Congenital Hearing Loss

apert syndrome gene :: Article Creator New Genetic Cause Of Intellectual Disability Potentially Uncovered In 'junk DNA' Scientists have uncovered a rare genetic cause of intellectual disability in a historically overlooked part of the human genome: so-called junk DNA.  This knowledge could someday help to diagnose some patients with these disorders, the researchers say.  An intellectual disability is a neurodevelopmental disorder that appears during childhood and is characterized by intellectual difficulties that impact people's learning, practical skills and ability to live independently. Such conditions affect approximately 6.5 million Americans.  Factors such as complications during birth can trigger intellectual disabilities. However, in most cases, the disorders have an underlying genetic cause. So far, around 1,500 genes have been linked with various intellectual disabilities — but clinicians are still not always

hemophilia a causes :: Article Creator 7 Lesser-Known Symptoms Of Hemophilia: Blood In Stool And Other Warning Signs To Look Out For 7 Lesser-Known Symptoms of Hemophilia: Blood In Stool And Other Warning Signs To Look Out For Uncover some of the hidden signs of Hemophilia, including blood in the stool among several other red flags to keep an eye out for. Haemophilia, a genetic ailment causing trouble for the blood in clotting correctly, is relatively rare. Despite its low occurrence, there are multiple facets about this disorder that are often overlooked and deserve our attention. Predominantly a hereditary disease, haemophilia primarily strikes males. It is the outcome of clotting factor deficiency, particularly Factor VIII (Haemophilia A) or Factor IX (Haemophilia B). The short supply of these factors causes bleeding for an extended period and hurdles in forming clots, leading to severe consequences if left untreated. In an exclusive

klinefelter syndrome is mainly found in :: Article Creator Klinefelter Syndrome 1. Klinefelter HF, Reifenstein EC, Albright F: Syndrome characterized by gynecomastia, aspermatogenesis without A-Leydigism, and increased excretion of follicle-stimulating hormone. J Clin Endocrinol 1942; II: 615–27. CrossRef 2. Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E: Klinefelter's syndrome. Lancet 2004; 364: 273–83. CrossRef MEDLINE 3. Nieschlag E, Behre HM, Wieacker P, Meschede D, Kamischke A, Kliesch S: Störungen im Bereich der Testes. In: Nieschlag E, Behre HM, Nieschlag S (eds.): Andrologie: Grundlagen und Klinik der reproduktiven Gesundheit des Mannes. 3rd edition Heidelberg, Springer: 2009; 199–244. 4. Swerdlow AJ, Higgins CD, Schoemaker MJ, Wright AF, Jacobs PA: Mortality in patients with Klinefelter syndrome in Britain: a cohort study. J Clin Endocrinol Metab 2005; 90: 6516–22. CrossRef MEDLINE 5. Bojesen A, Juul S, Birkebaek NH, Gravholt

paediatric haemophilia :: Article Creator FDA OKs Clinical Testing Of BE-101 As Potential Hemophilia B Treatment The U.S. Food and Drug Administration (FDA) has cleared clinical testing in adults of BE-101, a B-cell treatment candidate for hemophilia B being developed by Be Biopharma. The Phase 1/2 trial, called BeCoMe-9, will be a first-in-human study designed to assess the safety and preliminary efficacy of BE-101 in adults with moderately severe to severe hemophilia B. The company said it expects to start dosing patients in the second half of the year. "The [FDA] clearance is a major milestone in our journey to offer a new, transformative standard of care for people with hemophilia B," Joanne Smith-Farrell, PhD, Be Biopharma's CEO, said in a company press release. Steven Pipe, MD, from the University of Michigan, said the experimental therapy has the potential to be disease-modifying. "If proven safe and effective i

huntington disease x linked recessive :: Article Creator Leprosy Drug May Be Effective In Huntington's Disease, Study Suggests A preclinical study from Karolinska Institutet offers hope for treating severe neurodegenerative diseases with an existing drug. The study suggests that the leprosy drug clofazimine may be effective in the treatment of Huntington's disease. The research group examined whether existing drugs could reduce the toxicity of so-called polyQ proteins. These proteins are found in patients with certain hereditary neurodegenerative diseases, including Huntington's disease, for which there is no cure. Screening hundreds of drugs, they found that the leprosy drug clofazimine reduces the toxicity of polyQ proteins and restores mitochondrial function in zebrafish and worms. The finding supports the previous hypothesis that polyQ diseases are associated with the dysfunction of mitochondria, the organelles in charge of p

chromosome 22 deletion syndrome :: Article Creator New Biomarkers Identified For Predicting Psychosis Risk In 22q11.2 Deletion Syndrome A recent study led by UC Davis Health researchers provides new insights into the molecular changes linked to the rare genetic condition 22q11.2 deletion syndrome, or 22q. It found unique biomarkers that could identify patients with 22q who may be more likely to develop schizophrenia or psychiatric conditions, including psychosis, which is commonly associated with 22q. The research was published in the journal Metabolomics. People with 22q are missing a piece of chromosome 22 that contains more than 30 genes. This loss can lead to a variety of health challenges, including heart issues, psychosis, attention-deficit/hyperactivity disorder (ADHD), autism and other conditions. However, it is not clear which genes in the deleted region lead to these symptoms. The research team focused on the likelihood of patients

types of congenital hearing loss :: Article Creator Hearing Disabilities Hearing (or auditory) disabilities are usually defined by a decreased ability or total inability to hear (deafness). Individuals who are hard of hearing, or don't hear well, and individuals who are unable to hear, or are deaf, would typically be considered to have a hearing disability. Hearing impairment or loss can be congenital, can happen over time, can occur later in life, can be the result of injury or aging, can be in one ear or both, can be temporary or permanent, or can be caused by any number of factors. Types and degrees of hearing loss and disabilities There are typically considered to be four types of hearing loss: Conductive hearing loss: This occurs when sound is blocked from getting through the outer ear canal and middle ear. Sensorineural hearing loss: This occurs when there is damage to the spiral ganglion, or nerves or hair cells in the inner ear.

inherited genetic conditions :: Article Creator Inherited Gene Variations Reveal Precision Therapy Potential For Rare Cancer Syndrome An international team of researchers led by The Hospital for Sick Children (SickKids) have, for the first time, developed strategies to diagnose and treat an aggressive syndrome that leads to cancer in almost all cases.  Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare genetic condition. Children who inherit the syndrome are considered "predisposed" to cancer, meaning they have a high likelihood of developing many different types of cancer – most commonly in the brain, digestive system and blood. In the past, these patients rarely survived to adulthood.   Research into CMMRD published in The Lancet Oncology studied more than 330 malignant tumours from 201 patients with the syndrome from the International Replication Repair Deficiency Consortium (IRRDC). The research team, including