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2. Pfeiffer syndrome - Wikipedia

   en.wikipedia.org/wiki/Pfeiffer_syndrome

   Pfeiffer syndrome. Pfeiffer syndrome is a rare genetic disorder, characterized by the premature fusion of certain bones of the skull (craniosynostosis), which affects the shape of the head and face. The syndrome includes abnormalities of the hands and feet, such as wide and deviated thumbs and big toes. Pfeiffer syndrome is caused by mutations ...

3. Fibroblast growth factor receptor 1 - Wikipedia

   en.wikipedia.org/wiki/Fibroblast_growth_factor...

   View/Edit Mouse. Fibroblast growth factor receptor 1 (FGFR-1), also known as basic fibroblast growth factor receptor 1, fms-related tyrosine kinase-2 / Pfeiffer syndrome, and CD 331, is a receptor tyrosine kinase whose ligands are specific members of the fibroblast growth factor family. FGFR-1 has been shown to be associated with Pfeiffer ...

4. Jesse Gelsinger - Wikipedia

   en.wikipedia.org/wiki/Jesse_Gelsinger

   Jesse Gelsinger (June 18, 1981 – September 17, 1999) was the first person publicly identified as having died in a clinical trial for gene therapy. Gelsinger suffered from ornithine transcarbamylase deficiency, an X-linked genetic disease of the liver, the symptoms of which include an inability to metabolize ammonia – a byproduct of protein ...

5. Gene therapy for color blindness - Wikipedia

   en.wikipedia.org/wiki/Gene_therapy_for_color...

   Animal testing for gene therapy began in 2007 with a 2009 breakthrough in squirrel monkeys suggesting an imminent gene therapy in humans. While the research into gene therapy for red-green colorblindness has lagged since then, successful human trials are ongoing for achromatopsia. Congenital color vision deficiency affects upwards of 200 ...

6. Gene therapy in Parkinson's disease - Wikipedia

   en.wikipedia.org/wiki/Gene_therapy_in_Parkinson's...

   Gene therapy background. There are many new PD treatments in clinical trials and several of those are focusing on gene therapeutic approaches that compensate the loss of dopamine or protect the nervous system dopamine neurons from degeneration. There are some important reasons for focusing on gene therapy as a treatment for PD.

7. X-linked severe combined immunodeficiency - Wikipedia

   en.wikipedia.org/wiki/X-linked_severe_combined...

   Gene therapy is another treatment option which is available only for clinical trials. [34] X-linked SCID is a monogenic disorder, the IL2RG gene is mutated, so gene therapy will replace this mutated gene with a normal one. [39] This will result in a normal functioning gamma chain protein of the interleukin receptor. [35]