Pierluigi Gambetti, MD

Case Western Reserve University

Nominated by: CJD Aware!

With nearly 7,000 rare diseases known to mankind, Creutzfeldt-Jakob disease (CJD) is certainly one of the most mysterious diseases scientists have ever faced. It is a rare and fatal neurodegenerative brain disease that has puzzled researchers since the 1920s. CJD is in the family of prion diseases; these diseases occur when prion protein (which is present throughout the brain) begins to assume an abnormal three-dimensional shape. This abnormal shape affects other proteins throughout the brain, leading to damage and destruction of brain cells.

Symptoms of CJD can include: dementia and hallucinations, changes in personality and behavior, reduction in movement coordination, depression, agitation, memory loss, speech impairment, and jerky movements.

Creutzfeldt-Jakob disease is a prion disease that cannot be "destroyed" by any known method of disinfection or sterilization. There is no test for an early diagnosis, no vaccine, no treatment, and no cure.

Dr. Pierluigi Gambetti is a specialist in the study of prion disease. He is a professor of pathology and neurology at the School of Medicine at Cast Western Reserve University (CWRU) in Cleveland, Ohio. He is also the director of the National Prion Disease Pathology Surveillance Center (NPDPSC), which was established in 1997 and is located on the CWRU campus.

According to the NPDPSC's website, some of the research being carried on there includes: cases of prion disease received by the NPDPSC are examined individually and in aggregate with the aim of timely detecting new or atypical cases and establishing more accurate classifications of prion disease; study of prion diseases in animals that potentially may transmit the disease to humans, such as chronic wasting disease (CWD), and bovine spongiform encephalopathy (BSE); and development or adaptation of more advanced diagnostic tools to detect human prior diseases.

For more than 15 years, Dr. Gambetti has been acknowledged as one of the foremost researchers of prion-related diseases. Thanks to a grant awarded in 2007 by the CDC and NIH, the Center will be able to continue important work in research on human forms of "mad cow" and other prion diseases. Creutzfeldt-Jakob disease is a challenge for any scientist and Dr. Pierluigi Gambetti has accepted that challenge.