Research

 

We are different from past generations.  Molecular, biochemical and histologic techniques are able to tell us with greater detail than ever before about what is happening within cells and tissues.  Our laboratory is concerned with understanding the molecular processes which contribute to age-related neurodegenerative diseases, as gleaned from molecular, biochemical and pathologic analysis of human brain and spinal cord tissues.  Thus, we are developing better methods to understand neurodegenerative diseases using cutting-edge technologies across different disciplines.

Thioflavin S staining showing an amyloid plaque and neurofibrillary tangles.

Immunofluorescence of a motor neuron containing a skein-like inclusion.We change paradigms.  TDP-43 is the major component of pathologic inclusions in amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD).  TDP-43 is an RNA-binding protein which is known to regulate pre-mRNA splicing and mRNA stability.  Mutations within the gene encoding FUS, another RNA-binding protein, cause ALS, and FUS-positive inclusions are seen in rare forms of FTD.  Spinal muscular atrophy is caused by mutations in the gene encoding survival of motor neuron protein, an essential component of the spliceosome.  Intronic hexanucleotide repeat expansions in C9orf72 are the most common cause of ALS and FTD, implicating toxic RNA species in these clinically diverse yet mechanistically similar diseases. Clearly, ALS and FTD are RNA diseases.  Our laboratory is interested in the function and dysfunction of TDP-43, FUS and C9orf72, and in identifying the RNA pathways which are relevant to human disease.

We are different because scientific progress can change who we are.  Our laboratory pursues basic questions which are clinically relevant.  This requires us to return to the human disease to validate our findings and to reset our trajectory.  Thus, molecular, biochemical and histologic analysis of brain tissue is critical to our mission.

Contact Us

Translational Neuropathology
Research Laboratory
612 Stellar Chance Laboratories
422 Curie Blvd
Philadelphia, PA 19104
215-662-6696

#strikeoutALS #IceBucketChallenge

Eddie accepts the Ice Bucket Challenge

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News and Events

8/2014 - Eddie receives a Doris Duke Charitable Foundation Clinical Scientist Development Award.

7/2014 - Nabil and Maribel join TNRL. Welcome!

4/25/2014 - Elaine's paper on C9orf72 methylation is accepted for publication.

View more news and events. →