Rare Disease Day 2023!

Quarterly Updates

From the Center for Rare Neurological Diseases (CRND)

February 2023

Welcome to Quarterly Updates from the CRND! Our goal is to provide patients, families, caregivers, staff, and the community at large with current news and resources about the rare diseases we treat. This month's focus is on Rare Disease Day 2023. We look forward to amplifying the patient voice and spotlighting the CRND's collaborative and innovative research. Thanks for reading!

Rare Disease Day

Happenings & Events

Rare Disease Day on Tuesday February 28th offers us the chance to advocate and raise awareness. Representatives from the CRND will be at the MassBio Rare Disease Day Event at the Statehouse in Boston.

Click on the logos below to learn more about how to get involved!

We Celebrate Black Excellence

in Neuroscience

Black History Month is important to us at the CRND. Due to systemic racism and discrimination, many Black scientists and medical professionals were historically underrepresented and their contributions often overlooked or undervalued. Despite these obstacles, the contributions of Black scientists have helped to advance our understanding of various medical conditions and have laid the foundation for continued progress in the field of neuroscience. One individual who embodies this is Dr. Keith L. Black.

Dr. Keith L. Black is a neurosurgeon and researcher best known for his work in the field of brain cancer research and treatment. He is the chairman of the department of neurosurgery and directir of the Maxine Dunitz Neurosurgical Institute at Cedars-Sinai Medical Center in Los Angeles, California. Dr. Black is widely recognized as an expert in the surgical treatment of brain tumors and has been awarded several honors and awards for his contributions to the field.

Read more about Dr. Black here

Message from

Dr. Florian Eichler

Hello to patients, caregivers, families and friends,

This month we are excited to highlight Rare Disease Day on February 28th. We stand in solidarity with the rare disease patients who face challenges including difficulties in obtaining diagnosis, access to treatment and care, and the need for increased research and support.

The mission of the CRND is to create new opportunities to improve the lives of those affected by rare, monogenic neurological disorders by building new alliances based on insights from biology, clinical unmet needs, and recent advances in technology. Throughout strategic decision making, the patient perspective guides our process.

By consistently pursuing our mission, we aim to foster a sense of courage and hope. As one staff member aptly pointed out recently, "Rare Disease Day should not just be one day. It should be every day for us." We believe that this attitude should apply to honoring Black Excellence as well. February gives us the chance to reflect on these important topics and endeavor to imbed the principles in our work.

Thank you for reading and be well,

Florian Eichler, MD

Human Gene and Cell Therapy In this interview, Dr. Eichler discusses the field of gene therapy and why he chose it as a career path.

Meet the Team at the CRND!

Each quarter CRND team members will be highlighted.

This month we introduce you to Dr. Amanda "Mandy" Nagy, Neurogenetics and Gene Therapy Fellow. Dr. Nagy belongs to the new generation of experienced clinicians managing gene therapy modalities. Her fellowship training experience has advanced the mission of the CRND and is inspiring to future

clinicians in the area of neurogenetics.

When she is not in clinic or learning all that she can about the field, she is enjoying time with her husband and 2-year old

daughter, Ellie.

We also welcome three new staff members

to the team in February and March!

Rick Lee

Clinical Research Coordinator

Harvard University '22

A.B. in Neuroscience

Dr. Jasna Metrovic

Postdoctoral Research Fellow

Institute of Pathology, Turin, Italy

PhD in Biomedical Sciences

and Oncology

Nicole Page

Clinical Research Coordinator

Northeastern University '23

B.S. in Biochemistry

Patient Spotlight

Meet Avery!

The following was written by Avery's mom, Caitlin Eppes.

"Avery is a fiery five year old girl, who loves her family, dogs, and Disney villains. She navigates the world in her hot pink wheelchair and will always tell you her opinion. Almost four years ago, we sat across from Avery’s geneticist as she explained the results of the Whole Exome Sequence testing – A Variant of Uncertain Significance affecting the SPTSSA gene. At the time her genetic test results were originally shared with us, she was the only person ever reported to have this variant, there was limited research on the gene, and there was no research on the variant. Her geneticist told the care team to treat the symptoms, and that she would contact us if any new research was published. Avery was an n-1.

We were looking for answers and a concrete diagnosis that didn’t exist yet, and we felt compelled to do something. We had two goals 1) to understand if the variant was the reason for Avery’s symptoms and 2) to develop a treatment to fix the variant. Time was of the essence, so we wanted to do both simultaneously. Through Dr. Brian Wishart, Avery’s physiatrist, we were introduced to Dr. Florian Eichler who was familiar with the metabolic pathway affected by Avery’s variant. Looking back, it was that moment that was the start of The Avery Project.