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.

Population-scale DNA test could make personalized medicine effective and affordable for all

Estonian citizens could become significantly healthier following the launch of a pioneering nationwide DNA testing program.

29 Jun 2019

FDA expands approval of cystic fibrosis treatment to include pediatric patients as young as 6 years old

The U.S. Food and Drug Administration today expanded the indication for Symdeko (a combination of tezacaftor/ivacaftor) tablets for treatment of pediatric patients ages 6 years and older with cystic fibrosis who have certain genetic mutations.

22 Jun 2019

New mutation discovered in the leptin gene

The global obesity epidemic is so far-reaching it now has an overarching name: globesity. Texas Biomed Staff Scientist Raul Bastarrachea, M.D., is part of a team that discovered a new mutation in the gene that regulates the key hormone suppressing hunger called leptin.

22 Jun 2019

Scientists identify early signs of Parkinson’s disease years before symptoms develop

Scientists have identified the earliest signs of Parkinson’s disease in the brain up to 20 years before patients present with any symptoms.

20 Jun 2019

New discovery could improve therapies for Duchenne muscular dystrophy

A new multi-institution study spearheaded by researchers at Florida State University and the University of California, Los Angeles suggests a tiny protein could play a major role in combating heart failure related to Duchenne muscular dystrophy (DMD), the most common lethal genetic disorder among children.

16 Jun 2019

New statement emphasizes need for special multidisciplinary clinical programs

With a better understanding of how various heart conditions are inherited, and the availability of faster and less expensive genetic testing, there is need for more specialized multidisciplinary clinical programs that combine focused expertise in heart disease and genetics, according to a new statement from the American Heart Association, the world's leading voluntary organization focused on heart and brain health.

25 May 2019

Children's Tumor Foundation establishes significant research initiative to combat NF2

On the occasion of World NF2 Awareness Day, the Children's Tumor Foundation has announced the establishment of a significant research initiative dedicated to finding effective treatments for NF2, along with a substantial investment of $2.3 million in this bold new effort.

23 May 2019

Researchers evaluate risk factors and outcomes for young adults with familial hypercholesterolemia

Heart attacks among adults younger than 50 years of age are on the rise. In fact, the proportion of very young people has been increasing, rising by 2 percent each year for the last 10 years, according to a team of investigators a Brigham and Women's Hospital who are focused on studying heart attacks among young adults.

22 May 2019

$150,000 grant will support research on spinal muscular atrophy

EL PASO, Texas-Cure SMA recently awarded a $150,000 research grant to Laxman Gangwani, Ph.D., associate professor of Molecular and Translational Medicine, Center of Emphasis in Neurosciences, at TTUHSC El Paso's Paul L. Foster School of Medicine.

2 May 2019

Sleep problems in autism may be linked to gene mutation

Up to 80 percent of children with autism spectrum disorder experience sleep problems.

29 Apr 2019

New gene therapy cures babies with fatal 'Bubble Boy' disease

A new gene therapy created by US researchers appears to have cured eight infant boys born with a rare genetic disorder referred to as “Bubble Boy” disease.

18 Apr 2019

Researchers find presence of Aire gene in lymph nodes

The thymus is the organ in which T cells differentiate. T cells express various T cell receptors for reacting with various pathogenic microbes and viruses.

11 Apr 2019

Dietary fiber could help prevent chronic obstructive pulmonary disease

Dietary fiber may be a new tool in the prevention of progressive lung disease, thanks to the production of anti-inflammatory short chain fatty acids, according to a new study by Australia's Priority Research Centre for Healthy Lungs at University of Newcastle, and the Centre for Inflammation, a partnership between The University of Technology Sydney and Centenary Institute.

5 Apr 2019

Royal Holloway professors to lead new to research into curing Neurofibromatosis type 1

Linda Popplewell, Lecturer in Biomedical Sciences, and world-renowned Professor George Dickson, from the School of Biological Sciences, both at Royal Holloway, will lead a team looking for a treatment for NF1, a genetic disorder that causes tumors to form on nerve tissue.

20 Mar 2019

Study brings clarity about milk intake for children with Duarte galactosemia

Milk can be lethal to babies with classic galactosemia, a rare genetic disorder that severely impairs the body's ability to process a milk sugar known as galactose and is associated with a host of neurodevelopmental issues.

19 Mar 2019

Liver tissue model can help investigate the effects of RNA interference

Novel therapies based on a process known as RNA interference hold great promise for treating a variety of diseases by blocking specific genes in a patient's cells. Many of the earliest RNAi treatments have focused on diseases of the liver, because RNA-carrying particles tend to accumulate in that organ.

6 Mar 2019

Newly designed molecule could benefit people with Friedrich's Ataxia

Skin cells taken from patients with a rare genetic disorder are up to ten times more sensitive to damage from ultraviolet A radiation in laboratory tests, than those from a healthy population, according to new research from the University of Bath.

21 Feb 2019

Newly developed gene therapy helps decelerate aging process

Aging is a leading risk factor for a number of debilitating conditions, including heart disease, cancer and Alzheimer's disease, to name a few. This makes the need for anti-aging therapies all the more urgent. Now, Salk Institute researchers have developed a new gene therapy to help decelerate the aging process.

20 Feb 2019

Newly discovered genetic disorder opens way for future diabetes drugs

Knowledge of a newly discovered genetic disorder, which means that a person cannot produce the protein TXNIP (thioredoxin interacting protein) in their cells, can open for the development of new diabetes drugs.

12 Feb 2019

Bone marrow disease is stimulated by vitamin D and immune cells, reveals research

The bone marrow disease myelofibrosis is stimulated by excessive signaling from vitamin D and immune cells known as macrophages, reveals a Japanese research team. These findings could help to develop alternative treatments that do not target problem genes.

11 Feb 2019