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.

Researchers elucidate mechanism by which blood and lymph vessels remain separated

Researchers from Kumamoto University (Japan) have clarified the mechanism by which blood and lymph vessels remain segregated from one another after development.

6 Feb 2021

Spark Therapeutics launches gene therapy clinical trial for late-onset Pompe disease

Pompe disease is a hereditary genetic disorder caused by a deficiency of acid alpha-glucosidase leading to build-up of glycogen in the lyosomes, which then causes cell damage in various tissues, in particular the heart, the muscles, the liver and the nervous system.

3 Feb 2021

Scientists discover potential drug target for Hutchinson-Gilford progeria syndrome

New study describes a potential drug target for Hutchinson-Gilford progeria syndrome that may aid in the development of more effective treatments.

2 Feb 2021

Genetic interactions may shed light on NGLY1 deficiency

In 2012, four-year-old Bertrand Might became the first-ever patient diagnosed with a rare genetic disorder called N-glycanase (NGLY1) deficiency. The discovery of this condition and Bertrand's diagnosis allowed doctors to look for other children with the same genetic defect. Since then, more than 60 additional patients have been found.

26 Jan 2021

Researchers discover rare genetic disorder that affects the brain, heart and facial features

Researchers at the National Institutes of Health have discovered a new genetic disorder characterized by developmental delays and malformations of the brain, heart and facial features.

20 Jan 2021

New drug reduces tumor volume and pain in patients with neurofibromatosis type 1

Based on preclinical studies of an investigational drug to treat peripheral nerve tumors, researchers at Children's Hospital of Philadelphia (CHOP) as part of the Neurofibromatosis Clinical Trials Consortium have shown that the drug, cabozantinib, reduces tumor volume and pain in patients with the genetic disorder neurofibromatosis type 1 (NF1).

15 Jan 2021

The Marlene and Spencer Hays Foundation awards $68,000 grant to COMBINEDBrain

Established in 2019 in Nashville, COMBINEDBrain is a non-profit consortium of patient advocacy groups, researchers and clinicians working together to fast-track cures and therapies for individuals afflicted with rare genetic neurodevelopmental disorders.

13 Jan 2021

Study sheds new light on the role of MLL4 gene in Kabuki syndrome

Scientists have known for years that mutations in the MLL4 gene can cause Kabuki syndrome, a rare developmental disorder.

11 Jan 2021

Gene therapy can effectively treat mice with tuberous sclerosis complex, shows study

Patients with tuberous sclerosis complex, a genetic disorder characterized by the growth of noncancerous tumors in multiple organs of the body, have limited treatment options.

8 Jan 2021

Scientists discover molecular defects associated with rare genetic disorder in children

Damien D'Amours and his team at the Ottawa Institute of Systems Biology needed three years to discover the molecular defects associated with the LIC Syndrome, a serious genetic disorder that affects young children and result in acute respiratory distress, immune deficiency and abnormal chromosomes.

22 Dec 2020

Research illuminates regulatory mechanism of ubiquitin-proteasome system in DNA damage repair

An international research team has clarified the regulatory mechanism of the ubiquitin-proteasome system in recognizing and repairing DNA that has been damaged by ultraviolet (UV) light.

8 Dec 2020

Otsuka Pharmaceutical enters into global agreement with Columbia University School of Public Health

Otsuka Pharmaceutical Development & Commercialization, Inc., announced an agreement with research experts from the Columbia University Irving Center Vagelos College of Physicians and Surgeons and Mailman School of Public Health to help support the epidemiological needs of Otsuka Global Pharmacovigilance (GPV) for products, enhanced training, and employee education.

25 Nov 2020

New data highlights the gaps in care for children with familial hypercholesterolemia

Children born with a common genetic condition, familial hypercholesterolemia (FH), are at increased risk for atherosclerotic cardiovascular disease (ASCVD) early in life.

18 Nov 2020

New technology precisely diagnoses sickle cell disease in a minute

Researchers at the University of Colorado Boulder and the University of Colorado Anschutz Medical Campus have developed a new way to diagnose diseases of the blood like sickle cell disease with sensitivity and precision and in only one minute.

15 Oct 2020

Small molecule restores normal heart development in animal model with rare genetic disorder

A research team at the Greenwood Genetic Center has successfully used small molecules to restore normal heart and valve development in an animal model for Mucolipidosis II (ML II), a rare genetic disorder. Progressive heart disease is commonly associated with ML II.

15 Oct 2020

People with one albinism gene mutation may be prone to pale-colored melanomas

People with pale-colored melanomas are more likely to have a gene mutation associated with albinism, University of Queensland research has found.

25 Sep 2020

Removing copper from blood can destroy deadliest cancers that are resistant to immunotherapy

Australian researchers have discovered that removing copper from the blood can destroy some of the deadliest cancers that are resistant to immunotherapy using models of the disease.

19 Aug 2020

Research shows how a protein stops cells from attacking their own DNA

Viruses multiply by injecting their DNA into a host cell. Once it enters the intracellular fluid, this foreign material triggers a defense mechanism known as the cGAS-STING pathway.

14 Aug 2020

FDA approves new treatment option for patients with rare Duchenne muscular dystrophy mutation

Today, the U.S. Food and Drug Administration granted accelerated approval to Viltepso (viltolarsen) injection for the treatment of Duchenne muscular dystrophy (DMD) in patients who have a confirmed mutation of the DMD gene that is amenable to exon 53 skipping.

12 Aug 2020

Specific gene impairment may also protect people with Down syndrome

Scientists from Stanley Manne Children's Research Institute at Ann & Robert H. Lurie Children's Hospital of Chicago discovered that a set of genes with decreased expression in individuals with Down syndrome may lead to clinical abnormalities in this population, such as poor muscle development and heart valve problems.

6 Aug 2020