Lorenzo Puri, MD

IRCCS Fondazione Santa Lucia

Dr. Lorenzo Puri is Lab Director at IRCCS Fondazione Santa Lucia.

Research Projects

Registration Portal

Please fill out the information below to allow your genetic data to be shared with the Jain Foundation.

Use the number given to you as part of the Myo-Seq program

CSF-1 and IL-34 Potential Therapeutic Targets and Biomarkers for Dysferlinopathy

Objective: 
Objective: To determine whether CSF-1 and IL-34 are promising therapeutic targets and predictive biomarkers for patients with dysferlinopathy.

Macrophages are prominent in human and mouse models of dysferlinopathy. Our preliminary data indicates that macrophages that home and accumulate in muscles are promoting muscle injury and destruction. Thus, strategies that eliminate these muscle homing injurious macrophages will undoubtedly thwart intra-muscle destructive inflammation. CSF-1 and IL-34 are principle growth factors for macrophages. We will probe for CSF-1 and IL-34 expression in muscles of patients with dysferlinopathy.

Research

Application of Rosetta and Foldit for Structural Modeling of DYSF

Autosomal recessive mutations in the human gene encoding the dysferlin protein (DYSF) are the cause of rare forms of muscular dystrophies known as dysferlinopathies, and more specifically, as limb girdle muscular dystrophy type 2B (LGMD2B) or Miyoshi myopathy (MM).  Dysferlin is a 237 kDa type II transmembrane skeletal muscle protein associated with the sarcolemma, where its function appears to be required for efficient muscle contraction and muscle membrane repair.

Research

David Baker, PhD

University of Washington (Seattle, Washington)

David Baker, PhD is the Head of the Institute for Protein Design and a Professor of Biochemistry at the University of Washington (Seattle, Washington)

Research Projects

Shafeeq S. Ladha, MD

Ira A. and Mary Lou Fulton Chair in Motor Neuron Diseases 
Director, Gregory W. Fulton ALS and Neuromuscular Disorders Center, Barrow Neurological Institute
Associate Professor of Neurology, University of Arizona
240 W. Thomas Rd.
Suite 400
Phoenix, AZ 85013
Telephone: (602)-406-6262
Email: Ladha@thebni.org

State: 
Arizona
Country: 
US
Country Name for Alph: 
United States

Participant 4

Why did you enroll?  I enrolled in the study because they were looking for study participants, with very specific criteria.   I know that there aren't very many people with my type of dystrophy, in the general population, and I wanted to help future Miyoshi patents, if not myself to test out future therapies.  It's not a lot of fun, but, without patients to study, they can only model different theories without any data to find out for sure.  I hope my small part, can help, with their research for a cure. 

Participant 3

Why did you enroll? I chose to take part in Dr. Zimmerberg’s research for the “greater good” and an unanticipated benefit is I’m learning an amazing amount of detail about my overall health, LGMD, and how the disease is affecting me. 

 

Pages