Latest Genetic disorders Stories
Severe combined immunodeficiency is defect in the immune system that results in a loss of the adaptive immune cells known as B cells and T cells. Mutations in several different genes can lead to the development of severe combined immunodeficiency, including mutation of the adenosine deaminase (ADA) gene. Traditional treatment options, such as enzyme replacement therapy, are of limited efficacy, but bone marrow transplant from a compatible donor leads to a better response. A recent clinical...
HACKENSACK, N.J., May 24, 2012 /PRNewswire-USNewswire/ -- As the U.S. Senate continues debate on legislation that seeks to accelerate delivery of safe and effective therapies to patients and to increase the patient voice as part of the therapy review process, Parent Project Muscular Dystrophy (PPMD) is pleased to offer its enthusiastic endorsement of the legislation. (Logo: http://photos.prnewswire.com/prnh/20100119/DC39975LOGO) Over the past several months, PPMD - the leading...
SAN DIEGO, May 24, 2012 /PRNewswire/ -- Sangart, Inc., a global biopharmaceutical company dedicated to developing and commercializing targeted rescue therapies for patients in acute ischemic crisis, today announced that it recently received $50 million in additional equity funding from existing investor, Leucadia National Corporation. This funding was made upon the exercise of Series G preferred stock warrants previously held by Leucadia and brings the total funding raised by the...
Mutated and intact proteins of the cytoskeleton form abnormal aggregates Malformed desmin proteins aggregate with intact proteins of the same kind, thereby triggering skeletal and cardiac muscle diseases, the desminopathies. This was discovered by researchers from the RUB Heart and Diabetes Center NRW in Bad Oeynhausen led by PD Dr. Hendrik Milting in an interdisciplinary research project with colleagues from the universities in Karlsruhe, Würzburg and Bielefeld. They report in the...
Children born with cleft lip, cleft palate and other craniofacial disorders face numerous medical challenges beyond appearance. Patients can face serious airway, feeding, speech and hearing problems, as well as social and psychological challenges, Laura Swibel Rosenthal, MD, of Loyola University Medical Center and colleagues write in the June 2012 issue of Otolaryngologic Clinics of North America. "The management of patients with craniofacial syndromes is complex," Rosenthal and...
SAN JOSE, Calif., May 23, 2012 /PRNewswire/ -- Ariosa Diagnostics, a molecular diagnostics company, announced today the publication of a study that provides more information on the factors which may influence the amount of fetal DNA found in maternal blood. The study was led by Professor Kypros Nicolaides, MD, of Harris Birthright Research Centre for Fetal Medicine at King's College Hospital in the United Kingdom. (Logo: http://photos.prnewswire.com/prnh/20120326/NY75864LOGO ) The...
NEWTON, Mass., May 22, 2012 /PRNewswire/ -- Halo Therapeutics, LLC, a clinical-stage biopharmaceutical company developing novel therapeutics for rare fibrotic diseases, announced today that it has received financial support totaling $1.1 million from 12 not-for-profit foundations serving the muscular dystrophy patient community. Halo will use the funds to expedite the phase 2 study of HT-100, its lead drug candidate for Duchenne muscular dystrophy (DMD). HT-100, a proprietary...
ATLANTA, May 18, 2012 /PRNewswire/ -- UCB, Inc., a leading biopharmaceutical company dedicated to the research and development of treatments for severe central nervous system and immunological disorders, is marking Digestive Disease Week (DDW) 2012 in San Diego by reinforcing its commitment to improving the lives of patients with Crohn's disease. UCB will present scientific data at this year's DDW meeting. "DDW is an exciting opportunity for UCB to join its colleagues in the...
PLANO, Texas, May 18, 2012 /PRNewswire/ -- PepsiCo's Frito-Lay North America division today announced a multi-year initiative to validate many of their products as gluten free, with package labeling to follow. Since many of the company's snacks, such as Lay's Classic potato chips and Fritos Original corn chips are made from simple ingredients like corn or potatoes, they are, and always have been, naturally made without gluten ingredients. (Photo:...
SAN DIEGO, May 18, 2012 /PRNewswire/ -- Sequenom, Inc. (NASDAQ: SQNM), a life sciences company providing innovative genetic analysis solutions, today announced that a new publication from the large Women & Infants multi-center clinical study on the Sequenom Center for Molecular Medicine's (Sequenom CMM) MaterniT21 PLUS laboratory-developed test (LDT) has been published online in the peer-reviewed journal, Prenatal Diagnosis. Along with this week's publication, the Company...
Latest Genetic disorders Reference Libraries
The Munchkin is a fairly new breed of cat with a lot of controversy surrounding it. The breed is created by a mutation that causes achondroplasia, or hypochondroplasia, which results in the cats having abnormally short legs. The breed originated when a pregnant, short-legged black cat was discovered in Louisiana in 1983. One of her kittens, a tomcat, became the father of the breeding program for Munchkins. Several cat registries refuse to recognize the breed due to the controversy that...
