Mutation News and Research

RSS

Raised lipoprotein(a) could account for a quarter of FH cases

High levels of lipoprotein(a) could account for a substantial proportion of cases of familial hypercholesterolaemia, a large study shows.

20 May 2016

Penn State researchers link mutation in common virus to fatal brain disease

Why people on immunosuppressant drugs for autoimmune conditions have a higher incidence of an often-fatal brain disease may be linked to a mutation in a common virus, according to researchers at Penn State College of Medicine.

19 May 2016

Hydroxyurea treatment improves pulmonary function decline in children with sickle cell disease

For the first time, researchers were able to demonstrate that children diagnosed with sickle cell disease showed improvement in lung function after treatment with hydroxyurea, a treatment that is underused despite its demonstrated benefits.

19 May 2016

Mouse model of depression can help better understand how ketamine functions

New research demonstrates the effectiveness of ketamine to treat depression in a mouse model of the disease and brings together two hypotheses for the cause of depression.

19 May 2016

Effective chemotherapeutic drug may induce permanent hearing loss in Cockayne syndrome individuals

The chemotherapy drug cisplatin can kill cancer, but it can also cause permanent hearing loss.

19 May 2016

Domestic water hardness linked to eczema risk in children

High levels of water hardness in the home may be linked to the development of eczema early in life, according to a new study led by King's College London.

18 May 2016

Research shows close similarities of canine models of human rare disorders

Professor Hannes Lohi's research group at the University of Helsinki has discovered three novel canine genes for Caffey, Raine and van den Ende-Gupta syndromes. Research reveals close similarities of the canine models of human rare disorders and highlights the potential of comparative research approach for the development of rare disease diagnostics and treatments.

18 May 2016

Targeting ERK and compensatory pathways with drug inhibitors halts colorectal cancer growth

While investigating a potential therapeutic target for the ERK1 and 2 pathway, a widely expressed signaling molecule known to drive cancer growth in one third of patients with colorectal cancer, University of California San Diego School of Medicine researchers found that an alternative pathway immediately emerges when ERK1/2 is halted, thus allowing tumor cell proliferation to continue.

18 May 2016

Novel therapeutic approach to treat leukaemia patients

Cancer cells have an abnormal cell division and survival machinery - they grow faster than they die. For their permanent development, they produce an excess of growth factors and nutrients and block the body's own safety mechanisms.

17 May 2016

Phase 2 results of AbbVie’s venetoclax in patients with R/R CLL with 17p deletion published in The Lancet Oncology

AbbVie, a global biopharmaceutical company, today announced The Lancet Oncology published results from the Phase 2, single arm, open label trial studying venetoclax in patients with relapsed/refractory (R/R) chronic lymphocytic leukaemia (CLL) with 17p deletion.

17 May 2016

Could worm infection counter IBD? An interview with Dr Loke and Dr Cadwell

The hygiene hypothesis refers to the idea that decreased exposure to certain infectious agents (because of better hygiene) is the reason why we have seen an increase in inflammatory diseases in the developed world.

17 May 2016

Researchers reveal new mechanism that helps breast cancer cells engage MDSCs

Not every breast cancer tumor follows the same path to grow. Some tumors have the assistance of myeloid-derived suppressor cells (MDSCs), a diverse type of immune cell involved in the suppression of the body's response against tumors.

17 May 2016

Study shows inhibition of SHP-2 enzyme can diminish lupus symptoms

Researchers at Beth Israel Deaconess Medical Center have identified an enzyme that is significantly elevated in mouse models of systemic lupus erythematosus and in blood samples of patients with lupus.

17 May 2016

Birmingham Women's Hospital leads the way in genomic diagnosis

Birmingham Women's Hospital (BWH) has adopted a radical new technology to make it easier to identify rare diseases by their genetic causes, leading to a faster and more accurate diagnosis for the patient. The technology being used to do this is called Sapientia™ and it is facilitating the reclassification of disease.

16 May 2016