UPenn Orphan Disease Grant, Dr. Albert Misko, MGH
We are delighted that the latest UPenn Orphan Disease funding recipient is Dr. Albert Misko, pediatric neurologist at Massachusetts General Hospital. Dr. Misko is vigorous in his desire to document MLIV disease in patients, whether in his clinic at MGH or by traveling to see those unable to go to Boston.
His goal is to conduct neurological evaluation of as many MLIV patients as possible, in collaboration with Dr. Anne Fulton (pediatric retinal expert, Boston Children's Hospital). This unique collaboration, which involves neurological and ocular clinical examinations as well as sedated ocular imaging, brings together for the first time top scientists interested in understanding essential brain and eye aspects of the disease.
The FDA has explained that creating this kind of documentation of the disease in the patients is essential as part of a treatment-approvals strategy. As we grow closer to clinical trials of gene therapy and drug therapy, we are thrilled to work with doctors as committed to rare children as Dr. Misko and Dr. Fulton.
The UPenn Orphan Disease Center sponsors a Dollar for Dollar match every year: we raise $25,000 and they give us a grant for $50,000 to support Dr. Misko and researchers like him! Want to help us? Go to
Every dollar matters--twice!