Genetic Disorder

News Genetic Disorder

• BUSM study reveals novel mechanism by which UVA contributes to photoaging of skin

  A study conducted by researchers at Boston University School of Medicine (BUSM) provides new evidence that longwave ultraviolet light (UVA) induces a protein that could result in premature skin aging. The findings demonstrate that aspects of photoaging, the process of skin aging by chronic exposure more

• Novartis drug Afinitor approved by FDA as first medication for children and adults with a benign brain tumor

  Novartis announced, that the US Food and Drug Administration (FDA) has approved Afinitor® (everolimus) tablets for patients with subependymal giant cell astrocytoma (SEGA), a benign brain tumor associated with tuberous sclerosis (TS), who require therapeutic intervention but are not candidates for c more

• HSAN 1: identification of new mutations can lead to more accurate diagnosis and improved genetic counseling

  VIB researchers at the University of Antwerp have identified several mutations that play an important role in the development of Hereditary Sensory and Autonomous Neuropathy Type 1 (HSAN 1). HSAN 1 is a rare genetic disorder of the peripheral nervous system. Identification of the mutations will lead more

Publications Genetic Disorder

• Reciprocal translocations in myelodysplastic syndromes and chronic myelomonocytic leukemias: Review of 5,654 patients with an evaluable karyotype

  The infrequency of translocations in myelodysplastic syndromes (MDS) and chronic myelomonocytic leukemias (CMML) makes their identification and reporting interesting for the recognition of the recurrent ones and the genes involved in these neoplasias. The aims of this study were to identify new tr more

• Fetal aneuploidy detection by maternal plasma DNA sequencing: a technology assessment

  ABSTRACT The American College of Obstetricians and Gynecologists currently recommends that all pregnant women be offered screening for chromosomal abnormalities, regardless of maternal age. Traditional screening tests have detection rates ranging from 85% to 90% and false‐positive rates of 3% to more

• Mosaic Isochromosome 15q and Maternal Uniparental Isodisomy for Chromosome 15 in a Patient With Morbid Obesity and Variant PWS‐Like Phenotype

  Abstract Angelman and Prader–Willi syndromes are reciprocal imprinting disorders caused by loss of maternally or paternally expressed genes, respectively, within 15q11.2–q13. Angelman syndrome (AS; OMIM 105830) is a neurodevelopmental disorder and is due to the loss of maternally expressed UBE3 more

Market studies Genetic Disorder

• Orphan Disease Therapeutics in Genetic Disorders to 2018 - Emerging Agents in Cystic Fibrosis Offer Strong Opportunities for Investment and Licensing Activity

  GBI Research, the leading business intelligence provider, has released its latest research, “Orphan Disease Therapeutics in Genetic Disorders to 2018 - Emerging Agents in Cystic Fibrosis Offer Strong Opportunities for Investment and Licensing Activity”, which provides insights into the global orphan more

• Macrogen Incorporation (038290) - Financial and Strategic SWOT Analysis Review

  Macrogen Incorporation (Macrogen) is engaged in providing customized transgenic and other services in the biomedical research. The company operates its business under five divisions, namely, Sequencing, Biochip, Transgenic and Knockout Mouse, Lentiviral Vector, and Bioinformatics. Macrogen develops more

• Protalix BioTherapeutics, Inc. (PLX) - Financial and Strategic SWOT Analysis Review

  Protalix BioTherapeutics, Inc. (Protalix) is a publicly held biopharmaceutical company. It is engaged in the development and supplying of recombinant therapeutic proteins based on its proprietary production system, ProCellEx (protein expression system). Protalix is focused on therapeutic proteins fo more

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