It’s been a great publishing week for the @sahinm.bsky.social’s lab! Kellen Winden and team provide an in‑depth overview of the biology, diagnosis, management, and evolving research landscape of #TSC. A great resource highlighting advances in this important genetic cause of #epilepsy and #autism.

Tuberous sclerosis complex

Nature Reviews Disease Primers - This Primer by Sahin and colleagues summarizes the epidemiology, pathophysiology, diagnosis and treatment of tuberous sclerosis complex.

nature.com

Publication alert! We built an #opensource platform for functional phenotyping of hiPSC-derived #neurons, combining calcium #imaging, #optogenetic stimulation, #automated acquisition and analysis into an accessible workflow. @fedegasparoli.bsky.social @sahinm.bsky.social @sciwhye23.bsky.social

An Open‐Source Pipeline for Calcium Imaging and All‐Optical Physiology in Human Stem Cell‐Derived Neurons

This work introduces an open-source all-optical platform for functional phenotyping of human stem cell-derived neurons. The system integrates optogenetics, calcium imaging, automated acquisition, and...

advanced.onlinelibrary.wiley.com

🗣️Non-federal funding alert!!! Aligning Research to Impact Autism (ARIA) has a new RFA to join their IMPACT Network, a clinical-translational research effort to accelerate care for people across the spectrum by enabling rapid therapeutic development. Up to $15 million over 5 years. bit.ly/3YRYMv3

Kari Rosbeck making opening remarks at the inspirational TSC Alliance Regional Conference in Boston

Excited to share a new paper from our lab out this week in Molecular Psychiatry on an mTORopathy, PTEN Hamartoma Tumor Syndrome. www.nature.com/articles/s41...

Phenotypic rescue via mTOR inhibition in neuron-specific Pten knockout mice reveals AKT and mTORC1-site specific changes - Molecular Psychiatry

Molecular Psychiatry - Phenotypic rescue via mTOR inhibition in neuron-specific Pten knockout mice reveals AKT and mTORC1-site specific changes

nature.com

Research from the lab of Clifford Woolf at Boston Children's finds that, in a mouse model of type 2 diabetes, immune cells flood into peripheral nerves. This insight could lead to strategies to prevent peripheral neuropathy in diabetes. www.nature.com/articles/s41...

Macrophages protect against sensory axon loss in peripheral neuropathy - Nature

A study in a mouse model of obesity and prediabetes demonstrates that recruitment of macrophages to nerves has a protective role in diet-induced peripheral neuropathy.

nature.com

A new review of protein homeostasis in neurodevelopmental disorders led by Dr. Kellen Winden at Boston Children's Hospital and Juan Ruiz who is now attending MD-PhD program at Yale School of Medicine authors.elsevier.com/a/1kAvF3Q9h2...