A patient and family perspective on gene therapy for rare diseases.

نویسندگان

  • Alastair Kent
  • Cor Oosterwijk
چکیده

The authors describe the view of patients and patient organisations on gene therapy research and gene therapy regulations. In particular, the added value of partnership between scientists and patient organisations, and patient involvement in the gene therapy field, are addressed.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Current Diagnostic Status of Pheochromocytomaand Future Perspective: A Mini Review

Pheochromocytomas (PCCs) are rare neuroendocrine tumors. The current diagnostic tools are based on biochemistry and histopathology results, but heterogeneity of diagnostic markers, signs and symptoms of PCCs bring a lot of difficulties for these two current methods. Unfortunately microscopic understanding of PCCs is not adequate for its confident prognosis and management. There are data linking...

متن کامل

Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report

Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in the MECP2 gene, which is located on the X chromosome. However, this syndrome has also been associated with microdeletions, gene translocations...

متن کامل

Syndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report

Mutations in the AHDC1 gene are associated with the Xia-Gibbs syndrome (XGS), a sporadic genetic disorder characterised by developmental delay, intellectual disability, hypotonia, obstructive sleep apnoea, dysmorphic facial features, and cerebral malformations with plagiocephaly. Here we report the case of a 13-year-old Colombian female patient with a history of developmental delay, speech dela...

متن کامل

مبانی فقهی ـ حقوقی مشروعیت ژن‌درمانی در ادیان توحیدی

Religious scholars were among the first to address the challenges of genetic science. In this regard, religious institutions from the beginning has debate on moral and religious challenges of gene therapy. Because public acceptance towards gene therapy is largely rooted in religious beliefs, Religious doctrine undoubtedly play a key role in shaping public attitudes and policy about gene therapy...

متن کامل

A New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy

Pompe disease (PD), also known as “glycogen storage disease type II (OMIM # 232300)” is a rare autosomal recessive disorder characterized by progressive glycogen accumulation in cellular lysosomes. It ultimately leads to cellular damage. Infantile-onset Pompe disease (IOPD) is the most severe type of this disease and is characterized by severe hypertrophic cardiomyopathy and generalized hypoton...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • The journal of gene medicine

دوره 9 10  شماره 

صفحات  -

تاریخ انتشار 2007