{"id":195914,"date":"2023-02-28T08:51:51","date_gmt":"2023-02-28T13:51:51","guid":{"rendered":"https:\/\/today.uconn.edu\/?p=195914"},"modified":"2023-02-28T09:15:46","modified_gmt":"2023-02-28T14:15:46","slug":"shining-light-on-rare-diseases-and-research-krabbe-disease","status":"publish","type":"post","link":"https:\/\/today.uconn.edu\/2023\/02\/shining-light-on-rare-diseases-and-research-krabbe-disease\/","title":{"rendered":"Shining Light on Rare Diseases and Research: Krabbe Disease"},"content":{"rendered":"

February 28 marks Rare Disease Day. UConn Health\u2019s campus is lighting up this week to raise awareness of the more than 7,000 rare diseases and the importance of advancing research for them to find promising therapies and potential cures for patients.<\/p>\n

One of the many incurable rare diseases is debilitating and deadly Krabbe Disease.<\/p>\n

\"Stephen
Stephen J. Crocker, Ph.D. of UConn School of Medicine.<\/figcaption><\/figure>\n

UConn School of Medicine\u2019s Stephen J. Crocker, Ph.D.<\/a>, associate professor of neuroscience and immunology, has been awarded an NIH grant to gain greater insights into the genesis of the rare disease globoid cell leukodystrophy (GLD), also known as Krabbe disease.<\/p>\n

\u201cBecause Krabbe disease is rare, most people have never heard of it,\u201d says Crocker. \u201cThe disease\u2019s development in the brain seems to be entirely spontaneous.\u201d<\/p>\n

This incurable genetic disease of the central nervous system causes profound white matter loss in the brain (demyelination), neurodegeneration and inflammation. More than one hundred years ago Danish neurologist Knud Krabbe first identified the disease in several infants in 1916. The often-fatal Krabbe disease affects 1 in 100,000 people, most often presenting in infants but can also have late onset in adults too.<\/p>\n

Sadly, most parents are not aware their child has Krabbe disease until their child experiences the disease\u2019s striking symptoms.<\/p>\n

Krabbe symptoms include:<\/p>\n