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.

Sapientia genome analysis software by Congenica could cut costs and save lives

Whole genome analysis (WGA) enables rapid diagnosis of rare disease, ensuring that an appropriate course of management and treatment can be administered, possibly within days for acute neonatal cases, cutting the cost of intensive care and potentially saving lives. Rapid diagnosis is one of the many benefits of using the Sapientia™ genome analysis and interpretation platform that Dr Nick Lench, Chief Operating Officer of Congenica, will be discussing at Precision Medicine World Conference (PMWC) 2017 on January 23rd at 3.15pm.

23 Jan 2017

NYU Langone scientists discover mechanism behind many disease-related genetic deletions

Scientists at NYU Langone Medical Center have discovered the mechanisms behind a genetic change known to cause a set of related diseases.

20 Jan 2017

Scientists unravel new genetic immunodeficiency that makes children vulnerable to mild illnesses

A team of scientists led by prof. Adrian Liston and prof. Isabelle Meyts were able to characterize a new genetic immunodeficiency resulting from a mutation in a gene named STAT2.

18 Jan 2017

Knowledge bank approach could help find best treatment option for AML patients

An international collaboration led by clinical researchers at the Wellcome Trust Sanger Institute has shown proof-of-concept that truly personalised therapy will be possible in the future for people with cancer.

17 Jan 2017

DNAstack receives NRC-IRAP funding to build cloud-based genomics software platform

DNAstack, a Toronto based company, today is announcing the investment into its cloud-based genomics software platform from the National Research Council of Canada Industrial Research Assistance Program.

16 Jan 2017

New Vanderbilt Center offers comprehensive care for patients with Marfan syndrome and aortic disease

With the recent opening of the Vanderbilt Marfan Syndrome and Aortic Disorders Center, the state's only comprehensive clinic serving entire families, hundreds of patients with connective tissue disorders now have a one-stop shop for health care.

12 Jan 2017

Surveillance machinery in cells recognizes and destroys defective genetic material, research shows

New research out of Case Western Reserve University School of Medicine describes a mechanism by which an essential quality control system in cells identifies and destroys faulty genetic material. The findings were published online December 23 in Nature Communications.

11 Jan 2017

ACMG advocates sharing of laboratory and clinical genomic data to improve genetic health care

There are an estimated 5,000 - 7,000 rare genetic diseases, each of which can vary dramatically and be caused by a multitude of different genetic changes.

6 Jan 2017

Research findings on sweat glands have potential to improve methods for culturing skin grafts

As early humans shed the hairy coats of their closest evolutionary ancestors, they also gained a distinct feature that would prove critical to their success: a type of sweat gland that allows the body to cool down quickly. Those tiny glands are enormously useful, allowing us to live in a wide variety of climates, and enabling us to run long distances.

4 Jan 2017

Researchers develop first non-human primate X-SCID models using genome editing techniques

Researchers affiliated with the Kawasaki INnovation Gateway at SKYFRONT, have successfully generated the first ever non-human primate X-SCID models by using two genome editing techniques. The findings were published in Cell Stem Cell, July 2016.

3 Jan 2017

AAV-based gene therapy to treat liver disorders advances into human testing

Liver-directed gene therapy delivered using adeno-associated viral (AAV) vectors to treat diseases such as hemophilia have advanced into human testing.

30 Dec 2016

Phase I study of selumetinib drug shows partial response in pediatric neural tumors

In an early-phase clinical trial of a new oral drug, selumetinib, children with the common genetic disorder neurofibromatosis type 1 (NF1) and plexiform neurofibromas, tumors of the peripheral nerves, tolerated selumetinib and, in most cases, responded to it with tumor shrinkage.

29 Dec 2016

Potential drug could become first effective treatment option for Prader-Willi syndrome

Duke Health researchers have identified a drug-like small molecule that, in animal experiments, appears to be an effective treatment for a genetic disorder called Prader-Willi syndrome.

27 Dec 2016

Experimental drug improves survival, growth outcomes in mouse model of Prader-Willi syndrome

Drugs capable of activating silenced genes improve survival and growth outcomes in a mouse model of Prader-Willi syndrome, a rare and incurable childhood disease, according to a study funded by the National Institutes of Health.

27 Dec 2016

FDA approves first drug to treat children and adults with spinal muscular atrophy

The U.S. Food and Drug Administration today approved Spinraza (nusinersen), the first drug approved to treat children and adults with spinal muscular atrophy (SMA), a rare and often fatal genetic disease affecting muscle strength and movement.

23 Dec 2016

Researchers working to develop pill for inherited bleeding disorders

Motivated by the tribulations of hemophilia patients and their families, researchers funded by the National Institute of Biomedical Imaging and Bioengineering are working to develop a pill to treat this serious inherited bleeding disorder.

23 Dec 2016

A Chain of Life for a Rare Neurodegenerative Disease

Researchers in Japan have improved a potential treatment for a rare genetic disease, decreasing its negative toxic effects by threading it onto a dumb-bell-shaped chain and holding it in place until it reaches its target.

22 Dec 2016

TSRI scientists develop new methods to design precision medicines against disease-causing RNAs

Scientists on the Florida campus of The Scripps Research Institute have developed broad methods to design precision medicines against currently incurable diseases caused by RNA.

20 Dec 2016

Low-carbohydrate diet may help reverse inherited intellectual disability linked to Kabuki syndrome

Experimenting on mice with a genetic change similar to that found in people with a rare inherited disease called Kabuki syndrome, Johns Hopkins scientists report that a very low-carbohydrate diet can "open up" DNA and improve mental function.