Domain EYEION.com for sale! This premium domain is available now at Kadomain.com

Researchers identify instances of SYNGAP1-related disorders caused by inherited genetic variants

  • medicalxpress.com language
  • 2025-06-19 22:19 event
  • 2 months ago schedule
Researchers identify instances of SYNGAP1-related disorders caused by inherited genetic variants
Researchers at Children's Hospital of Philadelphia (CHOP) have found that in rare instances, variants responsible for SYNGAP1-related disorders—a group of disorders characterized by developmental delay and often associated with epilepsy—can be inherited from a parent, which could help influence family planning, genetic variant interpretation, and other aspects of clinical care.

2.948. Targeting fusion protein's role in childhood leukemia produces striking results

  • 2 months ago schedule
  • medicalxpress.com language

Scientists at St. Jude Children's Research Hospital and Dana-Farber Cancer Institute today report the identification of a novel combination therapy approach to treat pediatric acute myeloid leukemia (AML). Standard treatment is often ineffective against AML, a cancer that commonly relapses with poor prognosis, particularly when the disease is fueled by fusion proteins involving NUP98.

2.949. Popular period-tracking apps can hold years of personal data—new NZ research finds mixed awareness of risk

  • 2 months ago schedule
  • medicalxpress.com language

Period-tracking apps are popular digital tools for a range of menstrual, reproductive and general health purposes. But the way these apps collect and use data involves risk.

2.950. Maui residents' recovery sees gains, but health and housing challenges persist

  • 2 months ago schedule
  • medicalxpress.com language

Nearly two years after the devastating August 2023 wildfires, new findings from the largest post-disaster health study in Hawaiʻi's history—led by the University of Hawaiʻi—paint a complex picture: steady progress in some areas of recovery, but continued health and housing challenges, particularly for children and vulnerable groups.

2.951. Brain training can make physical exercise more enjoyable, study shows

  • 2 months ago schedule
  • medicalxpress.com language

If the idea of going to the gym makes you moan and groan, you're not alone.

2.952. Open technique is best surgical approach for exposing impacted canines in children, study finds

  • 2 months ago schedule
  • medicalxpress.com language

A new study has gained international attention for providing clear, research-based answers to a question dentists worldwide have debated for years: Should an open or closed surgical technique be used when children have canine teeth that fail to erupt in the upper jaw? Some of the study's results have now been published in the American Journal of Orthodontics and Dentofacial Orthopedics and were highlighted by the British orthodontic blogger Kevin O'Brien.

2.953. The seasonal challenge of disease prevention: How behavior and infection rates create repeating outbreak patterns

  • 2 months ago schedule
  • medicalxpress.com language

New research reveals how seasonal diseases impact our willingness to follow health measures. People are less likely to follow protective measures when infection levels drop, leading to seasonal surges in disease.

2.954. Optometrist develops app with the best easy blinking exercises to improve dry eye symptoms

  • 2 months ago schedule
  • medicalxpress.com language

An Aston University optometrist, Professor James Wolffsohn, has determined an optimum blinking exercise routine for people suffering with dry eye disease, and has developed a new app, MyDryEye, to help them complete the routine to ease their symptoms. The research is published in the journal Contact Lens and Anterior Eye.

2.955. Immunotherapy drug improves high-risk blood cancer outcomes in clinical trial

  • 2 months ago schedule
  • medicalxpress.com language

A Peter Mac-initiated clinical trial suggests a way to dramatically improve outcomes in patients with high-risk forms of large B-cell lymphoma, who otherwise have a 50% chance of cure from conventional therapy.

2.956. Why migraine symptoms are worse in patients who get little sleep

  • 2 months ago schedule
  • medicalxpress.com language

For the first time, researchers have studied what happens in the brains of people who have migraines when they haven't slept enough: The mechanisms in the brain that should reduce pain don't work as well.

2.957. Researchers identify instances of SYNGAP1-related disorders caused by inherited genetic variants

  • 2 months ago schedule
  • medicalxpress.com language

Researchers at Children's Hospital of Philadelphia (CHOP) have found that in rare instances, variants responsible for SYNGAP1-related disorders—a group of disorders characterized by developmental delay and often associated with epilepsy—can be inherited from a parent, which could help influence family planning, genetic variant interpretation, and other aspects of clinical care.

2.958. Multi-omic data can identify silent and stable risk profiles in healthy individuals

  • 2 months ago schedule
  • medicalxpress.com language

A multidisciplinary team has taken a step forward in the field of precision medicine with the publication of a study that highlights the value of integrating multiple layers of biological information—genomic, metabolomic, and lipoproteomic—to identify individuals with underlying molecular risk despite being apparently healthy and without relevant clinical manifestations.

2.959. BPA and retinoic acid together can disrupt brain development by altering gene expression

  • 2 months ago schedule
  • medicalxpress.com language

Synthetic chemicals and plastics are useful and indispensable in our lives. On the other hand, the world is grappling with plastic pollution—clogging oceans, threatening wildlife, and leaching into ecosystems. While eco-friendly alternatives are on the way, researchers have been trying to identify the various effects of the synthetic plastics present within the ecosystem.

2.960. Community-based mentoring in Sierra Leone for pregnant adolescents and their babies doubles survival rates

  • 2 months ago schedule
  • medicalxpress.com language

An innovative community-based mentoring scheme for pregnant adolescent girls in Sierra Leone has been found to save lives, while also helping girls return to education.

2.961. Wandering uteruses and far-reaching tubes: The surprising mobility of the female reproductive tract

  • 2 months ago schedule
  • medicalxpress.com language

The ancient wandering womb theory suggested that many ailments in women were caused by the uterus becoming dislodged and roaming the body in search of moisture.

2.962. Self-esteem surges within one year of weight-loss surgery, study finds

  • 2 months ago schedule
  • medicalxpress.com language

Self-esteem scores more than doubled within one year of weight-loss surgery, according to a new study presented today at the American Society for Metabolic and Bariatric Surgery (ASMBS) 2025 Annual Scientific Meeting.

2.963. An ER doctor's guide to staying safe in summer heat

  • 2 months ago schedule
  • medicalxpress.com language

As summer temperatures rise, a Houston emergency room doctor is sharing important tips to help folks stay safe while outdoors.

2.964. CDC staffing upheaval disrupts HIV projects and wastes money, researchers say

  • 2 months ago schedule
  • medicalxpress.com language

Dozens of HIV experts at the Centers for Disease Control and Prevention received emails earlier in June revoking notices they received 10 weeks ago that laid them off. Damage to their projects may be permanent, however, and ongoing restrictions on their research will harm lives, multiple HIV scientists at the CDC told KFF Health News on condition of anonymity because of fears of retaliation.

2.965. Five-day vascular organoids speed tissue engineering research

  • 2 months ago schedule
  • medicalxpress.com language

Boston Children's Hospital scientists have unveiled a five-day approach to generate functional vascular organoids capable of supporting blood flow and in vivo engraftment.

2.966. A cancer patient's sense of agency can shift rapidly—meanings matter

  • 2 months ago schedule
  • medicalxpress.com language

A cancer patient's sense of agency as an active individual is not fixed, according to a study from the University of Eastern Finland. The study, published in Qualitative Health Research, explored how a cancer patient's experience of agency, i.e., their sense of being able to influence their life, changes during diagnosis and treatment, as well as in response to wider societal crises. Conducted as a co-research project, the study followed the long-term experience of a single patient.

Cookie Policy

We use cookies and similar technologies to help the site provide a better user experience. By using the website you agree to our Cookie Policy, Terms of Use and Privacy Policy.