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Study reveals how genetic changes in SCN2A gene impact autism and epilepsy

A genetic change or variant in a gene called SCN2A is a known cause of infantile seizures, autism spectrum disorder and intellectual disability, as well as a wide range of other moderate-to-profound impairments in mobility, communication, eating and vision.

26 Apr 2024

Study highlights nutrition therapy's potential to manage gestational diabetes effectively

Study investigates the effects of medical nutrition therapy on gestational diabetes mellitus, emphasizing the beneficial roles of specific dietary patterns and nutrient supplements in managing this condition effectively.

23 Apr 2024

The path to a better tuberculosis vaccine runs through Montana

A team of Montana researchers is playing a key role in the development of a more effective vaccine against tuberculosis, an infectious disease that has killed more people than any other.

18 Apr 2024

Study identifies the main types of E. coli bacteria that cause neonatal meningitis

A milestone study led by University of Queensland researchers has identified the main types of E. coli bacteria that cause neonatal meningitis, and revealed why some infections recur despite being treated with antibiotics.

16 Apr 2024

Real-world data validates gene therapy for spinal muscular atrophy

Findings from a new study in the Journal of Neuromuscular Diseases, published by IOS Press, demonstrate the effectiveness of disease-modifying treatments (DMTs) in infants with spinal muscular atrophy (SMA).

15 Apr 2024

Novel vaccine approach effective against all virus strains

Scientists at UC Riverside have demonstrated a new, RNA-based vaccine strategy that is effective against any strain of a virus and can be used safely even by babies or the immunocompromised.

15 Apr 2024

Cystic fibrosis drug found to be safe and effective in newborns

A Cystic Fibrosis drug targeting the basic defect that causes the condition has been shown to be safe and effective in newborns aged four weeks and above, new research involving RCSI University of Medicine and Health Sciences and Children's Health Ireland has found.

12 Apr 2024

Researchers elucidate how gene mutation mechanism causes autism

Researchers show how mutations of gene transcription and chromatin regulation-related genes cause autism.

9 Apr 2024

Protein intake during pregnancy affects offspring's facial features

The protein content of the diet during pregnancy can affect the face of the offspring. This is shown in animal studies, and the underlying mechanism was also found in human genetic studies.

5 Apr 2024

Unlocking the secrets of long-lived RNAs in brain cells

After two decades in the United States, Martin Hetzer returned home to Austria in 2023 to become the 2nd President of the Institute of Science and Technology Austria (ISTA).

4 Apr 2024

Lurie Children's Hospital administers first gene therapy for Duchenne muscular dystrophy in Illinois

On March 27, 2024, Ann & Robert H. Lurie Children's Hospital of Chicago treated its first patient with ELEVIDYS (delandistrogene moxeparvovec-rokl), the first gene therapy for Duchenne muscular dystrophy – a rare, genetic disease characterized by progressive muscle damage and weakness.

3 Apr 2024

Rapid increase seen in the diagnosis and treatment of perinatal mental health problems

Mental health issues during pregnancy or the first year of parenthood have a much greater chance of getting detected and treated now than just over a decade ago, a trio of new studies suggests.

1 Apr 2024

Study reveals underdiagnosis and inequities in postpartum depression treatment

Pregnancy and childbirth can be significant stressors on mental health. Nearly one in eight people who have given birth develop postpartum depression, according to the Centers for Disease Control and Prevention.

1 Apr 2024

Skin tape sampling reveals early signs of food allergies in newborns

Food allergies occur often in childhood and can be severe or even fatal. Researchers at National Jewish Health are working to develop a program to prevent food allergies and have now identified early predictors of the condition.

29 Mar 2024

Breakthrough tool illuminates neural stem cell dynamics

Researchers can use the light naturally thrown off by biological specimens to better study the different states of stem cells in the nervous system, thanks to a tool developed at the University of Wisconsin–Madison, brightening their chances for studying the way stem cells age.

27 Mar 2024

WHO and World Bank release alarming report on universal health coverage stagnation

The World Health Organization (WHO) and the World Bank have jointly published the 2023 Universal Health Coverage (UHC) Global Monitoring Report, revealing an alarming stagnation in the progress towards providing people everywhere with quality, affordable, and accessible health care.

27 Mar 2024

Rapid rise in syphilis hits Native Americans hardest

From her base in Gallup, New Mexico, Melissa Wyaco supervises about two dozen public health nurses who crisscross the sprawling Navajo Nation searching for patients who have tested positive for or been exposed to a disease once nearly eradicated in the U.S.: syphilis.

21 Mar 2024

Researchers study newborn piglets to better understand the progression of influenza

Although prevention and treatment strategies are available for influenza, they are not sufficient for vulnerable populations such as young children and newborns.

18 Mar 2024

Hope for PDCD and Cure Mito Foundation unveil joint patient registry

Cure Mito Foundation and Hope for PDCD foundation, both patient-led foundations focused on advancing research and supporting families affected by Leigh syndrome and Pyruvate Dehydrogenase Complex Deficiency (PDCD), respectively, are excited to announce a launch of a PDCD patient registry.

18 Mar 2024