The Jackson Laboratory

What can stem cells tell us about autism and other developmental brain disorders?

Developed by JAX Professor Martin Pera, a new stem cell–based platform developed at JAX uses induced pluripotent stem cells (iPSCs) from eight genetically distinct strains of mice to unlock one of the biggest mysteries in genetics. Why does the same genetic mutation have little to no effect in one person while have potentially causing a devastating disease in another?

Image (top) - Brain cells created from induced pluripotent stem cells shown under a microscope in The Pera Lab at JAX. Text below reads: This new platform allows scientists to grow brain cells reliably from each strain, a major technical advance that opens the door to studying many other disease-linked genes in a more realistic and scalable way, opening new possibilities for studying disease-linked genes in more realistic and predictive ways.

Pera focused on a gene called DYRK1A, which plays a key role in brain development and is associated with conditions like autism, microcephaly, and intellectual disability. He introduced the same DYRK1A mutation into iPSCs from each mouse strain and coaxed those stem cells to form neurons. Despite having the exact same genetic change, the neurons responded very differently depending on their genetic background. Some looked like healthy human brain cells. Others resembled neurons seen in patients with autism or microcephaly.

A new stem cell–based platform developed at JAX is shedding light on one of the biggest mysteries in genetics: why the same disease-causing mutation can affect people in dramatically different ways—from severe symptoms to no symptoms at all.🧪 🧫 🧠 🔬

https://go.jax.org/stem-cells-autism

YouTube video by The Jackson Laboratory JAX in Motion | Precision Brain Cancer Diagnosis

When doctors diagnose a brain tumor, they often face a high-stakes mystery: Is it slow-growing and treatable or aggressive and terminal? The JAX Advanced Precision Medicine Laboratory is changing the lives of patients through cutting-edge testing. 🧠 🧪

https://youtu.be/GwzGW2YY1W4

From patient to researcher: How a CT woman is helping close gaps in endometriosis care Despite its prevalence and complexity, the exact cause and biology of endometriosis is still not well understood.

The Hour recently highlighted EndoRISE, an effort in Connecticut advancing research, innovation, support, and education in endometriosis, powered by teams at UConn Health and JAX.

Read it: https://go.jax.org/3bqs3u

🧪 #ObGynSky #MedSky #ReproSky

Precision Oncology for Genetic Counselors 30-minute CEU courses and webinars on foundational topics in precision oncology including cancer biomarker testing, cancer genetic testing, genetic testing for inherited cancer risk, hereditary cancer...

👋 NEW: On-demand, case-based, CEU-approved. Genetic counselors, strengthen confidence interpreting biomarker testing using real-world clinical scenarios.

🧪 https://go.jax.org/9o8i1i 🧬 🖥️

YouTube video by The Jackson Laboratory JAX In Motion | The Pera Lab: Mapping The Spectrum

What can #stemcells tell us about #autism and other developmental brain disorders?

JAX is pairing stem cell technology with genetic diversity to uncover why identical mutations can lead to severe disease in some—and no symptoms in others. 🧪🧬🔬 https://www.youtube.com/watch?v=Q46sbvmumRg

Why do vaccines work for some, but not others? Early-career scientist Sathyabaarathi Ravichandran studies why vaccines protect some older adults better than others—and how those insights could shape precision vaccinology.

Why do flu vaccines work for some, but not others? JAX early-career scientist Sathyabaarathi Ravichandran studies why vaccines protect some older adults better than others—and how those insights could shape precision vaccinology. https://go.jax.org/vaccine-immune-response

JAX research roundup: virtual hearts, flu therapy, and more JAX is addressing the significant challenges in drug development with the CARDIOVERSE project, which utilizes AI-powered "virtual hearts" to enhance drug safety testing.

From AI-powered research to unlocking gene function, JAX scientists are paving the way for the future of precision medicine. Here is some notable news you may have missed. https://www.jax.org/news-and-insights/2025/december/jax-research-roundup-virtual-hearts-flu-therapy-and-more

✨ Did you know JAX offers free, self‑paced online MicroLessons (15 minutes) and Mini‑Courses (1–2 hours)?

👉 MicroLessons: https://education.learning.jax.org/page/online-microlessons
👉 Mini‑Courses: https://education.learning.jax.org/page/online-minicourses

We know it's New Years Eve, but these aren't fireworks 🎇!

Check out this microscopy image of neural progenitor cells — multipotent, self-renewing cells in the central nervous system that generate neurons and glial cells in the 🧠.

Credit: Pera Lab at JAX

New year, new era of discovery. Thank you for all of your support this year and we can’t wait to share 2026 with you. Happy New Year from all of us at The Jackson Laboratory!

Two scientists in lab coats. The Jackson Laboratory Logo and text reads "Mouse models for ultra-rare disorder could pave the way for nervous system gene editing therapies"

TEXT READS Scientists at JAX have developed mouse models that survive premature death and enable pre-clinical testing of alternating hemiplegia of childhood (AHC) a devastating and sometimes fatal neurological disorder that affects about one in a million children with no treatment yet. The models offer clear insights into how alternating hemiplegia of childhood progresses—and how it might be stopped.

A stylized quote with a headshote. White text on black background. Text reads: "We need to stop thinking about AHC as a rare disease and start thinking about it and other rare diseases as genetic disorders at large. We’re not just studying specific disorders and their underlying disease mechanisms in isolation — we’re advancing therapeutic technologies that could eventually treat many genetic disorders associated with common neurological conditions." - Cat Lutz, Ph.D., MBA, Vice president JAX Rare Disease Translational Center

Text reads: The research comes from JAX’s Rare Disease Translational Center, which focuses on bridging the gap between genetic research and clinical treatment by working closely with other scientific organizations, families, and patient foundations to drive therapies for rare diseases.

We're sharing some of our most popular posts of 2025. JAX developed mouse models that survive premature death and enable pre-clinical testing of #AHC. https://www.jax.org/news-and-insights/2025/july/mouse-models-for-ultra-rare-disorder-could-pave-the-way-for-nervous-system-gene-editing-therapies

YouTube video by The Jackson Laboratory JAX in Motion | Linking The Microbiome & ME/ Chronic Fatigue Syndrome

As we head into 2026, we're sharing some of our most popular posts of 2025. This video from our JAX in Motion series linking the Microbiome & ME/ Chronic Fatigue Syndrome was our most popular video of the year on social media! https://youtu.be/lV9OsLvWWL0

This colorful image maps the human endometrium at the single-cell level, with each color representing a different cell type or gene within the uterus’s lining. Yellow and dark pink represent the epithelial glandular cells— specialized epithelial cells that form glands to secrete various substances to prepare for and facilitate the embryo implantation and maintain pregnancy. Purple shows the basal epithelial cells, which contain progenitor cells located at the base of the endometrium. They are anchored to the basement membrane and serve as a source of new cells for the epithelium. The light pink, green and light and dark blues on the image show fibroblasts, which are cells that form and maintain connective tissue. The dots on the image show different genes: orange (MUC1), pink (EPCAM), red (MME), and yellow (THY1).

As we head into 2026, we're sharing some of our most popular posts of 2025. This featured image taken at JAX of was our most popular image of the year on social media. It shows a single-cell spatial transcriptomic map of the human endometrium (the inner lining of the uterus). 🔬

a 3d polygonal model of a stem cell

This new featured image from JAX shows a 3D rendering revealing the intricate interior of a human stem cell, centered around a prominent blue nucleus. 🔬 🧪

Learn more: https://www.jax.org/news-and-insights/2025/december/understanding-the-structure-of-a-stem-cell

Infographic depicting CARDIOVERSE, a platform by The Jackson Laboratory that predicts cardiac risks by integrating data from genetically diverse mice and human stem cells. The image includes illustrations of different colored mice, a heart tissue sample, and human induced pluripotent stem cells (iPSCs).

Alt Text: "A computer monitor displays a digital image featuring a large, central heart shape composed of intricate lines, surrounded by smaller multicolored heart shapes. The text beneath discusses the capabilities of CARDIOVERSE in estimating heart safety risks based on human genetic backgrounds."

Two charts depicting drug response signals. The first chart shows multiple line graphs of varying colors representing individual risk scores. The second chart displays an array of medicines, organized in rows, illustrating different studies on cardiac response to medications. The text discusses the use of these models to predict the impact of drugs on human hearts.

Graphic of six silhouetted figures with a gradient fill, standing next to an oversized capsule pill, representing a focus on clinical trials in drug development. Text describes the virtual screening of drug candidates to prioritize safer, cheaper therapies.

#CARDIOVERSE: Combining AI, stem cells & genetic variation to predict drug safety before human trials. By building virtual hearts, JAX scientists aim to dramatically reduce the need for large-animal studies, streamline approvals & ensure safer, faster delivery to patients. go.jax.org/cardioverse

YouTube video by The Jackson Laboratory Manhattan Milestone: JAX and NYSCF Mark a New Chapter in Biomedical Discovery

At a packed event in Manhattan, we officially "tied the ribbon" with JAX and NYSCF officials, local politicians, and supporters came together to celebrate the symbolic joining of our two organizations — and the start of a new era in biomedical discovery. https://youtu.be/tKw9bACnP0w

Developing new drugs is one of the riskiest and most expensive endeavors in science, but a new project led by The Jackson Laboratory aims to change that. JAX's new CARDIOVERSE project combines AI, stem cells, and genetic variation to predict drug safety before human trials. 🧪 go.jax.org/cardioverse

Representatives from prominent patient advocacy organizations share perspectives on the challenges, progress, and future directions in endometriosis care.

View their discussion here: go.jax.org/ERFireside2025

The EndoRISE Fall Forum, hosted by JAX, spotlighted groundbreaking science, patient-centered solutions, and the power of partnership to transform outcomes for millions living with endometriosis.

📰 Read the story: https://go.jax.org/ERForum2025

📼 View clips from the event in the comments ⤵️

Rewiring recovery: Inside the quest to understand how the brain rewires itself after stroke In the Joy Lab at The Jackson Laboratory, researchers examine the neural pathways in the brain after a stroke, laying the groundwork for targeted therapies for recovery

Rewiring Recovery: How researchers at JAX are studying exactly how the brain’s neural circuits change after a stroke—and the effects that has on #stroke survivors. 🧠 🧪

YouTube video by The Jackson Laboratory How does our circadian rhythm affect our cells? | Gretchen Clark | 2025 JAX Scholar

Clark's practical advice for seasonal affective disorder:
🌅 prioritize morning light,
📱 reduce nighttime screen use,
⏰ and maintain a consistent routine.

See more at: youtu.be/Yue3i6yJBtE?...

YouTube video by The Jackson Laboratory 👋 Meet Gretchen Clark

Gretchen Clark, 2025 JAX Scholar, is exploring how circadian rhythms influence cellular aging—especially the behavior of senescent cells. Her work could unlock new strategies for healthy aging.

Watch her explain the science in this one-minute video: https://youtu.be/oq8lxhudOnE?si=Nd7G235lBtTQ-UeL

a microscopy image of stem cells in the shape of a heart. White text on black reads: Welcome to the CARDIOVERSE. JAX receives an up to $30M contract award to revolutionize drug safety testing with AI-powered "virtual hearts"

Thanks to an up to $30M contract award from ARPA-H, JAX aims to revolutionize drug safety testing with the #CARDIOVERSE—a new project that combines #AI, #stemcells, and #genetic variation to predict #drugsafety before human trials. 💊 🧪 🔬 🤖

go.jax.org/cardioverse

Stronger together: Fueling the future of medicine Our organizations are joining forces to tackle some of the world’s greatest health challenges.

Together, JAX and NYSCF combine strengths in genetics, stem cells and data science to accelerate discovery and deliver solutions that will make a lasting difference for patients around the world. 🧬 🐁 🔬

Beyond Genes: Epigenetics, Environment and Health Gain a basic understanding of genetics versus epigenetics and learn about environmental causes and consequences of epigenetic changes in human and mouse model studies.

🧬 Curious about the difference between #genetics and #epigenetics?

Explore how environment, epigenetics and health intersect with @jacksonlab.bsky.social's free, 1 – 2 hour course: education.learning.jax.org/beyond-genes...

#EpiSci #EpigeneticsSci #Epigenomics

Reprogramming biology: iPSCs and the future of predictive research How patient-derived stem cells and genomic tools are transforming disease modeling and accelerating cures

Reprogramming biology: iPSCs and the future of predictive research

How patient-derived stem cells and genomic tools are transforming disease modeling and accelerating cures 🧬🧪🔬🧫

We are grateful for the incredible people who make our mission possible. From the patients and families who inspire us, to the researchers, partners and supporters who fuel discovery, thank you for being part of the JAX community.

Together, we're advancing science and improving human health.

Search Magazine, Vol. 18, No. 2 - Fall 2025 Search Magazine Fall 2025 A powerful alliance to accelerate the pace of discovery. The Jackson Laboratory & The New York Stem Cell Foundation

Dive into our latest issue of JAX's Search Magazine to read all about the JAX-NYSCF Collaborative and how we're building an integrated discovery platform with #mice, #stemcells, and #AI to transform human health. 🧠 🧪 🔬 🤖 https://online.flippingbook.com/view/661118668/

Reprogramming biology: iPSCs and the future of predictive research How patient-derived stem cells and genomic tools are transforming disease modeling and accelerating cures

Reprogramming biology: iPSCs and the future of predictive research

How patient-derived stem cells and genomic tools are transforming disease modeling and accelerating cures 🧬🧪🔬🧫

As winter approaches, we’re reflecting on the incredible work happening at JAX. Thank you, Commissioner Michael Duguay of the Maine Department of Economic and Community Development, for visiting this week to learn about our work and the impact of state support on our mission to improve human health.