science","10":"tag-united-states","11":"tag-unitedstates","12":"tag-us"},"share_on_mastodon":{"url":"https:\/\/pubeurope.com\/@us\/115227156306450196","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts\/237172","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/comments?post=237172"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts\/237172\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/media\/237173"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/media?parent=237172"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/categories?post=237172"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/tags?post=237172"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}