Weimer Lab

01/24/2026

💜 Join us for Rare Disease Day!
Help us raise awareness and celebrate the strength of the rare disease community.

📅 February 28 | 6–8 PM
📍 Overlook Café at the Falls
🎟️ Free to attend

01/17/2026

🧬 Investigación urgente para la enfermedad de Batten CLN6

Las enfermedades raras progresan rápidamente y cuentan con muy poca evidencia científica disponible. En estos padecimientos, es bien sabido que el uso compasivo o off-label de medicamentos suele convertirse en el estándar de atención, debido a la falta de alternativas terapéuticas aprobadas. Sin embargo, el acceso a este tipo tratamientos no está disponible para muchos pacientes, ya que la legislación de numerosos países no permite que estos medicamentos se suministren a través de los sistemas de salud pública (incluso privada) a falta de evidencia y aprobaciones de entidades de reconocimiento mundial como la FDA o la EMA (Administración de Alimentos y Medicamentos de los Estados Unidos y Agencia Europea de Medicamentos respectivamente, por sus siglas en inglés).

Por esta razón investigar no es opcional, es urgente.

En Fundación Batten Costa Rica, junto con otras fundaciones aliadas y en colaboración con el laboratorio de la Dra. Jill Weimer Weimer Lab en estamos financiando un estudio de investigación con un objetivo muy claro:
👉 comprender mejor cómo actúa el Miglustat en niños con enfermedad de Batten CLN6.

Muchas familias alrededor del mundo, con hijos afectados por CLN6, han comenzado recientemente a utilizar Miglustat y han observado la desaparición y/o el enlentecimiento en la aparición y progresión de síntomas. Este estudio busca generar datos que ayuden a comprender si estos efectos observados en la práctica clínica real se sostienen también en la investigación científica.

El laboratorio evaluará el uso de Miglustat en un modelo murino de CLN6 durante un período de tiempo definido, con la esperanza de generar evidencia que mejore la comprensión del mecanismo de acción del medicamento en CLN6 y ayude a orientar futuras decisiones médicas.

Hodeilargi CLN6

12/25/2025

From all of us in the Weimer Lab, we wish you a very Merry Christmas and a happy, healthy New Year. 🎄 We are deeply grateful to the families and patients who trust us with their stories, and to the truly extraordinary scientists we’re lucky to work alongside every day. We’re especially thankful for our hardworking, collegial, and collaborative team—science is better (and more fun) when it’s done together. ✨ Sharing a little look back at ornaments from years past… and stay tuned—tomorrow we’ll reveal this year’s new addition!

11/01/2025

We finished off NCL2025 Australia with Joelle presenting on our CLN2 cardiac biomarkers and Clarissa presenting on biomarker discovery in large animal models! A great conference with a lot of great science!

11/01/2025

Happy Halloween from the Weimer lab! 🎃

10/31/2025

NCL2025 Australia is off to a great start! Jill gave two talks in the preclinical sessions - one focusing on novel precision medicine / gene editing approaches the Weimer team is taking for CLN2 disease and the second centered around uncovering cardiac changes in CLN2 animal models.

10/30/2025

Members of the Weimer team are excited to be attending NCL2025 in the Sunshine Coast, Australia. The meeting kicked off with a pre-meeting workshop on large animal models of Batten disease organized by Drs Sam Eaton and Nadia Mitchell.

10/08/2025

Former Weimer Lab and Sanford CoRDS team member Ben Forred joins the amazing Sean and Kyle on the Two Disabled Dudes Podcast

Meet our friend Ben on the latest episode!

Scientist. Dad. Dog foster parent. Woodworker. Community volunteer.
Oh yeah — and founder of , where he helps rare disease advocacy orgs shine online.

Listen now: https://twodisableddudes.com/281-pixels-with-purpose-ben-forred🎧

09/21/2025

Meliora Weekend was filled with so many special moments, but the pinnacle was Dr. Jill Weimer receiving the Alumni Achievement Award from the University of Rochester School of Medicine & Dentistry! 💙💛

Jill’s career in Batten disease research began at UR as both an undergraduate and graduate student in the labs of Drs. David Pearce and Howard Federoff. Today, that work continues through the incredible scientists in her Sanford lab and through research partnerships with collaborators at UR and beyond. Together, these teams—and the amazing rare disease families who inspire this mission—make everything possible.

Jill also shares her gratitude for the support of her family, friends, and mentors, all of whom have played a role in this journey.

This award was a true honor and a wonderful capstone to an unforgettable Meliora Weekend!

09/19/2025

This weekend, Dr. Jill Weimer gave the invited Alumni Lecture during Meliora Weekend at the University of Rochester School of Medicine & Dentistry! Her talk, “From Rare to Remarkable: Turning Research into Therapies,” shared the story of how her graduate work at UR SMD in the labs of Drs. David Pearce and Howard Federoff on CLN3 Batten disease laid the foundation for a career dedicated to rare disease research and therapy development.

She highlighted the incredible collaborations that make this work possible—especially with colleagues at UR SMD, Batten Disease Centers of Excellence, and most importantly, the families who bravely partner with us in the fight against Batten disease.

It was a tremendous honor to return to Rochester to share this journey with the community where it all began! 💙💛

09/18/2025

Jill is in Rochester this weekend for Meliora Weekend and the SMD Alumni Council meeting! This is one of her last meetings as Immediate Past President of the Alumni Council—a role she has been honored to serve in.

Looking ahead, Jill is also beginning a new chapter as the School of Medicine & Dentistry lead for the University-wide For Ever Better capital campaign, launching tonight. A wonderful opportunity to keep supporting the mission of research, education, and innovation that drives our community forward.

We’re proud of her continued leadership and commitment to the University of Rochester! 💙💛

09/15/2025

This weekend, Team Weimer participated in the annual Shine a Light on NF walk to support those affected by neurofibromatosis and raise awareness for NF research!