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.

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

Machine learning algorithm effectively identifies individuals with probable familial hypercholesterolemia

The FH Foundation, a leading research and advocacy organization, announced today that a machine learning algorithm effectively identified individuals with probable familial hypercholesterolemia (FH) for the first time at a national scale through its FIND FH initiative.

21 Oct 2019

SOX9 broadly modifies the severity of Alagille syndrome liver disease in mice

Alagille syndrome is a rare pediatric genetic disorder that can affect the liver, heart, kidneys, blood vessels, skeleton and other tissues.

11 Oct 2019

New grants support research on mechanics of tumor cells

At the cellular level, cancer can be viewed as a mechanical engineering challenge. The disease alters the structure and function of cells and tissues, which are meant to perform very specific tasks.

8 Oct 2019

Rare genetic disorder more common than previously thought, report shows

Approximately one in forty-two thousand children are born with a disease called CDKL5 Deficiency Disorder, according to a new medical report recently published in the journal Brain and presented last month at the 13th European Pediatric Neurology Society Congress in Athens, Greece.

4 Oct 2019

Researchers identify gene mutation that causes musculoskeletal problems in children

Researchers have identified a gene mutation that causes developmental delay, intellectual disability, behavioral abnormalities and musculoskeletal problems in children. The newly diagnosed condition, called NKAP-related syndrome, arises from mutations in the NKAP gene, which plays a key role in human development.

3 Oct 2019

New study on gene modulation may help prevent blindness

Genes borrowed from a spider turned Peter Parker into Spiderman. If scientists can use archaea--tiny organisms similar to bacteria--as a source of useful genes for humans, might it help prevent blindness one day?

27 Sep 2019

'A new era of drug discovery’: Company develops drug using AI

For the first time, a company has discovered a drug target and corresponding candidate using artificial intelligence (AI).

26 Sep 2019

Experimental treatment shows early promise to help nearly half of DMD patients

A new therapeutic being tested by University of Alberta researchers is showing early promise as a more effective treatment that could help nearly half of patients with Duchenne muscular dystrophy.

25 Sep 2019

Cheaper drug equally effective in preserving cardiovascular function in boys with DMD

A new clinical trial conducted at The Ohio State University Wexner Medical Center found a cost-effective generic medication works just as well as a more expensive drug in preserving cardiovascular function in boys with Duchenne muscular dystrophy (DMD).

24 Sep 2019

Study: Gene editing may correct genetic mutation responsible for Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is a rare but devastating genetic disorder that causes muscle loss and physical impairments.

18 Sep 2019

Scientists pinpoint cause of fatal genetic disorder in children

Scientists at Washington University School of Medicine in St. Louis appear to have solved a decades-long mystery regarding the precise biochemical pathway leading to a fatal genetic disorder in children that results in seizures, developmental regression and death, usually around age 3.

17 Sep 2019

Chemist explores link between Alzheimer's and copper protein molecules in brain cells

A University of Houston chemist is exploring the link between copper protein molecules in brain cells and neurodegenerative diseases like Alzheimer's.

17 Sep 2019

Children's Tumor Foundation harnesses interest in rare disease research through NF Innovation Week

Neurofibromatosis, a genetic disorder that causes tumors to grow on nerves throughout the body and which affects 1 in 3,000 people - that's over 2.5 million worldwide - has no cure and few workable treatment options.

15 Sep 2019

Computer model could be used to quickly evaluate new drugs for sickle cell disease

A team of Brown University researchers has developed a new computer model that simulates the way red blood cells become misshapen by sickle cell disease.

22 Aug 2019

Important steps to slow down Alzheimer's disease

Alzheimer's Disease is the most common type of dementia. It slowly kills brain cells and is the fifth-leading cause of death for Americans age 65 and over.

31 Jul 2019

Johns Hopkins researchers use nanotechnology to repair faulty brain circuits

Working with mouse and human tissue, Johns Hopkins Medicine researchers report new evidence that a protein pumped out of some — but not all — populations of “helper” cells in the brain, called astrocytes, plays a specific role in directing the formation of connections among neurons needed for learning and forming new memories.

31 Jul 2019

Measuring pupil dilation and heart rate using AI could enable earlier diagnosis of autism

Autism and other neurodevelopmental disorders often aren't diagnosed until a child is a few years of age, when behavioral interventions and speech/occupational therapy become less effective.

24 Jul 2019

Understanding how anti-malarial drug primaquine works lead to more effective malarial therapies

Researchers at LSTM have taken significant steps in understanding the way that the anti-malarial drug primaquine works, which they hope will lead to the development of new, safer and more effective treatments for malaria.

22 Jul 2019