Down Syndrome News and Research

Latest Down Syndrome News and Research

An extremely rare case report of rebound multi-system inflammatory syndrome in children

Researchers described the case report of an infant boy experiencing rebound MIS-C.

12 Apr 2023

Key memory receptor is localized to interneurons

A key receptor regulating memory formation has been localized to interneurons, according to a study with implications for drug development.

11 Apr 2023

Researchers discover and characterize a novel protein involved in tumor suppression mechanism

Understanding how cancer develops is critical for designing effective, personalized cancer therapies. Researchers have known for years that cancer begins with mutations in certain types of genes.

6 Apr 2023

New genetic animal model may inform potential therapeutic options for Down syndrome

National Institutes of Health researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version to be more similar to the changes seen in humans.

14 Mar 2023

Scientists identify the cause of leukemia in people with trisomy 21

People with a third copy of chromosome 21, known as trisomy 21, are at high risk of developing Acute Myeloid Leukaemia (AML), an aggressive form of blood cancer.

10 Mar 2023

Detection and targeting of splicing deregulation reveal a potential strategy for pAML therapy

Pediatric acute myeloid leukemia or pAML is a childhood blood cancer, one that has proved confounding to clinicians and researchers, with a high relapse rate and relatively few identified genetic mutations (compared to the adult version) that might explain its cause.

8 Mar 2023

Novel predictors of severe respiratory syncytial virus infections among infants below the age of one

Researchers examined predictors for hospitalization due to respiratory syncytial virus (RSV) infections to develop a clinical model for guiding immunization and prophylactic treatment of one-year-old infants against RSV infections.

3 Mar 2023

Brain over-activation could be causing seizures and social deficits in genetic subtype of autism

Northwestern Medicine scientists have identified the cause of a genetic subtype of autism and schizophrenia that results in social deficits and seizures in mice and humans.

28 Feb 2023

Scientists identify mechanisms underlying autoimmunity in Down syndrome

Scientists at the Icahn School of Medicine at Mount Sinai in New York have identified which parts of the immune system go awry and contribute to autoimmune diseases in individuals with Down syndrome.

22 Feb 2023

Scientists illuminate the mechanisms that prevent p53 activation from triggering cancer cell death

Cancer is a disease driven by gene mutations. These mutated genes in cancer fall into two major categories: tumor suppressors and oncogenes.

13 Feb 2023

CHLA launches first clinical trial for Down syndrome regression disorder with $5.3 million NIH grant

Children's Hospital Los Angeles has launched the first clinical trial for Down syndrome regression disorder (DSRD), a rare and debilitating condition that affects adolescents and young adults with Down syndrome.

23 Jan 2023

What is the association between acute lymphoblastic leukemia and congenital cytomegalovirus infection?

Researchers evaluated the relationship between congenital cytomegalovirus (cCMV) infection and acute lymphoblastic leukemia (ALL).

11 Jan 2023

ACMG's new guideline strongly recommends the use of noninvasive prenatal screening for fetal chromosome abnormalities

The American College of Medical Genetics and Genomics (ACMG) has released a new Evidence-Based Clinical Practice Guideline (EBG), "Noninvasive prenatal screening for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics."

16 Dec 2022

Study finds altered spontaneous brain activity in people with Down syndrome

Researchers of the Faculty of Psychology, the Institute of Neurosciences and the Institute of Complex Systems of the University of Barcelona have identified, using functional magnetic resonance techniques, differences in the spontaneous activity of the brain in a resting state in people with Down syndrome (DS) compared to the general population. Also, these variations could be related to cognitive skills.

15 Dec 2022

What Germany’s coal miners can teach America about medical debt

Almost every day, Dr. Eckart Rolshoven sees the long shadow of coal mining in his clinic near the big brownstone church that dominates this small town in Germany's Saarland.

14 Dec 2022

People with Alzheimer’s and Down syndrome may benefit from participating in Alzheimer’s clinical trials

Amyloid plaques — protein clumps that are one of the hallmarks of Alzheimer's disease—occur at roughly the same level in the brains of people with Down syndrome who have Alzheimer's as they do in people with forms of hereditary, early-onset Alzheimer's, according to research funded by the National Institutes of Health.

12 Dec 2022

Many genetic disorders respond well to specialized gene therapy

When the normal DNA sequence in an individual changes or mutates it can cause disease. The mutation may involve multiple genes and may be caused by environmental factors, or there may be chromosomal defects that are harmful at birth, in infancy or environment at a later stage.

12 Dec 2022

Extra year of chemotherapy lowers the risk of cancer recurrence in children with Ikaros leukemia

Many children with ALL have a good outcome of their disease. After two years of chemotherapy treatment, nine out of ten children are cured. But some children have a more aggressive form of the disease.

12 Dec 2022

NIHTB-CB tests found to be sensitive in detecting cognitive change in people with intellectual disability

A major challenge in testing new therapies for people with intellectual disability is finding accurate tools to measure whether the intervention or medication works.

5 Dec 2022

How did the seasonal patterns of RSV infections in 2022 compare with those from other COVID-19 pandemic and pre-pandemic years?

Researchers assessed the impact of the COVID-19 pandemic on the seasonal patterns of RSV infections among young children residing in the US.

5 Dec 2022

Down Syndrome News and Research

Latest Down Syndrome News and Research

An extremely rare case report of rebound multi-system inflammatory syndrome in children

Key memory receptor is localized to interneurons

Researchers discover and characterize a novel protein involved in tumor suppression mechanism

New genetic animal model may inform potential therapeutic options for Down syndrome

Scientists identify the cause of leukemia in people with trisomy 21

Detection and targeting of splicing deregulation reveal a potential strategy for pAML therapy

Novel predictors of severe respiratory syncytial virus infections among infants below the age of one

Brain over-activation could be causing seizures and social deficits in genetic subtype of autism

Scientists identify mechanisms underlying autoimmunity in Down syndrome

Scientists illuminate the mechanisms that prevent p53 activation from triggering cancer cell death

CHLA launches first clinical trial for Down syndrome regression disorder with $5.3 million NIH grant

What is the association between acute lymphoblastic leukemia and congenital cytomegalovirus infection?

ACMG's new guideline strongly recommends the use of noninvasive prenatal screening for fetal chromosome abnormalities

Study finds altered spontaneous brain activity in people with Down syndrome

What Germany’s coal miners can teach America about medical debt

People with Alzheimer’s and Down syndrome may benefit from participating in Alzheimer’s clinical trials

Many genetic disorders respond well to specialized gene therapy

Extra year of chemotherapy lowers the risk of cancer recurrence in children with Ikaros leukemia

NIHTB-CB tests found to be sensitive in detecting cognitive change in people with intellectual disability

How did the seasonal patterns of RSV infections in 2022 compare with those from other COVID-19 pandemic and pre-pandemic years?

Small solutions for big problems in drug discovery and delivery

Professor Nancy Ip: Pioneering New Paths in Neurodegenerative Therapy

Utilizing process Raman in optimizing cultivated meat production

Down Syndrome News and Research

Latest Down Syndrome News and Research

Small solutions for big problems in drug discovery and delivery

Professor Nancy Ip: Pioneering New Paths in Neurodegenerative Therapy

Utilizing process Raman in optimizing cultivated meat production

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