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Child with Bachmann-Bupp Syndrome successfully treated in just 16 months

Diagnosing a rare medical condition is difficult. Identifying a treatment for it can take years of trial and error. In a serendipitous intersection of research expertise, an ill patient in this case a child and innovative technology, Bachmann-Bupp Syndrome has gone from a list of symptoms to a successful treatment in just 16 months.

20 Jul 2021

Past SARS-CoV-2 infection enhances mRNA vaccine-induced neutralization of variants of concern

Researchers in the United States have conducted a study suggesting that individuals previously infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) exhibit better neutralizing activity against variants of concern following vaccination against coronavirus disease 2019 (COVID-19) than previously uninfected vaccinees.

19 Jul 2021

A path to treat currently untreatable cases of cystic fibrosis is clearly achievable, study suggests

An experimental drug reported in Nature Communications suggests that a "path is clearly achievable" to treat currently untreatable cases of cystic fibrosis disease caused by nonsense mutations.

19 Jul 2021

Computer scientists aim to reveal the evolutionary trees of cancer mutations

Rice University computer scientists will take full advantage of new technology to sequence the genome of a single cell and decode mysteries contained in tumors.

19 Jul 2021

Study elucidates the role of two isoforms of KRAS oncogenes

KRAS was one of the first oncogenes to be identified, a few decades ago. It is among the most common drivers of cancer and its mutations can be detected in around 25 per cent of human tumors.

19 Jul 2021

Novel coronavirus found in UK horseshoe bats

A coronavirus related to the virus that causes Covid-19 in humans has been found in UK horseshoe bats - according to new collaborative research from the University of East Anglia, ZSL (Zoological Society of London), and Public Health England (PHE).

19 Jul 2021

Tissue-specific genetic interactions drive different types of cancer development

Why do alterations of certain genes cause cancer only in specific organs of the human body? Scientists at the German Cancer Consortium, the Technical University of Munich, and the University Medical Center Göttingen have now demonstrated that cells originating from different organs are differentially susceptible to activating mutations in cancer drivers: The same mutation in precursor cells of the pancreas or the bile duct leads to fundamental different outcomes.

19 Jul 2021

SARS-CoV-2 B.1.617 mutations L452 and E484Q do not work together to evade antibodies

A short report recently published in the Journal of Infectious Diseases demonstrates how spike mutations L452R and E484Q found in the variant B.1.617.1 of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) each confer modestly diminished sensitivity to Pfizer-BioNTech (BNT162b2) mRNA vaccine-elicited antibodies – with combined mutations having a similar impact as either one of them alone.

19 Jul 2021

How do immunocompromised patients respond to COVID-19 vaccines?

The COVID-19 vaccines produce a boost in antibody activity against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). However, new research suggests vaccine responses aren’t all created equal. Their findings showed that immunocompromised patients, such as transplant recipients, with no prior exposure to SARS-CoV-2 produce little to no neutralizing antibodies.

18 Jul 2021

Research shows a direct link between SUV39H2 gene and autism spectrum disorders

New research from the RIKEN Center for Brain Science in Japan shows that a deficit in histone methylation could lead to the development of autism spectrum disorders (ASD).

16 Jul 2021

Researchers identify novel disorder resulting from a mutation in AIOLOS protein

Primary immunodeficiencies, such as severe combined immunodeficiency disease (SCID), occur when the immune system does not work properly, leading to increased susceptibility to various infections, autoimmunity, and cancers.

16 Jul 2021

Combination of investigational therapeutic and chemotherapy shows promise for AML treatment

The investigational therapeutic ficlatuzumab in combination with chemotherapy showed signs of clinical efficacy in patients with relapsed/refractory acute myeloid leukemia.

16 Jul 2021

Could new strains of COVID evolve in farm animals or pets?

It appears no one is safe from severe acute respiratory coronavirus 2 (SARS-CoV-2). Given that SARS-CoV-2 likely developed in bats and later transmitted to humans in Wuhan, China, there has been concern over animals infecting humans. But more evidence has shown that humans are more likely to infect animals — from hamsters, gorillas to the domestic cat.

14 Jul 2021

Drug combination found to be safe and effective in malignant peritoneal mesothelioma patients

A phase II study led by researchers from The University of Texas MD Anderson Cancer Center found that treatment with atezolizumab and bevacizumab was well-tolerated and resulted in a 40% objective response rate in patients with advanced malignant peritoneal mesothelioma, a rare cancer in the lining of the abdomen.

14 Jul 2021

Researchers examine efficacy of CT-P59 monoclonal antibody against SARS-CoV-2 Brazil variant

The therapeutic monoclonal antibody CT-P59 binds to the RBD of SARS-CoV-2, the site of these three major mutations, which may therefore reduce the potency of this antibody against the P.1 lineage. In a new study, the neutralizing potency of this monoclonal antibody towards both wildtype and P.1 SARS-CoV-2 is investigated. The researchers found that the ability to bind with the virus is impeded by the mutations, resulting in reduced potency in vitro.

14 Jul 2021

Dying patients with rare diseases struggle to get experimental therapies

At 15, Autumn Fuernisen is dying. She was diagnosed at age 11 with a rare degenerative brain disorder that has no known cure or way to slow it down: juvenile-onset Huntington's disease.

14 Jul 2021

SARS-CoV-2 mutations occur in essentially the same locations, research finds

New research from the University of Nebraska-Lincoln has shown that the mutations arising in the COVID-19-causing SARS-CoV-2 virus seem to run in the family -- or at least the genus of coronaviruses most dangerous to humans.

14 Jul 2021

Wildtype SARS-CoV-2 more widespread in 10-19-year-olds prior to vaccine availability in the USA

A new study aimed to investigate the susceptibility of adolescents as compared to older adults in the United States during the summer of 2020.

13 Jul 2021

Understanding the molecular mechanisms behind lung cancer relapse

When a doctor gives a patient antibiotics for a bacterial infection, they usually require them to finish the entire treatment, even when symptoms go away.

13 Jul 2021

Scientists develop mouse-specific SARS-CoV-2 strains that efficiently replicate in standard laboratory mice

A team of scientists in France recently developed a mouse-adapted strain of SARS-CoV-2 that efficiently replicates in the lungs of standard laboratory mice and induces mild to moderate disease. The study is currently available on the bioRxiv* preprint server.

13 Jul 2021

Mutation News and Research

Child with Bachmann-Bupp Syndrome successfully treated in just 16 months

Past SARS-CoV-2 infection enhances mRNA vaccine-induced neutralization of variants of concern

A path to treat currently untreatable cases of cystic fibrosis is clearly achievable, study suggests

Computer scientists aim to reveal the evolutionary trees of cancer mutations

Study elucidates the role of two isoforms of KRAS oncogenes

Novel coronavirus found in UK horseshoe bats

Tissue-specific genetic interactions drive different types of cancer development

SARS-CoV-2 B.1.617 mutations L452 and E484Q do not work together to evade antibodies

How do immunocompromised patients respond to COVID-19 vaccines?

Research shows a direct link between SUV39H2 gene and autism spectrum disorders

Researchers identify novel disorder resulting from a mutation in AIOLOS protein

Combination of investigational therapeutic and chemotherapy shows promise for AML treatment

Could new strains of COVID evolve in farm animals or pets?

Drug combination found to be safe and effective in malignant peritoneal mesothelioma patients

Researchers examine efficacy of CT-P59 monoclonal antibody against SARS-CoV-2 Brazil variant

Dying patients with rare diseases struggle to get experimental therapies

SARS-CoV-2 mutations occur in essentially the same locations, research finds

Wildtype SARS-CoV-2 more widespread in 10-19-year-olds prior to vaccine availability in the USA

Understanding the molecular mechanisms behind lung cancer relapse

Scientists develop mouse-specific SARS-CoV-2 strains that efficiently replicate in standard laboratory mice

Managing vibration in IVF laboratories

Improving healthcare sustainability through carbon data

A New Approach to Preventing Bladder Cancer Recurrence

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