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.
CELL & SYSTEMS BIOLOGY
THERAPY DESIGN & DEVELOPMENT
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 Baylor Genetics or EGL Genetics.