Apr 22, 2021 · 2 min read

Why These 2 Scientists Are Teaming Up To Study, Treat & Prevent Rare Pediatric Diseases


Neurodegenerative diseases, like Alzheimer’s, Parkinson’s, ALS, and Huntington’s Disease, are on the rise worldwide. Yet, there are no effective therapies to cure, prevent, or treat most of these disorders.

To make progress, we launched the Neurodegeneration Challenge Network (NDCN) — bringing together experimental scientists from diverse research fields, along with computational biologists and physicians, to look at this problem across diseases.

Read how this effort is taking shape through the story of Rebecca and Elizabeth — a pair of NDCN researchers working together to treat and prevent rare neurodegenerative diseases that impact children.

Illustration of a newborn baby patient with medical sensors and tubes on his body.

The baby was born healthy. But two hours later, his heart rate and oxygen levels dropped.
No one knew what was wrong with him.

Illustration of two female physician scientists wearing medical scrubs and holding clipboards.

We met him while residents. We were two physician-scientists in training: friends, with children who attended each other’s birthday and Halloween parties.

Illustration of the newborn baby patient with pH level marker and DNA double helix symbols.

His was the first case we solved together. We discovered that he had a rare disease.
A small change to his DNA had acidified his blood.

Illustration of two scientists, one is holding a test tube and the other is looking at numerical data.

Afterwards, we both went on to study rare pediatric diseases. Rebecca became an expert in metabolics: the food-fueled chemical reactions that keep our bodies running. Elizabeth specialized in genetics, identifying mutations that cause anatomical problems in children.

Illustration of two women sitting together and talking while drinking from mugs and eating nachos.

We each opened up our own labs, right next to each other. We bounced ideas off each other.
In texts. With coffee and tea. Over lots of nachos.

Illustration of four children’s faces set over a depiction of the earth.

Now we’ve officially teamed up again. As participants in CZI’s Neurodegeneration Challenge Network Collaborative Pairs program, we’re combining our skill sets and tracking down 100 kids with rare neurological diseases across the world.

Illustration of the back side of a child’s head while the child draws a picture of stick figure people.

Our goal, like that of our colleagues across the NDCN,  is to find out what is going on in each case. To help, if possible. And to break new scientific ground that could help us understand a broad range of neurological diseases, in the young and the old.

Illustration of two scientists standing together surrounded by outlines of other scientists, physicians and children.

This project is built on collaboration: With physicians who bring us their toughest cases, with scientists who share their expertise, and between two friends excited to finally be working together again.

Learn more about how the NDCN empowers scientists to pursue bold ideas in order to accelerate the science of neurodegeneration — and ultimately, the path to treatments.

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