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.

URMC researchers identify potential new means of treating severe genetic diseases in children

University of Rochester Medical Center researchers believe they have identified a potential new means of treating some of the most severe genetic diseases of childhood, according to a study in PLOS Biology.

16 Dec 2016

Scientists use unified analysis approach for diagnosing diseases with multiple genetic causes

Scientists at Baylor College of Medicine, Baylor Genetics, the University of Texas Health Science Center at Houston and Texas Children's Hospital are combining descriptions of patients' clinical features with their complex genetic information in a unified analysis to obtain more precise diagnoses of complex diseases, particularly those that involve more than one gene causing the condition.

8 Dec 2016

Hemophilia B patients produce near-normal levels of clotting factor IX after gene therapy, study shows

Researchers are reporting the highest and most sustained levels to date of the essential blood-clotting factor IX in patients with the inherited bleeding disorder hemophilia B.

4 Dec 2016

Scientists discover molecular link between rare childhood genetic disease and major cancer gene

A team of researchers led by a University of Rhode Island scientist has discovered an important molecular link between a rare childhood genetic disease, Fanconi anemia, and a major cancer gene called PTEN.

1 Dec 2016

TGen and City of Hope collaborate to accelerate precision medicine research

City of Hope, a world-renowned independent research and cancer and diabetes treatment center, and Translational Genomics Research Institute, a leading biomedical research institute, announced today that they have formed an alliance to make precision medicine a reality for patients.

30 Nov 2016

ASGCT seeks to educate public and policy-makers on fundamentals of gene editing

On Nov. 21, 2016, the American Society of Gene & Cell Therapy released Therapeutic Gene Editing: an ASGCT White Paper, intended to provide policy-makers, patient advocates, and the interested public with the necessary background information in anticipation of an upcoming consensus report on human gene editing from the National Academy of Sciences and National Academy of Medicine (NAS), expected to be released in early 2017.

24 Nov 2016

VIB researchers develop new tool to diagnose Familial Mediterranean Fever

Researchers at VIB and Ghent University have developed a tool to diagnose Familial Mediterranean Fever (FMF).

24 Nov 2016

WHF’s Cholesterol Roadmap previewed at 2016 AHA Scientific Sessions

The World Heart Federation's Cholesterol Roadmap is being previewed today at the American Heart Association Scientific Sessions 2016 in New Orleans, USA.

14 Nov 2016

Single gene therapy for lipoprotein lipase deficiency reduces severity and frequency of pancreatitis

Over a 6-year period, patients with the genetic disease lipoprotein lipase deficiency (LPLD) who received a single gene therapy treatment of alipogene tiparvovec had a marked reduction in the severity and frequency of pancreatitis.

8 Nov 2016

Researchers map two gene mutations that trigger retinal disease leading to macular degeneration

Two gene mutations that trigger a retinal disease that causes blindness in one in 5,000 males have been mapped, leading to the potential for new therapeutic treatments.

7 Nov 2016

WSU researcher finds a way to reduce development of cancer cells

A Washington State University researcher has developed a way to reduce the development of cancer cells that are an infrequent but dangerous byproduct of gene therapy.

5 Nov 2016

Researchers identify heart defects in progeria patients that may raise risk of arrhythmias, premature death

Researchers at the Centro Nacional de Investigaciones Cardiovasculares Carlos III, working in collaboration with colleagues at other centers in Spain and abroad, have identified defects in the hearts of progeria patients that appear to be related to an elevated risk of arrhythmias and premature death.

2 Nov 2016

Study shows promise for successful ovarian transplantation in future

Approximately 11% of women worldwide suffer from premature ovarian failure. This can have many different causes: chemotherapy administered for a malignant disease might irreversibly damage the ovaries and, because of the advances in modern cancer therapy, the number of young women surviving cancer is on the increase.

2 Nov 2016

Researchers identify potential new treatment for brain cancer by targeting genes linked to microcephaly

University of North Carolina Lineberger Comprehensive Cancer Center researchers have identified a potential new treatment for brain cancer by learning from a rare condition that can cause microcephaly.

1 Nov 2016

Gene therapy may be effective method for treating Niemann-Pick disease, type C1

For the first time, National Institutes of Health researchers have demonstrated in mice that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1 (NPC1).

26 Oct 2016

Researchers design small compounds with potential to correct mitochondrial dysfunction

Charcot-Marie-Tooth disease is an inherited disorder that leads to a gradual loss of motor neurons and, eventually, paralysis. The condition is caused by genetic mutations that disrupts cells' energy factories, called mitochondria.

25 Oct 2016

Novel ‘gene therapy in a box’ could effectively deliver modified blood stem cells

A table-top device that enables medical staff to genetically manipulate a patient's blood to deliver potential new therapies for cancer, HIV and other diseases would eliminate the need for multi-million-dollar "clean rooms," making gene therapy more possible for even the poorest of countries.

24 Oct 2016

Biomedical engineers harvest bacterial genes that can improve electrical signaling in human cells

Duke University biomedical engineers have harvested genes for ion channels from bacteria that, with a few tweaks, can create and enhance electrical signaling in human cells, making the cells more electrically excitable.

19 Oct 2016

Immune system plays important role in Duchenne muscular dystrophy, research reveals

A new paper, co-written by faculty at Binghamton University, State University of New York, increases the understanding of Duchenne muscular dystrophy (DMD)—one of the most common lethal genetic disorders—and points to potential therapeutic approaches.

14 Oct 2016

Genome engineering-based methods pave way for new treatment of patients with sickle cell disease

A team of physicians and laboratory scientists has taken a key step toward a cure for sickle cell disease, using CRISPR-Cas9 gene editing to fix the mutated gene responsible for the disease in stem cells from the blood of affected patients.

12 Oct 2016