New gene therapy improves hearing in patients with rare genetic deafness

	Rare Diseases
	The latest rare diseases news from News Medical

	New gene therapy improves hearing in patients with rare genetic deafness A new international study co-led by investigators from Mass General Brigham and the Eye & ENT Hospital of Fudan University shows that a gene therapy for a rare form of genetic deafness successfully restored hearing in most participants, with results lasting up to 2.5 years.

	Aston University bioscientist receives £125,000 to investigate genetic reasons for neurodegeneration Aston University bioscientist Dr John Reynolds has won a £125,000 Springboard grant from the Academy of Medical Sciences (AMS) for research into neurodegeneration caused by a rare genetic disease.

	AP-1 proteins help cancer cells rewire genes to survive treatment A long-standing mystery in cancer treatment is how tumor cells so often become resistant to drugs, even ones they have never encountered before.

	Study maps the evolution of myeloid leukemia in children with Down syndrome It may be possible to identify which pre-cancerous cells will develop into a rare type of blood cancer, due to new research showing that a single genetic change drives myeloid leukemia in children with Down syndrome.

			New "plug-and-play" AI outperforms pathologists in lymph node metastasis detection A research team led by The Hong Kong University of Science and Technology (HKUST) has developed a pioneering artificial intelligence (AI) pathology analysis system that can accurately recognize multiple types of cancer using only a minimal number of samples-without requiring any additional training.

			Autism risk rises with multiple medications taken during pregnancy A study links maternal use of cholesterol-inhibiting medications during pregnancy to increased autism risk in children, urging caution in prescribing practices.

			Study reveals genetic factors influencing SYNGAP1 encephalopathy disease severity SYNGAP1 encephalopathy is a rare genetic disorder for which there is no treatment, causing epilepsy, intellectual disability, psychomotor delay and, frequently, autism.

	Cancer-linked mutations in the brain cells may drive Alzheimer’s disease As the body ages, cells naturally accumulate dozens of genetic mutations each year. New research from Boston Children's Hospital, published in Cell, finds that the brain's resident immune cells, microglia, amass mutations in specific cancer-driving genes yet they don't manifest as cancer.

	Cell squeezing technology offers new breast cancer risk assessment Researchers at City of Hope, a cancer research and treatment organization, and the University of California, Berkeley, have created a novel microfluidic platform that can assess women's breast cancer risk at the cellular level.

	Dutch study shows off-label targeted therapies benefit more cancer patients The largest published prospective evaluation of off-label targeted cancer therapies has shown that more patients could benefit from existing drugs.

	ACP recommends biennial mammography for women aged 50 to 74 New guidance from the American College of Physicians (ACP) says all asymptomatic, average-risk females ages 50 to 74 should receive biennial screening mammography for breast cancer.

	Scientists seek to reverse neurodegeneration by eliminating harmful RNA pollution Researchers at University of California San Diego School of Medicine, the Salk Institute and Sanford Burnham Prebys have received a four-year, $13 million award from the California Institute for Regenerative Medicine (CIRM) to investigate how to reverse age-related neurodegeneration by eliminating what the researchers call "RNA pollution" in aging neurons.

	APC-deficient cancer cells rely on single enzyme for survival A newly published study reports that APC-deficient cancer cells may depend on a single metabolic enzyme for survival, revealing a potential strategy for selectively targeting tumours associated with one of the most common mutations in colorectal cancer.

	New mouse model reveals primary trigger of rare muscle disorder Myofibrillar myopathy type 6 (MFM6) is a rare genetic muscle disorder that leads to severe muscle weakness and a drastically shortened life expectancy due to a disruption in muscle protein regulation.

	Migraine genes linked to worse headaches after concussion in children A University of Calgary-led study has found evidence that children with genes predisposing to migraine might have an increased risk of having more headaches after a concussion, which are known to be linked to prolonged symptoms up to six-months after the injury.

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