Genetic Disorder News and Research

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A genetic disorder is a disease caused in whole or in part by a "variation" (a different form) or "mutation" (alteration) of a gene.

Starving pancreatic cancer cells of cysteine may induce tumor ferroptosis

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.

2 Apr 2020

Model that sheds light on severe Duchenne muscular dystrophy could pave the way for new therapies

Researchers have developed an experimental model of severe Duchenne muscular dystrophy that offers insight into the disease.

26 Mar 2020

New test to measure expressive language skills of people with Fragile X syndrome

Researchers have developed a test to measure the expressive language skills of people with Fragile X syndrome, a genetic disorder that may result in intellectual disability, cognitive impairment and symptoms of autism spectrum disorder.

25 Mar 2020

Two common Staph bacteria living on human skin exacerbate Netherton syndrome

Netherton syndrome, a rare skin disease caused by a single genetic mutation, is exacerbated by the presence of two common Staphylococcal bacteria living on human skin, one of which was previously thought to only offer protective properties, report University of California San Diego School of Medicine researchers.

3 Mar 2020

Plant-based relatives of cholesterol could boost gene-infused nanoparticle delivery

Gene-infused nanoparticles used for combating disease work better when they include plant-based relatives of cholesterol because their shape and structure help the genes get where they need to be inside cells.

20 Feb 2020

Wayne State researchers receive grant to develop new treatments for Barth syndrome

Barth syndrome is a rare and life-threatening, X-linked genetic disorder that primarily affects males and is passed from mother to son; women who are carriers do not show symptoms of the disorder.

16 Feb 2020

New study provides clear picture of brain abnormalities associated with schizophrenia

What if the key to a better understanding of schizophrenia has been here all along--but researchers haven't had the resources to study it?

12 Feb 2020

New test allows earlier identification of children at risk for cystic fibrosis liver disease

A major multi-center investigation of children with cystic fibrosis has identified a test that allows earlier identification of those at risk for cystic fibrosis liver disease.

12 Feb 2020

Holistic and data-driven health assessment can help achieve early disease detection

Human Longevity, Inc., an innovator in providing data-driven health intelligence and precision health to physicians and patients, announced today the publication of a ground-breaking study in the journal Proceedings of the National Academy of Sciences.

27 Jan 2020

Healing and hope for families affected by fragile X in Eastern Europe

Mothers and fathers and their young children crowded into an old, government-run children's hospital in Belgrade, Serbia, colorful, cartoonish drawings covering its hallway walls. Parents struggled to soothe their anxious, wriggly boys and girls. But they were patient, polite. It was, after all, a day unlike any other. A day for hope.

23 Jan 2020

Researchers find key to preventing muscular dystrophy-related heart disease

A Rutgers-led team may have found the key to preventing Duchenne muscular dystrophy (DMD)-related heart disease, the leading cause of death in patients living with the disease.

14 Jan 2020

Some genetic sequencing misses out large parts of the genome

A study of patient samples has found that more than a quarter of genes are missed in genetic sequencing procedures.

7 Jan 2020

Researchers identify rare genetic disorder

A team of South Australian researchers has cracked a rare gene variant for a disorder that sees a normal healthy child start to lose muscle tone and motor skills, ultimately losing the capacity to walk and use language.

16 Dec 2019

Precision epigenome editing can repair genetic syndrome of intellectual disability

Using a targeted gene epigenome editing approach in the developing mouse brain, Johns Hopkins Medicine researchers reversed one gene mutation that leads to the genetic disorder WAGR syndrome, which causes intellectual disability and obesity in people.

13 Dec 2019

Hibernators reveal genetic clues to better understand and treat obesity, metabolic disorders

Hibernation is one of nature's strangest quirks, inducing bears and other mammals to pack on massive weight- amounts that would be unhealthy for humans-;so they can survive months of slumber. Yet when these animals reemerge, they are as fit as ever.

27 Nov 2019

CTF, DELopen jointly offer unique opportunities to neurofibromatosis research community

The Children's Tumor Foundation, an innovative and global neurofibromatosis (NF) research foundation announced today a collaboration with DELopen, a DNA-encoded library technology platform sponsored by WuXi AppTec, a leading global provider of R&D and manufacturing services enabling companies in the pharmaceutical, biotechnology and medical device industries.

19 Nov 2019

UCI researchers develop new cell therapy to improve memory, prevent seizures after TBI

Researchers from the University of California, Irvine developed a breakthrough cell therapy to improve memory and prevent seizures in mice following traumatic brain injury.

15 Nov 2019

FDA grants acceptance to application for selumetinib as treatment for neurofibromatosis

AstraZeneca and MSD (Merck) announced today that the U.S. Food and Drug Administration (FDA) has granted acceptance to file status of its application for the MEK inhibitor selumetinib, for use in patients with plexiform neurofibromas, a common manifestation in the disease neurofibromatosis type one (NF1).

14 Nov 2019

Children's National receives new funding to strengthen global polycystic kidney disease initiative

Lisa M. Guay-Woodford, M.D., McGehee Joyce Professor of Pediatrics at Children's National Hospital, has received a $5.7 million dollar gift to support clinical and research activities.

13 Nov 2019

Findings could lead to potential new therapies for tumor-causing disorder

University of Cincinnati researchers have found additional ways to target the molecular processes involved in activating a certain protein complex to potentially develop new therapies for a tumor-causing disorder.

11 Nov 2019