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The Sun Never
Sets on the
Grace Science Foundation

APPROACH

Doing more with less.

The impact of rare disease is anything but small. There are over 7,000 known rare diseases affecting an estimated 350 million people worldwide — more than the number of cancer and AIDS patients combined. And the innovations resulting from rare disease research — Penicillin, X Rays, Insulin and the Smallpox vaccine to name just a few — have benefitted all of humankind. Yet traditional methods of research simply aren’t set up to find fast, cost-effective cures for rare diseases.

To solve this problem, we developed a new method for rare disease research. We modeled this approach after that of a startup, which is designed to make the most impact in the shortest period of time and with limited resources.

Move fast and share everything.

We do everything we can to reduce the barriers to research discoveries. That starts with assembling a team of experts from every corner of science and medicine. Through expedited and strategic funding, we clear the path so that these experts can focus on their research. The discoveries made by each researcher are then shared with the rest of the team. In this open and collaborative environment, researchers are encouraged to iterate and build on the work of others. In this way, research accelerates, more breakthroughs are made and more patients suffering from rare disease are brought that much closer to treatments and cures.

Animal Models

Dr. Antonio Galeone

Baylor College of Medicine

Seung-Yeop Han

Baylor College of Medicine

Dr. Hamed Jafar-Nejad

Baylor College of Medicine

Dr. Orsolya Kiraly

The Jackson Laboratory

Dr. Cathleen Lutz

The Jackson Laboratory

Dr. Lorin Roiphe

The Jackson Laboratory

Dr. Aamir Zuberi

The Jackson Laboratory

Cell & Systems Biology

Dr. Charlie Boone

University of Toronto

Sandra Clauder-Munster

European Molecular Biology Laboratory

Dr. Tina Cowan

Stanford University

Dr. Saiful Islam

Stanford University

Petra Jakob

European Molecular Biology Laboratory

Dr. Nicolas Lehrbach

Massachusetts General Hospital

Dr. Jason Moffat

University of Toronto

Dr. Tereza Moore

Stanford University

Dr. William Francis Mueller

European Molecular Biology Laboratory

Michelle Nguyen

Stanford University

Dr. Senthil Radhakrishnan

Virginia Commonwealth University

Dr. Gary Ruvkun

Massachusetts General Hospital

Dr. Ashwin Seetharaman

University of Toronto

Dr. Lars Steinmetz

Stanford University & European Molecular Biology Laboratory

Karen Tessmer

European Molecular Biology Laboratory

Dr. Janakiram Reddy Vangala

Virginia Commonwealth University

Dr. Wu Wei

Stanford University

Dr. Nan Yan

University of Texas Southwestern

Chemistry

Dr. Brendan Beahm

Stanford University

Dr. Carolyn Bertozzi

Stanford University

Ian Blong

Stanford University

Dr. CJ Cambier

Stanford University

Dr. Ryan Flynn

Stanford University

Dr. Ulla Gerling-Driessen

Stanford University

Fred Tomlin

Stanford University

Clinical Studies & Genomics

Dr. Atul Butte

University of California, San Francisco

Dr. Lulu Cao

Stanford University

Dr. Greg Enns

Stanford University

Dr. Richard Gibbs

Baylor College of Medicine

Dr. David Marciano

Stanford University

Dr. Michael Snyder

Stanford University

Stem Cells

Dr. Jessica Donnelly

Baylor College of Medicine

Dr. Rusty Gage

The Salk Institute

Dr. Carol Marchetto

The Salk Institute

Dr. Noah Shroyer

Baylor College of Medicine

Dr. Deepak Srivastava

Gladstone Institutes

Dr. Gavin Wang

Stanford University

Dr. Shinya Yamanaka

Gladstone Institutes

Therapy Design & Development

Dr. Alireza Baradaran-Heravi

University of British Columbia

Blake Borgeson

Recursion Pharmaceuticals

Dr. Chadwick Davis

Recursion Pharmaceuticals

Dr. Guangping Gao

University of Massachusetts

Dr. Chris Gibson

Recursion Pharmaceuticals

Dr. Han Han

Recursion Pharmaceuticals

Dr. Paul Helquist

University of Notre Dame

Dr. Mark Kay

Stanford University

Dr. Haining Liu

University of Notre Dame

Dr. Bruce Melancon

University of Notre Dame

Dr. Gaelle Mercenne

Recursion Pharmaceuticals

Dr. Michel Roberge

University of British Columbia

Dr. Anthony Serianni

University of Notre Dame

Dr. Rich Taylor

University of Notre Dame

Mason Victors

Recursion Pharmaceuticals

Dr. Dan Wang

University of Massachusetts

Dr. Olaf Wiest

University of Notre Dame

WHAT IS NGLY1 DEFICIENCY?

One gene changes everything.

NGLY1 is just one of the approximately 20,000 genes every person inherits from his or her parents. Each gene is like a set of instructions that tells a cell how to create a protein.

Proteins help us do everything from digest food to process oxygen, and often need sugar to work. But they also need a way to get rid of the sugar.

NGLY1 carries the instructions for how proteins get rid of sugar. When people inherit two defective NGLY1 genes from their parents, proteins in their bodies can’t remove excess sugar. And that causes serious problems.

People born with NGLY1 Deficiency face a lifetime of debilitating and isolating symptoms.

These can include:

  • Global Developmental Delay
  • Life-threatening Liver Issues
  • Seizures
  • Brain Wave Abnormalities
  • Small Head (microcephaly)
  • Tremors
  • Eyes Wandering in Different Directions (strabismus)
  • Chronic Constipation
  • Lack of Tears When Crying (alacrima)
  • Floppy Body (hypotonia)

THINK YOUR CHILD MIGHT HAVE NGLY1 DEFICIENCY?

NGLY1 Deficiency is often misdiagnosed as Rett syndrome or mitochondrial diseases. If a doctor thinks your child has one of these conditions but cannot find the root genetic cause, please suggest sequencing NGLY1. Find more information and get help with sequencing by contacting Emory Genetics Laboratory or Baylor College of Medicine.

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