• Trophos
  • Trophos was a biopharmaceutical company specialising in the discovery and development of novel therapeutics to treat both orphan neurodegenerative diseases and more prevalent disorders. (wikipedia.org)
  • mutations
  • The first relies on its mechanism of action, or how the action of the diseases affects normal functioning (whether it is through mutations in genes or more direct pathways such as poisoning). (wikipedia.org)
  • Flightless fruit flies (Order Diptera) encompasses a variety of different species of fly, such as Drosophila melanogaster, Bactrocera cucurbitae, Bactrocera dorsalis, and Drosophila hydei, with genetic mutations that cause them to be flightless. (wikipedia.org)
  • molecular
  • As new genes are found that may be linked to ALS in families or individuals, the investigators can then further study how that gene may be contributing to the disease by studying it down to the protein and molecular level. (clinicaltrials.gov)
  • symptoms
  • Males In males the symptoms of Danon Disease are more severe. (wikipedia.org)
  • Symptoms are usually gradually progressive Some individuals may have visual disturbances, and/or retinal pigment abnormalities Danon Disease is rare and unfamiliar to most physicians. (wikipedia.org)
  • Common symptoms of Danon Disease in females are: A later age of onset of symptoms. (wikipedia.org)
  • The milder and more subtle symptoms in females can make it more difficult to diagnose females with Danon Disease It is associated with LAMP2. (wikipedia.org)
  • Danon Disease has overlapping symptoms with another rare genetic condition called 'Pompe' disease. (wikipedia.org)
  • gene
  • This year event will be led by scientists and clinicians researching, developing and testing new treatments for genetically inherited and acquired diseases using gene delivery technology, stem cell manipulation and DNA repair techniques. (smi-online.co.uk)
  • Fazio-Londe disease is linked to a genetic mutation in the SLC52A3 gene on chromosome 20 (locus: 20p13). (wikipedia.org)
  • carriers
  • In 1969, Dr Zatz started her work in genetic counseling in families which were carriers of neuromuscular diseases, in order to evaluate as well as to inform the risk of having offspring with a similar problem. (wikipedia.org)
  • as published in Al-Bayan newspaper in 20 February 2016 making this family the largest one with patients and carriers of Danon disease. (wikipedia.org)
  • onset
  • Features of Danon Disease in males are: An early age of onset of muscle weakness and heart disease (onset in childhood or adolescence) Some learning problems or intellectual disability can be present Muscle weakness can be severe and can affect endurance and the ability to walk Heart disease (cardiomyopathy) can be severe and can lead to a need for medications. (wikipedia.org)
  • progression
  • The severity and progression of the disease varies from person to person, life expectancy ranges from early childhood to adulthood. (roche.com)
  • cardiovascular
  • Prior to joining Selecta, Dr. Kishimoto was Vice President of Research at Momenta Pharmaceuticals where he led multidisciplinary teams in inflammation, oncology, and cardiovascular disease. (smi-online.co.uk)
  • Cardiovascular Genetic services are available at Main Campus. (wikipedia.org)
  • Counseling
  • Preconception/Prenatal Genetic Counseling services are available at Main Campus, Beachwood Family Health Center, Cleveland Clinic Independence Family Health Center and Hillcrest Hospital. (wikipedia.org)
  • Medicine
  • Cancer Genetics services are available at Main Campus (Genomic Medicine Institute and Breast Center), Cleveland Clinic Beachwood Family Health and Surgery Center, Cleveland Clinic Independence Cancer Center, Digestive Disease Institute and Colorectal Surgery (DDI/CORS) and Fairview Hospital's Moll Pavilion. (wikipedia.org)
  • models
  • As mechanisms determining the aetiology of the disease remain unclear yet, several research teams … have developed animal models from invertebrates to mammalians species. (iospress.com)
  • cause
  • Typically, SMA presents in early childhood and is the most common genetic cause of infant mortality i . (roche.com)
  • therefore, it depends on the disease Other management routes for NMD should be based on medicinal and surgical procedures, again depending on the underlying cause. (wikipedia.org)
  • The cause of most cases is unknown but believed to involve a combination of genetic and environmental factors. (wikipedia.org)