Genetic Therapy

Publication Title: 
JAMA neurology

Importance: Muscle weakness, the most common symptom of neuromuscular disease, may result from muscle dysfunction or may be caused indirectly by neuronal and neuromuscular junction abnormalities. To date, more than 780 monogenic neuromuscular diseases, linked to 417 different genes, have been identified in humans.

Long, Chengzu
Amoasii, Leonela
Bassel-Duby, Rhonda
Olson, Eric N.
Publication Title: 
Aging Cell

A major challenge in current research into aging using model organisms is to establish whether different treatments resulting in slowed aging involve common or distinct mechanisms. Such treatments include gene mutation, dietary restriction (DR), and manipulation of reproduction, gonadal signals and temperature. The principal method used to determine whether these treatments act through common mechanisms is to compare the magnitude of the effect on aging of each treatment separately with that when two are applied simultaneously.

Gems, David
Pletcher, Scott
Partridge, Linda
Publication Title: 
Vascular and Endovascular Surgery

The mainstay of treatment for long-segment small-vessel chronic occlusive disease not amenable to endovascular intervention remains surgical bypass grafting using autologous vein. The procedure is largely successful and the immediate operative results almost always favorable. However, the lifespan of a given vein graft is highly variable, and less than 50% will remain primarily patent after 5 years.

Chandiwal, Amito
Balasubramanian, Viji
Baldwin, Zachary K.
Conte, Michael S.
Schwartz, Lewis B.
Publication Title: 
Aging Cell

Dyskeratosis congenita (DC), an inherited bone marrow failure syndrome, is caused by defects in telomerase. Somatic cells from DC patients have shortened telomeres and clinical symptoms are most pronounced in organs with a high cell turnover, including those involved in hematopoiesis and skin function. We previously identified an autosomal dominant (AD) form of DC that is caused by mutations in the telomerase RNA component (TER).

Westin, Erik R.
Chavez, Elizabeth
Lee, Kimberly M.
Gourronc, Francoise A.
Riley, Soraya
Lansdorp, Peter M.
Goldman, Frederick D.
Klingelhutz, Aloysius J.
Publication Title: 

STUDY DESIGN: Nonviral transfection of nucleus pulposus cells with a telomerase expression construct to assess the effects on cellular lifespan, function, karyotypic stability, and transformation properties. OBJECTIVES: To investigate whether telomerase gene therapy can extend the cellular lifespan while retaining functionality of nucleus pulposus cells in a safe manner. SUMMARY OF BACKGROUND DATA: Degeneration of the intervertebral disc is an age-related condition in which cells responsible for the maintenance and health of the disc deteriorate with age.

Chung, Sylvia A.
Wei, Ai Qun
Connor, David E.
Webb, Graham C.
Molloy, Timothy
Pajic, Marina
Diwan, Ashish D.
Publication Title: 
Molecular Therapy: The Journal of the American Society of Gene Therapy

Methylmalonic acidemia (MMA) is an organic acidemia caused by deficient activity of the mitochondrial enzyme methylmalonyl-CoA mutase (MUT). This disorder is associated with lethal metabolic instability and carries a poor prognosis for long-term survival. A murine model of MMA that replicates a severe clinical phenotype was used to examine the efficacy of recombinant adeno-associated virus (rAAV) serotype 8 gene therapy as a treatment for MMA.

Chandler, Randy J.
Venditti, Charles P.
Publication Title: 
Methods in Molecular Biology (Clifton, N.J.)

Intrauterine gene therapy (IUGT) potentially enables the treatment and possible cure of monogenic -diseases that cause severe fetal damage. The main benefits of this approach will be the ability to correct the disorder before the onset of irreversible pathology and inducing central immune tolerance to the vector and transgene if treatment is instituted in early gestation.

Mattar, Citra N.
Biswas, Arijit
Choolani, Mahesh
Chan, Jerry K. Y.
Publication Title: 
Molecular Therapy: The Journal of the American Society of Gene Therapy

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by the progressive loss of motor neurons in the brain and spinal cord. We have recently shown that human mesenchymal stem cells (hMSCs) modified to release glial cell line-derived neurotrophic factor (GDNF) decrease disease progression in a rat model of ALS when delivered to skeletal muscle. In the current study, we determined whether or not this effect could be enhanced by delivering GDNF in concert with other trophic factors.

Krakora, Dan
Mulcrone, Patrick
Meyer, Michael
Lewis, Christina
Bernau, Ksenija
Gowing, Genevieve
Zimprich, Chad
Aebischer, Patrick
Svendsen, Clive N.
Suzuki, Masatoshi
Publication Title: 
Cowley, G.
Publication Title: 
Expert Opinion on Biological Therapy

Age-related macular degeneration (AMD) has emerged as the dominant cause of irretrievable visual loss in most developed countries achieving increasing longevity. The major cause of rapid and severe visual loss is the development of choroidal neovascularisation under the macula (exudative or wet AMD).

Constable, Ian
Shen, Wei-Yong
Rakoczy, Elizabeth


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