Medical research
Promising study offers hope for Menkes disease patients
A Texas A&M AgriLife Research team has good news for patients with copper-deficiency disorders, especially young children diagnosed with Menkes disease.
May 8, 2020
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Page 2 - News tagged with rare genetic disorder
Autism spectrum disorders
Autism genes are in all of us, new research reveals
New light has been shed on the genetic relationship between autistic spectrum disorders (ASD) and ASD-related traits in the wider population, by a team of international researchers including academics from the University ...
Mar 21, 2016
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Genetics
Researchers using 3-D facial scans to aid diagnosis of children with rare genetic syndrome
Clemson University faculty have been awarded a grant from the National Institutes of Health to investigate the use of 3-D imaging that could allow for quicker diagnosis of children with Phelan-McDermid syndrome, a rare genetic ...
Oct 10, 2018
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Genetics
Xeroderma pigmentosum study tests artificial antisense oligonucleotides as therapeutic
Genetic researchers at Nagoya University, Japan, have delved into the genetic underpinning of a rare skin condition affecting children that is unusually common in Japan.
Medications
First drug for rare rapid-aging disease extends kids' lives
The first drug was approved Friday for a rare genetic disorder that stunts growth and causes rapid aging in children, after studies showed it can extend their lives.
Nov 21, 2020
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Surgery
First US recipient of partial face transplant dead at 57
Connie Culp, the first US recipient of a partial face transplant, has died at age 57, according to Ohio's Cleveland Clinic, where she underwent the delicate operation nearly 12 years ago.
Aug 2, 2020
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Genetics
Broad spectrum of autism depends on spectrum of genetic factors
Autism Spectrum Disorder (ASD) is referred to as a "spectrum" because clinical features of ASD range from mild social impairments in some people to severe intellectual disability or epilepsy in others. Genetic studies have ...
Jun 2, 2022
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Medical research
Persistent DNA damage in the placenta affects pregnancy outcomes
Scientists at the Stowers Institute for Medical Research have shown that a dysfunctional placenta can play a previously unrecognized role during the earliest stages of development in mouse models of Cornelia de Lange syndrome. ...
Jun 16, 2020
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Immunology
Researchers identify an enzyme as a major culprit of autoimmune diseases
Activating an enzyme that sounds an alarm for the body's innate immune system causes two lethal autoimmune diseases in mice, while inhibiting the same enzyme rescues them, UT Southwestern Medical Center researchers report.
Oct 27, 2015
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Oncology & Cancer
Starving pancreatic cancer of cysteine may kill tumor cells
A new study from Columbia University Irving Medical Center and the Herbert Irving Comprehensive Cancer Center suggests a compound in development for a rare kidney stone disease may have potential against pancreatic cancer. ...
Apr 2, 2020
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