LIG4 syndrome is an exceptionally rare disorder caused by a genetic mutation that prevents the body from repairing damaged ...

The fatty membrane surrounding every living cell is a vibrant environment where countless biological processes take place.

Jay and Pamela both have Osteogenesis Imperfecta Type 3, a condition that causes fragile bones. Both get around in motorized ...

Study highlights use of techniques such as long-read genome sequencing, optical genome mapping, and RNA sequencing for rare disease diagnosis.

Three patients with spinal muscular atrophy had improved muscle strength and could walk farther after a month of daily spinal ...

Carissah Holland, an Owasso girl with MPS VI, underwent multiple surgeries and advocates for others while pursuing her dreams ...

Doctors told Nate and Mandy Baldry that something wasn’t quite right with their daughter, Cora Baldry, a month before she was born when their baby was measuring small and the amniotic fluid ...

Marcelo was diagnosed with Treacher Collins syndrome, a rare condition affecting facial bone structure and cartilage. The ...

In two new papers, researchers from The Jackson Laboratory (JAX) report the successful use of two approaches—gene therapy and ...

Three patients with spinal muscular atrophy had improved muscle strength and could walk farther after a month of daily spinal stimulation. Spinal stimulation restored muscles wasted by rare ...

The daughter of a Kent County sheriff’s deputy who is fighting a rare genetic disorder will benefit from this year’s Robert ...

A new study shows that long-read sequencing has the potential to improve the rate of diagnosis while reducing the time to diagnosis from years to days -- in a single test and at a much lower cost.