Each February, the rare disease community comes together and celebrates Rare Disease Month to raise awareness about rare diseases, their impact on patients’ lives, and the urgent need to find treatments and cures. Rare Disease Month culminates in Rare Disease Day on the last day of February — the rarest day of the year.

This year, we’re reflecting on the progress our grantees in the Rare As One Network have made to accelerate research — despite facing significant challenges brought on by the COVID-19 pandemic — and our learnings along the way. …

For a scientist destined to earn renown for her skill in creating biostatistical tools and extracting meaning from large datasets, Katherine Pollard’s initial impulses toward the study of math were somewhat conflicted: “I wasn’t sure I saw myself as a math major, until a professor convinced me to think about it,” she says of her first collegiate year.

By graduation, she had arrived at a happy medium between numbers and her interest in human physiology and evolution: a double major in mathematics and anthropology. …

The formation of the reproductive system starts in the embryo, when cells that will eventually form the ovaries, fallopian tubes, and uterus divide and differentiate, ultimately developing into a system capable of perpetuating life. That system changes monthly and also over a lifetime, undergoing major transitions at puberty and menopause.

Researchers supported by the Chan Zuckerberg Initiative’s Seed Networks for the Human Cell Atlas (HCA) program are mapping that journey, cell by cell, across the female reproductive system — from the earliest stages of human development to old age. …

Scientific imaging is vital to understanding health and disease. Imaging technology allows researchers to study the building blocks of life — tissues, cells and proteins — and unlock new knowledge about how to prevent disease. To make big breakthroughs in biomedical science, we need to keep advancing tools that scientists use to see life across these scales.

CZI’s Imaging program supports biologists and technology experts, improved imaging tools and expanded access to these tools, and increased training and community building. We’re pushing the frontiers of imaging by supporting 13 new cutting-edge imaging technologies that will allow researchers to view the…

We are all familiar with changes early in life — those that are easily seen and others that are more difficult to detect or pinpoint. Growth charts show our bones getting longer, our immune system is trained via vaccination or exposure to diseases like chickenpox, many of us have allergies that then mysteriously subside as we grow, and puberty induces changes in our hormones and with it, changes in many organ systems. The processes are clear, as well as many diseases associated with them, but the cell types and how these cell types arise and change throughout these processes are…

CZI’s imaging team wants to help all researchers measure, visualize, and quantify the biological processes underlying health and disease. To reach this goal, we work closely with the scientific community to understand what holds them back and collaborate to improve current systems. CZI supports imaging scientists that increase collaboration between biologists and technology experts, software fellows that maintain critical software tools, biologists who use imaging, and disruptive imaging technologies that will improve our mechanistic understanding of health and disease.

We heard from the scientific community about challenges using bioimaging software — tools that help researchers draw insights from the images…

The maintenance of scientific open source software is unlike scientific papers or other traditional forms of research outputs. Scientific papers don’t incur additional costs or labor to the authors the more they are used or cited. In contrast, the most mature scientific tools and software libraries become increasingly more challenging to maintain the larger their user base.

“Code, while it’s being traded, appraised, or exchanged, assumes its static form, with all the properties that we’d expect of a commodity. But once it finds users, code springs to life, switching to an active state and incurring hidden costs.” …

In 2017, the University of Massachusetts Amherst’s Information Extraction and Synthesis Laboratory (IESL) was awarded the Computable Knowledge grant. In partnership with CZI’s Meta team, this work advanced state-of-the-art technology to extract knowledge from scientific publications to explore new ways to construct and reason over scientific knowledge bases.

Biomedical research papers are published at a staggering rate. Every day, more than 4,000 new papers are posted to services such as PubMed and bioRxiv. Amidst the current coronavirus pandemic, the world is more aware than ever of the need to accelerate scientific progress. …