New Genomic Method for Diagnosis of Rare Genetic Diseases

A team of scientists has developed a new genomic method to detect the cause of rare genetic diseases . The method, called Analysis of expression Variation-Dosage Outlier Test, and abbreviated as ANEVA-DOT, makes use of gene transcription data to detect differences in the activity levels of maternal and paternal alleles of genes, which people acquire from their parents. It compares activity levels of maternal and paternal alleles across the genome and detects when the activity of an allele goes beyond the normal range to become a viable cause of a certain disease. Usually, many rare genetic diseases develop from DNA mutations that affect only a single allele of a gene. The method uses the calculation of a healthy range of differences in maternal allele and paternal allele activity for every gene from gene transcription data. Thus, it can be used to identify genes with abnormal expression levels in alleles. Typically, standard methods of sequencing genes and their transcripts are

Antibodies based eye drops show Promising Effectiveness in dry eye disease

In a first, researchers at the University of Illinois have identified the presence of a specific type of antibody, called APCA (anti-citrullinated protein autoantibodies) in human tear fluid. They demonstrated that eye drop treatment made from pooled human antibodies reduced the severity of the disease condition in patients with dry eye disease. Dry eye disease is developed from the abnormalities in the tear fluid and causes dryness surrounding the areas cover the cornea, the transparent outer layer of the eye which can lead to cause sensitivity to light and compromise the vision of the patient. In this study, researchers identified ACPAs as a contributor to the development of webs on the surface of eyes affected by severe dry eye disease, which are developed from the strands of DNA extrude of neutrophils and ultimately cause inflammation. The researchers called these webs as a “vicious cycle of inflammation”. The eye drops treat dry eye disease by partially knocking the immune

Application of AI in prediction of possible Drug-Drug interactions

In a recent study, researchers have designed an algorithm using artificial intelligence approach that may be able to alert patients and medical professionals about the possible side effects of Drug-Drug interactions that might occur due to the combination of multiple drugs.     To create this alert system, researchers used an autoencoder model, which is basically a type of artificial neural network that is designed on how the human brain processes information. This model is capable of processing both unlabeled and labeled data. Traditionally, programmers need to label data from millions of different combinations of possible interactions to produce the result.   Analysis of Drug-Drug interactions followed by adverse reactions are significant in case of clinical perspective as general patients are prescribed multiple drugs for different disease conditions.   The more medication a patient takes, the greater is the possibility of drug-drug interactions and ultimately negative sid

FDA awards grants for Clinical Trials on Rare Diseases

The U.S Food and Drug Administration on October 8, 2019, announced a total of 12 new grants amounting to a total of more than $15 million which will be distributed over the next 4 years to perform the Clinical Trials on Rare diseases.  The grant will be used to facilitate the clinical development of drugs, biologics, medical   devices and medical foods for the treatment of rare diseases that include Duchenne Muscular Dystrophy, sickle cell disease, Fanconi anemia and some others. These grants were awarded to the principal investigators from academics and industry across the country through the Orphan Products ClinicalTrials Grants Program of FDA. These approved grants are mainly focused on the advancement of the product development to meet the need of patients suffering from various rare diseases, with emphasis on those affecting children and cancers. These newly awarded grants are intended to accelerate the clinical approval of products for effective and efficient treatment of

Announcement: Euro Pharma 2020

The Pharmaceutical industry over the years has been changing rapidly with the advent of various technologies. This has indeed helped us in coming up with some of the great healthcare solutions for the current and future generations. However, at this pace of the research and development, it becomes essential for researchers and industries to share their research findings to prevent the process of spinning the wheel again and also to address the challenges encountered during the process. We at the Euro Pharma series of events, try together the subject experts to tackle these issues to provide better healthcare services for the future generation. After successfully hosting the 3 rd series of the Europharma event in Rome, Italy, we are glad to announce that the next event, “4 th World Congress on Pharma and Pharmaceutical Sciences” is now scheduled to be held at Frankfurt, Germany on March 16-17, 2020. The event is planned around the theme of Shaping the Future of Healt