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UrduA mutation in a protein regulating natural killer (NK) cells’ function is at the root of immune deficiency in some people with a rare genetic condition characterized by cognitive and developmental delay, seizures, and other manifestations. The findings also have broader implications for immunity and cell therapies.
Tag: Gene Mutation
Families living with Noonan Syndrome call for more social support and medical awareness
A survey of more than 60 families living with Noonan Syndrome has highlighted the need for more social support and medical awareness.
Noonan Syndrome, though classed as a ‘rare’ genetic condition, is estimated to affect between 1 in 2000 to 1 in 2500 births in the UK, causing diverse health issues.
The findings of the collaborative study between Loughborough University and the Noonan Association Syndrome are being shared as part of a month-long awareness campaign.
One of the key survey findings is that there is a lack of awareness of the rare genetic condition – even among medical professionals, which can lead to difficulties in accessing care.
Another theme that emerged is that the social and emotional impacts of living with Noonan Syndrome are overlooked for individuals and carers.
The researchers and charity are now calling for greater awareness, research, and support systems.
Individuals and families – including Ian Legg, the Fay family, and Andrea Reid-Kelly – are sharing t
Researchers uncover why a gene mutant causes young children to have strokes
A discovery of a mutation in the gene ACTA2 has given researchers, led by Dianna Milewicz, MD, PhD, with UTHealth Houston, insight into understanding the cause of a rare and progressive problem with arteries in the brain and a cause of strokes in young children, called moyamoya disease.
Case Western Reserve researchers identify inherited gene mutation linked to esophageal cancer
Studying genes in families with a propensity for certain diseases has led to many critical advances in medicine, including the discovery of statins in family members who suffered heart attacks at an early age.
Breakthrough Targeted Therapy Approach for Non-Small Cell Lung Cancer Helps Patients With a Genetic Mutation Live Longer
The immunotherapy drug, durvalumab, has been the standard of care for patients with stage III non-small cell lung cancer(NSCLC) to improve survival, when prescribed after chemotherapy and radiation therapy.
Gene Mutation May Explain Why Some Don’t Get Sick from COVID-19
People who contract COVID-19 but never develop symptoms – the so-called super dodgers – may have a genetic ace up their sleeve. They’re more than twice as likely as those who become symptomatic to carry a specific gene variation that helps them obliterate the virus, according to a new study led by UC San Francisco researchers.
Gene Mutation Leading to Autism Found to Overstimulate Brain Cells
Scientists looking to understand the fundamental brain mechanisms of autism spectrum disorder have found that a gene mutation known to be associated with the disorder causes an overstimulation of brain cells far greater than that seen in neuronal cells without the mutation.
The Rutgers-led study, spanning seven years, employed some of the most advanced approaches available in the scientific toolbox, including growing human brain cells from stem cells and transplanting them into mouse brains.
Tufts Scientist Teams Up with Families to Find a Treatment for Rare Disease
Tufts neuroscientist Michele Jacob studies the CTNNB1 gene, which is crucial for cell development, but a mutation in the gene can result in a developmental disorder with no cure
Landmark Study of Biomarker Data May Enable Better Treatment for Early Onset Dementia
In a study publishing in Nature Medicine on September 22, 2022, University of California San Francisco researchers Adam Staffaroni, PhD, and Adam Boxer, MD, PhD, combined and harmonized clinical, neuroimaging, and fluid biomarkers from nearly all familial FTD clinical research participants across North America and Europe. With that data, they developed models of clinical and biomarker dynamics to determine the temporal sequence of biomarker and clinical changes in f-FTD before disease progression begins.
University of Miami Miller School of Medicine Selected for National NF2 Tumor Clinical Trial
A University of Miami Miller School of Medicine researcher is hoping an innovative multicenter clinical trial will lead to new therapies for neurofibromatosis type 2 (NF2), a devastating disease causing multiple types of tumors involving the brain, spine, and peripheral nerves.
Investigators Uncover Cellular Pathway Involved in Cancer Growth
A hallmark of cancer is its ability to replicate, a process commonly driven by the reactivation of the telomerase enzyme complex, which helps prevent the aging and death of healthy cells and keeps stem cells in bone marrow and the intestines from producing normal cells in those organs. When telomerase is activated in cancer cells, it helps them survive and duplicate in the body.
Are Heavy Metals Toxic? Scientists Find Surprising New Clues in Yeast
Scientists at Berkeley Lab and UC Berkeley have compiled the most complete library yet of lanthanide heavy metals and their potential toxicity – by exposing baker’s yeast to lanthanides. Their findings could help researchers uncover hidden pathways between lanthanide metals and disease.
Mayo study finds colon cancer driven by hereditary gene mutations in 1 in 6 patients
A new Mayo Clinic study bolsters evidence that colorectal cancer is often imprinted in family genes and passed on from one generation to the next.
Stem Cell Study Illuminates the Cause of a Devastating Inherited Heart Disorder
Stem cell study findings show that LMNA gene mutations can disrupt the “identity” of heart muscle cells
Even in People with Parkinson’s Gene, Coffee May Be Protective
Even for people with a gene mutation tied to Parkinson’s disease, coffee consumption may be associated with a lower risk of actually developing the disease, according to a new study published in the September 30, 2020, online issue of Neurology®, the medical journal of the American Academy of Neurology.
The genetics of blood: a global perspective
To better understand the properties of blood cells, an international team led by UdeM’s Guillaume Lettre has been examining variations in the DNA of 746,667 people worldwide.
Lung cancer trial of RET inhibitor selpercatinib achieves durable responses in majority of patients with RET gene fusions
For patients with non-small cell lung cancers marked by RET gene fusions, the targeted therapy selpercatinib was well tolerated and achieved durable objective responses, or tumor shrinkage, in the majority of patients in a Phase I/II trial.
A New Way to Target Cancers Using ‘Synthetic Lethality’
Researchers at Ludwig Institute for Cancer Research and University of California San Diego School of Medicine report that inhibiting a key enzyme caused human cancer cells associated with two major types of breast and ovarian cancer to die and in mouse studies reduced tumor growth.
Zinc Transporter Gene Mutation May Play Role in Lactation Performance
Article title: A common genetic variant in zinc transporter ZnT2 (Thr288Ser) is present in women with low milk volume and alters lysosome function and cell energetics Authors: Olivia C. Rivera, Donna T. Geddes, Shiran Barber-Zucker, Raz Zarivach, Annie Gagnon, David I. Soybel,…
NUS researchers uncover hereditary mutation that drives aggressive head and neck, and lung cancers in Asian population
New research from the Cancer Science Institute of Singapore at the National University of Singapore revealed a genetic variant in a gene called MET that is responsible for more aggressive growth of head and neck, and lung cancers in Asian populations.