Antisense is the non-coding strand in double-stranded DNA. The antisense strand serves as the template for mRNA synthesis.
New research led by hearing scientists at Oregon Health & Science University suggests an avenue to treat and prevent intractable genetic disorders before birth.
Seizure disorders in babies are frightening and heartbreaking. A new basic science breakthrough offers hope for a potential treatment for rare developmental and epileptic encephalopathies resulting from a single genetic mutation.
Over half of our genomes are made of repeating elements within DNA. In rare cases, these repeats can become unstable and grow in size. These repeat "expansions" cause neurodegenerative diseases such as ALS and dementia as well as learning disorders and autism in Fragile X syndrome.
A genetic mutation that disrupts how DNA sends messages to the rest of a cell has been linked to a large number of blood cancers.
Aging is a complex and natural process that affects all living organisms. As people age, normal biological processes are affecting, resulting in a decline in various organs and age-related conditions. Though aging is normal, some children affected by a disease called Progeria may age way faster than others.
A study published in the Journal of Neuromuscular Diseases presents the first evidence of mild improvement or stabilization of motor and respiratory function in adults with spinal muscular atrophy type 3 (SMA3) treated with Nusinersen, which was the case even in patients who have had the disease for 20 years or more.
Jennifer J. Lentz, PhD, Associate Professor at LSU Health New Orleans Neuroscience Center of Excellence and Departments of Otorhinolaryngology, Genetics and Ophthalmology, in collaboration with Robert K. Koenekoop MD, PhD and Professor of Pediatric Surgery, Human Genetics and Ophthalmology at McGill University in Montreal, Quebec, Canada, has been awarded a $1.74 million USD grant to advance research on Usher syndrome.
An unprecedented case at Boston Children's Hospital shows that it's possible to do something that's never been done before: identify a patient's unique mutation, design a customized drug to bypass it, manufacture and test the drug, and obtain permission from the Food and Drug Administration (FDA) to begin treating the patient -- all in less than one year.
A new therapeutic being tested by University of Alberta researchers is showing early promise as a more effective treatment that could help nearly half of patients with Duchenne muscular dystrophy.
Researchers from the Josep Carreras Leukemia Research Institute, discover that a non-coding region of the genome originates a key molecule for the proliferation of tumors in breast cancer and some types of sarcoma.
Hepatoblastoma is a rare form of liver cancer affecting just a few individuals per million. However, it is the leading cause of liver cancer in infants and young children, with most patients diagnosed before their third birthday.
People with familial chylomicronemia syndrome are born with a genetic mutation that means they can't produce an enzyme called lipoprotein lipase.
Prion proteins are known to cause scrapie – a neurodegenerative condition. It is capable of debilitating damage to the nervous system. Researchers have successfully devised a treatment for this condition which prolonged the lives of the lab mice infected with the prions.
The results from three clinical trials have shown that a new drug can successfully delay the progression of Duchenne muscular dystrophy.
Scientists from Far Eastern Federal University, V.I. Vernadsky Crimean Federal University, Dmitry Mendeleev University of Chemical Technology, and Far Eastern Branch of the Russian Academy of Sciences, assumed the risks of primary skin cancer and its recurrences can be significantly reduced by applying the ointment with antisense oligonucleotides which are short DNA, RNA fragments used in oncology to suppress the synthesis of tumor proteins.
Researchers at Karolinska Institutet have discovered the underlying cause of a hereditary muscle disease first characterised in a Swedish family in 1980. It proves to be the first identified disease caused by defective myoglobin, the protein that transports oxygen in muscle cells.
A fusion gene is a new gene made by joining parts of two different genes. The current thought is that fusion genes can happen in cells with unstable genome when part of the DNA from one chromosome moves to another chromosome.
A first-in-human study with a new class of antisense oligonucleotide therapeutics showed the ability to target the RNA-silencing drug to the liver, resulting in improved potency and safety at therapeutic doses. The design and results of this trial, conducted in healthy human volunteers are reported in Nucleic Acid Therapeutics, a peer-reviewed journal from Mary Ann Liebert, Inc. publishers.
A new therapy aimed at improving the sight of people with one of the most common forms of childhood blindness, has shown 'very promising' initial results, according to a study involving UCL researchers.
A Massachusetts General Hospital research team has created a new mouse model of a common form of muscular dystrophy with the potential of rapidly distinguishing promising therapeutic drugs from those unlikely to be successful.