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Research findings lead to new clinical trial for people with myelofibrosis

Researchers at Huntsman Cancer Institute at the University of Utah (U of U) discovered in laboratory studies that an experimental drug called selinexor may block a crucial survival pathway exploited by myelofibrosis cells.

20 Jun 2019

Researcher employs people who inject drugs to study factors influencing acquisition of HIV

In recent years, the HIV infection rate in Estonia has continued to be around 200 new cases each year, which is still one of the highest incidence rates per 100,000 inhabitants in Europe.

20 Jun 2019

Dietary supplement improves neuronal function of a patient with atypical Rett syndrome

A multicentric translational research study carried out by groups of the Bellvitge Biomedical Research Institute, Sant Joan de Déu Hospital, the University of Barcelona, Hospital Clínic, the University of Vic, Sant Pau i la Santa Creu Hospital, the Rare Diseases Networking Biomedical Research Centre and the Commissariat à l'Énergie Atomique, has demonstrated the potential of the amino acid L-serine - administered as a dietary supplement - to improve the neuronal function of a patient with a mutation of glutamate receptors associated with atypical Rett syndrome with severe encephalopathy.

19 Jun 2019

Scientists pinpoint cause of fatal respiratory disorder that turns babies' lips and skin blue

Scientists used a gene editing method called CRISPR/Cas9 to generate mice that faithfully mimic a fatal respiratory disorder in newborn infants that turns their lips and skin blue. The new laboratory model allowed researchers to pinpoint the ailment's cause and develop a potential and desperately needed nanoparticle-based treatment.

19 Jun 2019

Scientists make breakthrough in understanding the genetics of common syndromic autism

Australian and Chilean scientists have made a breakthrough in their understanding of the genetics of a common form of syndromic autism – and they hope their work could one day lead to the development of treatments for the condition.

19 Jun 2019

Researchers find possible counterpunch to drug resistance of melanoma

Researchers at Oregon State University and Oregon Health & Science University have found a possible counterpunch to the drug resistance of melanoma, the most dangerous form of skin cancer.

19 Jun 2019

Researchers identify genetic mutation that causes fatal response to HAV infection

Researchers have identified a genetic mutation that caused an 11-year-old girl to suffer a fatal reaction to infection with the Hepatitis A virus.

18 Jun 2019

Groundbreaking drug boosts growth rates in children with achondroplasia

A groundbreaking drug that helps regulate bone development has boosted growth rates in children with achondroplasia - the most common type of dwarfism - in a global trial led by Melbourne's Murdoch Children's Research Institute.

18 Jun 2019

Complement system shown to remove dead cells in retinitis pigmentosa, contradicting previous research

Researchers have found that the complement system seems to protect against retinal degeneration in retinitis pigmentosa.

18 Jun 2019

Researchers examine transport mechanism of bacterial membrane protein

An international research team has investigated the transport mechanism of a bacterial membrane protein using an artificially produced antibody fragment.

17 Jun 2019

Study focuses on the recurrence of developmental disorder in future pregnancies

Having a child with a developmental disorder can cause parents to worry about the outcome of further pregnancies.

17 Jun 2019

New discovery could improve therapies for Duchenne muscular dystrophy

A new multi-institution study spearheaded by researchers at Florida State University and the University of California, Los Angeles suggests a tiny protein could play a major role in combating heart failure related to Duchenne muscular dystrophy (DMD), the most common lethal genetic disorder among children.

16 Jun 2019

FAU scientists develop rapid, reliable method to continuously monitor sickle cell disease

Sickle cell disease is a hereditary disorder that affects red blood cells, distorting their natural disc shape into a crescent moon or "sickle" shape. Normal red blood cells move freely through small vessels throughout the body to deliver oxygen.

14 Jun 2019

Disease-modifying therapy for Alport syndrome still remains an unmet need

Alport syndrome is a hereditary type IV collagen disease that leads to progressive proteinuria, renal fibrosis, and kidney failure.

13 Jun 2019

Engineers crack the code to quickly diagnose anti-malarial drug resistance

One of the keys to quickly diagnosing anti-malarial drug resistance -- potentially saving lives -- lies in testing whole blood instead of extracting DNA, eliminating processing steps that can take hours or days.

13 Jun 2019

New assay uses a drop of blood to detect patients' resistance to antimalarial drugs

Antimalarial drugs appear to follow a typical pattern, with early effectiveness eventually limited by the emergence of drug resistance.

13 Jun 2019

More screening and new treatments needed for sickle cell disease

The promise of new treatments for sickle cell disease, a group of inherited red blood cell disorders, has never been so great, but it will only be realized if there is constant investment in health policies such as programs for screening newborns, especially in sub-Saharan Africa, where most cases occur.

13 Jun 2019

Malaria drug may help those with hereditary hearing loss finds study

Researchers have found that anti-malarial drug artemisinin could help patients with genetic or hereditary hearing loss. The study results were published in the latest issue of the journal Proceedings of the National Academy of Sciences (PNAS). The study was titled, “Unconventional secretory pathway activation restores hair cell mechanotransduction in an USH3A model.”

12 Jun 2019

Study suggests therapeutic solutions for pantothenate kinase-associated neurodegeneration

The scientific research team from the Universidad Pablo de Olavide led by doctor José Antonio Sánchez Alcázar has published a new study in the international magazines Molecular Neorubiology and Neural Regeneration Research.

11 Jun 2019

Proteasome inhibitors show potential for combating multidrug-resistant malaria

Proteasome inhibitors have significant promise as components of novel combination therapies to treat multidrug-resistant malaria, according to a study published June 6 in the open-access journal PLOS Pathogens by David Fidock, Caroline Ng, and Barbara Stokes of Columbia University Irving Medical Center, Matthew Bogyo of Stanford University School of Medicine, and colleagues.

From PLOS ONE 10 Jun 2019

Mutation News and Research

Research findings lead to new clinical trial for people with myelofibrosis

Researcher employs people who inject drugs to study factors influencing acquisition of HIV

Dietary supplement improves neuronal function of a patient with atypical Rett syndrome

Scientists pinpoint cause of fatal respiratory disorder that turns babies' lips and skin blue

Scientists make breakthrough in understanding the genetics of common syndromic autism

Researchers find possible counterpunch to drug resistance of melanoma

Researchers identify genetic mutation that causes fatal response to HAV infection

Groundbreaking drug boosts growth rates in children with achondroplasia

Complement system shown to remove dead cells in retinitis pigmentosa, contradicting previous research

Researchers examine transport mechanism of bacterial membrane protein

Study focuses on the recurrence of developmental disorder in future pregnancies

New discovery could improve therapies for Duchenne muscular dystrophy

FAU scientists develop rapid, reliable method to continuously monitor sickle cell disease

Disease-modifying therapy for Alport syndrome still remains an unmet need

Engineers crack the code to quickly diagnose anti-malarial drug resistance

New assay uses a drop of blood to detect patients' resistance to antimalarial drugs

More screening and new treatments needed for sickle cell disease

Malaria drug may help those with hereditary hearing loss finds study

Study suggests therapeutic solutions for pantothenate kinase-associated neurodegeneration

Proteasome inhibitors show potential for combating multidrug-resistant malaria

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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