Our Impact

Developing a revolutionary protocol for patient-individualized treatments for rare disease

About 175 million children worldwide suffer from a rare disease—conditions that will kill 30% of them before age 5. But while in aggregate there are millions of children affected, each individual disease is extremely rare, stretching scientific resources thin and slowing searches for cures. Timothy Yu, MD, PhD, believes he has found a way to treat many of these children: building a system to deliver tailored genetic treatments using synthetic strands of genetic material called antisense oligonucleotides (ASOs).

Dr. Yu’s breakthrough uses an ASO to compensate for a mutated gene that is causing the disease. Here’s how it works: by sequencing the genome of a child with a rare disease, researchers can pinpoint the specific genetic mutation responsible for the condition. Depending on the disease, these mutations can have different impacts. Sometimes, they will cause a gene to go “haywire”—creating a corrupted version of the gene that actively interferes with normal function. In other cases, the mutation will cause the gene’s instruction set to be improperly “spliced” (assembled) and therefore nonfunctional. In these cases, it can be possible to develop an ASO (a synthetic strand of RNA) that will correct the gene defect—either by binding to and “silencing” the corrupted gene, or by correcting its assembly. In this fashion, the therapy restores proper gene function. Dr. Yu has already performed this life-saving approach once, halting the progression of Batten’s Disease, a deadly disorder, in a 6-year-old child. He did so by convincing the FDA to approve a revolutionary clinical trial of one—a true precision medicine approach that treated one specific child with a genetic therapy specifically keyed to her exact mutation.

With the support of the Boston Investment Conference, Dr. Yu would like to take this proof of principle forward and replicate this project for dozens of other children affected by rare diseases treatable by ASO therapy. His hope is that the trials will be so successful that other institutions will be inspired to follow our lead and reach thousands of more children around the world.


Timothy W. Yu, MD, PhD Attending Physician, Division of Genetics and Genomics, Boston Children’s Hospital
Timothy W. Yu, MD, PhD Attending Physician, Division of Genetics and Genomics, Boston Children’s Hospital; Assistant Professor in Pediatrics, Harvard Medical School