Tag

Down Syndrome

All articles tagged with #down syndrome

health1 month ago•30 min saved

Weight-loss surgery emerges as option for obese teens in the Philly region

A Swedesboro family in the Philly area pursued sleeve gastrectomy for their 15-year-old son with Down syndrome, leading to about 70 pounds lost and renewed energy for activities, illustrating that metabolic and bariatric surgery can be a safe, effective option for adolescents with obesity when backed by thorough medical and psychological evaluation. Yet fewer than 1% of eligible youths receive this intervention, and new guidelines since 2023 advocate considering weight-loss medications and surgical options earlier alongside lifestyle changes.

via WHYY|

#down-syndrome #health #obesity

science1 month ago•3 min saved

Researchers test CRISPR/XIST approach to turn off extra chromosome in Down syndrome cells

A study from Beth Israel Deaconess Medical Center and Harvard uses a modified CRISPR/Cas9 to insert the chromosome-silencing XIST RNA into trisomy 21 cells, silencing the extra chromosome in a subset of cell lines and offering a potential path toward chromosomal therapy for Down syndrome, but much work remains to assess safety, delivery, and whether effects translate to animals and humans.

via Gizmodo|

#chromosomal-therapy #crispr #down-syndrome

health2 months ago•7 min saved

Seizure drug levetiracetam shows potential to prevent Alzheimer's by halting toxic protein buildup

Northwestern University researchers report that the anti-seizure drug levetiracetam blocked the production of amyloid-beta 42 in animal models, cultured human neurons, and post-mortem Down syndrome brain tissue, suggesting a possible Alzheimer’s prevention mechanism by stopping toxic protein formation. The findings are preclinical and observational with no human trials yet, and experts caution that any preventive use would require very early treatment and consideration of side effects, while researchers pursue longer-lasting versions and plans for human testing.

via Fox News|

#alzheimers-disease #amyloid-beta-42 #down-syndrome

science4 months ago•3 min saved

Protein Restoration May Rewire Brain in Down Syndrome

Research shows that delivering the protein pleiotrophin (Ptn) to astrocytes in the brain can reverse neural connection and activity changes in mouse models of Down syndrome, suggesting potential for future therapies targeting brain wiring in neurodevelopmental disorders.

via PsyPost|

#astrocytes #brain-rewiring #down-syndrome

health-and-medicine7 months ago•76 min saved

HMGN1's Role in Heart Defects in Down Syndrome

The study identifies HMGN1 as a dosage-sensitive gene on chromosome 21 that influences heart defects in Down syndrome, demonstrating that its increased expression reprograms heart cell identity and that reducing its dosage in mouse models rescues cardiac abnormalities.

via Nature|

#cardiac-development #chromosomal-genes #down-syndrome

science8 months ago•5 min saved

Hidden DNA Process Tied to Fertility, Miscarriage, and Down Syndrome Risks

Research by Neil Hunter's team uncovers how proteins safeguard chromosome crossovers during egg and sperm development, with implications for understanding fertility issues, miscarriages, and genetic conditions like Down syndrome, by studying the conserved process in yeast that mirrors human biology.

via ScienceDaily|

#chromosome-crossover #dna-process #down-syndrome

science-and-health10 months ago•112 min saved

Japanese Scientists Use CRISPR to Target and Remove Chromosome Linked to Down Syndrome

Scientists may have discovered a method to eliminate the chromosome linked to Down syndrome, raising hopes for potential prevention but also sparking ethical debates about eugenics and genetic modification.

via Hacker News|

#chromosome-elimination #down-syndrome #ethical-considerations

entertainment2 years ago•1 min saved

"Chris Burke Defends Shane Gillis' 'SNL' Monologue Controversy"

Chris Burke, the first actor with Down Syndrome to star in a TV series, has defended comedian Shane Gillis over his controversial "Saturday Night Live" monologue, stating that people with Down Syndrome should not be excluded from being joked about by comedians. Burke believes that excluding people with Down Syndrome from being the subjects of jokes would be more offensive, and he sees some positives in Shane's monologue sparking a conversation about the condition.

via TMZ|

#chris-burke #comedy #down-syndrome

archaeologygenetics2 years ago•4 min saved

"Unearthing Down Syndrome: Ancient DNA Reveals Genetic Signatures in Historic Humans"

A new study analyzing the DNA of almost 10,000 people from ancient and pre-modern societies has identified 6 cases of Down syndrome in past human populations, with one specimen dating back 5,500 years. The research aims to trace the origins of these individuals and understand how prehistoric societies treated people with Down syndrome and other rare conditions. The study, led by researchers at the Max Planck Institute for Evolutionary Anthropology, utilized a new statistical model to identify these cases and shed light on the treatment and integration of individuals with genetic conditions in ancient communities.

via Ancient Origins|

#ancient-dna #archaeologygenetics #down-syndrome

archaeology2 years ago•3 min saved

"Down Syndrome in Ancient Societies: Noble Burials and Genetic Signatures"

DNA analysis of ancient human remains dating back 5,000 years revealed six individuals with Down Syndrome, indicating that they were recognized and given noble burials in their respective communities. The research also uncovered an individual with Edwards Syndrome, a more severe genetic condition. The findings shed light on the care and appreciation these individuals received in ancient societies, providing insight into how ancient communities reacted to individuals with special needs.

via Daily Mail|

#ancient-dna #archaeological-research #archaeology

science2 years ago•1 min saved

"Uncovering Ancient Down Syndrome Cases Through Genetic Signatures"

Scientists have identified the genetic signature of Down syndrome in ancient bones of seven infants, some dating back 5,500 years, shedding light on how prehistoric societies may have treated individuals with rare conditions. The method, published in Nature Communications, may provide insight into the historical prevalence and treatment of Down syndrome, which is caused by an extra copy of chromosome 21 and can result in various health challenges. This discovery challenges the difficulty of confidently diagnosing ancient skeletons with Down syndrome due to its variable nature.

via The New York Times|

#ancient-bones #dna #down-syndrome

archaeology2 years ago•3 min saved

"Uncovering Down Syndrome in Ancient Societies Through Genetic Analysis"

Researchers analyzing ancient DNA have identified six individuals from past societies with Down syndrome, dating back to between 5,000 and 2,500 years before present in Bronze Age sites in Greece and Bulgaria, and Iron Age sites in Spain. The individuals were found to have been cared for and appreciated as part of their ancient societies, with one individual also discovered to have Edwards Syndrome. The findings shed light on how ancient societies reacted to individuals with genetic conditions and may lead to further research in the future.

via Phys.org|

#ancient-genomes #ancient-societies #archaeology

entertainment2 years ago•1 min saved

'Life Goes On' Actress Andrea Fay Friedman Passes Away at 53

Andrea Fay Friedman, best known for her role on the TV show "Life Goes On," has passed away at the age of 53. Friedman, who had Down syndrome, died from complications of Alzheimer's disease. Her portrayal of a character with developmental disabilities on "Life Goes On" was groundbreaking and paved the way for more representation. Friedman also appeared on other shows such as "ER" and "Law and Order: SVU."

via NewsNation Now|

#alzheimers-disease #andrea-fay-friedman #down-syndrome

entertainment2 years ago•2 min saved

Andrea Fay Friedman, 'Life Goes On' Actress with Down Syndrome, Passes Away at 53

Andrea Fay Friedman, the actor with Down syndrome known for her role in the TV series "Life Goes On," has passed away at the age of 53 due to complications from Alzheimer's disease. Friedman's portrayal of a character with Down syndrome on the show was groundbreaking and helped provide a fully-rounded depiction of people with the syndrome. In addition to her acting career, Friedman was involved in advocacy work and worked with U.C.L.A.'s Pathway program for students with intellectual disabilities. She is survived by her father, sister, and nephews.

via Deadline|

#acting-career #alzheimers-disease #andrea-fay-friedman

entertainment2 years ago•2 min saved

'Life Goes On' Star Andrea Fay Friedman Passes Away at 53

Andrea Fay Friedman, known for her groundbreaking role in the TV drama Life Goes On, has passed away at the age of 53. She died from complications of Alzheimer's disease, which is common in individuals with Down syndrome over the age of 50. Friedman, who had Down syndrome herself, used her platform to challenge stigmas and educate the world about people with the condition. She also appeared in other TV shows, including Family Guy, and worked as an assistant teacher at UCLA's Pathways program.

via Entertainment Weekly News|

#alzheimers-disease #andrea-fay-friedman #down-syndrome