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Genetic Disorder Articles & Analysis
22 news found
Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the progressive formation of fluid-filled cysts in the kidneys, often leading to complications, including hypertension, kidney stones, urinary tract infections, and eventually kidney failure. ...
Changes in glycoprotein abundance and glycan structures are closely linked to various diseases, including genetic disorders, immunodeficiencies, cardiovascular diseases, and cancer. ...
CD Genomics' WGS offerings cater to a wide range of applications, including: 1. Human Genetics: Identifying disease-causing mutations and studying complex genetic traits. 2. ...
Recognizing the dire need for accelerated research in the field of rare diseases, the comprehensive gene therapy development solutions aim to overhaul the traditional slow and resource-intensive process of genetic research. The use of directed evolution, high throughput screening platforms, and vector production will boost the adoption and efficiency of gene therapy, thereby ...
TMAs lesions can be associated with many diseases and some genetic disorders linked to aHUS. Molecular diagnoses, in particular in genes associated with alternative complement pathway regulation, make it possible to identify patients that suffer from this condition as well as informing on possible therapeutic options for TMA/aHUS. ...
Rett Syndrome is a rare genetic neurological disorder that affects 1 in 10,000 females and leads to severe impairments that affect nearly every aspect of life, such as the ability to speak, walk, eat, and breathe easily. ...
Three animal models were generated to test safety and efficacy: two murine models representing two common genetic forms of MSUD and a newborn calf naturally homozygous for a mutation that causes MSUD. ...
(NASDAQ: RCKT), a leading late-stage, clinical biotechnology company advancing an integrated and sustainable pipeline of genetic therapies for rare childhood disorders with high unmet need, today announces positive top-line safety and efficacy data from its Phase 2 pivotal trial for severe Leukocyte Adhesion Deficiency-I (LAD-I) at the 25th Annual Meeting of the ...
About Duchenne Muscular Dystrophy Duchenne muscular dystrophy is a devastating genetic disorder characterized by progressive weakness and chronic inflammation of the skeletal, heart and respiratory muscles. ...
Capitalizing on significant advances in computational biology and drug discovery, the Company has applied its proprietary computational SEE-Tx® platform to generate its lead programs in GBA1 Parkinson’s disease, Gaucher disease as well as four additional programs to advance the treatment of lysosomal storage disorders. In addition, the Company has leveraged SEE-Tx to ...
Camurus (NASDAQ STO: CAMX) today announces that the company’s license partner Rhythm Pharmaceuticals has dosed the first patients in a Phase 3 trial evaluating weekly setmelanotide subcutaneous depot in patients six years of age and older with a rare genetic disease of obesity. “We are pleased with the progress of our collaboration with Rhythm and today’s ...
Epidermolysis bullosa (EB), better known as butterfly baby disease, is a genetic disorder that involves the continuous formation of bullous lesions on the skin, due to very small mechanical trauma and minimal rubbing, which strongly impact the quality of life of these patients. ...
Henderson is Director of The Metropolitan Neurosurgery Group, LLC, Chief of Neurosurgery at Luminis Health at Doctors Hospital, staff at University of Maryland Capitol Region Medical Center and Director of the Chiari Syringomyelia Foundation Greater Metropolitan Washington Chapter, where he is focused on the development of the understanding and treatment of deformity induced injury to the ...
HST5040 is being developed by HemoShear to lower toxic metabolites that build up in MMA and PA as a result of genetic deficiencies in key enzymes required to break down certain amino acids from protein. ...
I'm very much looking forward to working with Brendan and the team to continue to build a pipeline of RNA-based medicines to treat serious genetic diseases." Dr. Jeffrey Brown is a seasoned biotech leader with deep experience in preclinical and IND-enabling research, with a particular focus on genetically-defined disorders and antisense ...
“Our second generation AI Workbench continues to unlock a rapidly growing number of therapeutic opportunities for patients with genetically defined disorders. BioMarin is an industry leader in developing transformational therapies for patients with rare diseases, and we look forward to working with them to expand their clinical pipeline.” About ...
“In a short period of time, our artificial intelligence platform has unlocked dozens of novel therapeutic opportunities for addressing patients with rare genetic disorders,” said Brendan Frey, Founder and Chief Executive Officer. “As we transition to a clinical-stage pharmaceutical company and grow our portfolio of partnerships, we require a ...
Alpha Thalassemia is a frequent and severe recessive genetic blood disorder caused by mutations and deletions in the HBA1/HBA2 locus. 6% of the US population are carriers for the moderate form of the disease, Hemoglobin H disease (HbH), and 0.2% of the US population are carriers for more severe form of alpha thalassemia, Hb Barts. ...
Especially for degenerative diseases where cell loss and low self-repair potential occur, such as cardiac muscle loss or degenerative neurological disorders, regenerative cell therapy offers unprecedented potential to have a significant benefit for patients. BlueRock Therapeutics’ portfolio of cell therapies is currently focused on neurology, cardiology and immunology with ...
In partnership with Mesoblast Limited, JCR Pharmaceuticals has filed to extend the marketing approval of TEMCELL, a mesenchymal stem cell (MSC) wound healing product for patients with Epidermolysis Bullosa (EB). JCR has received an orphan drug designation for subcutaneous treatment of TEMCELL for EB, and are currently seeking a label extension for intravenous delivery of TEMCELL in Japan. There ...
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