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.

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

Researchers identify regulatory mechanism underlying obesity

Obesity − as research in the past decade has shown − is first and foremost a brain disease. Researchers at Helmholtz Zentrum München, partners in the German Center for Diabetes Research, have now discovered a molecular switch that controls the function of satiety neurons and therefore body weight. The findings were published in the journal 'Nature Metabolism'.

31 Jan 2019

Scientists aim to find genetic causes of developmental abnormalities in the vagina and uterus

A percentage of females are born with a missing or underdeveloped vagina and uterus, and scientists are working to analyze the genes of hundreds of them to get a better idea about causes, improve genetic counseling and ideally treatment.

22 Jan 2019

Scientists develop new gene therapy that prevents axon destruction in mice

Nerve axons serve as the wiring of the nervous system, sending electrical signals that control movement and sense of touch.

18 Jan 2019

Genetic testing can help personalize diagnosis and treatment of kidney disease, study shows

A new study has found that genes cause about 1 in 10 cases of chronic kidney disease in adults, and identifying the responsible gene has a direct impact on treatment for most of these patients.

26 Dec 2018

CTF along with NTAP and Sage announce first-ever open data portal for neurofibromatosis

The Children's Tumor Foundation, together with the Neurofibromatosis Therapeutic Acceleration Program and Sage Bionetworks, has announced the first-ever open data portal for scientific research results in the field of neurofibromatosis.

17 Dec 2018

Recent findings on rare genetic disorder may help develop new treatment options

Fresh discoveries about a rare genetic disorder that affects mainly boys may inform the development of therapies to treat the condition.

13 Dec 2018

Researchers successfully restore sense of vision in blind people using BVT's bionic eye

Bionic Vision Technologies Pty Ltd today announced medical researchers had successfully restored a sense of vision in four blind people with its bionic eye as part of a clinical trial in Melbourne.

22 Nov 2018

UH pharmaceutical scientist developing new drug to treat children with rare genetic disorder

A University of Houston pharmaceutical scientist is developing a new drug which could bring relief to children suffering with Familial Adenomatous Polyposis, a rare genetic disorder characterized by hundreds - if not thousands - of colorectal polyps.

21 Nov 2018

Leadiant Biosciences announces FDA approval of Revcovi for treating pediatric, adult ADA-SCID patients

Leadiant Biosciences, Inc. today announced that the Food and Drug Administration has granted approval to Revcovi (elapegademase-lvlr) injection in the U.S. Revcovi is a new enzyme replacement therapy for the treatment of adenosine deaminase severe combined immune deficiency in pediatric and adult patients.

7 Oct 2018

New, more efficient method for generating brain stem cells in the lab

In two newly published papers, a scientific team at Case Western Reserve University School of Medicine reports on the discovery and implementation of a new, more efficient method for generating an important brain stem cell in the laboratory.

1 Oct 2018

Shared decision making needed to diagnose, treat, and manage patients with CAH

The Endocrine Society today issued a Clinical Practice Guideline that offers best practices for healthcare providers on how to promptly diagnose, treat, and manage patients with congenital adrenal hyperplasia, an inherited endocrine disorder, throughout their entire lives.

28 Sep 2018

Exploring factors that need considered before offering genetic risk information to individuals

Should researchers inform research participants, if they discover genetic disease risks in the participants? Yes, many would say, if the information is helpful to the participants.

28 Sep 2018

Antibiotic resistance in cystic fibrosis linked to decreased microbial diversity and pulmonary function

A defective gene causes thick, sticky mucus to build up in the lungs of patients with cystic fibrosis. There, it traps bacteria, causing patients to develop frequent lung infections that progressively damage these vital organs and impair patients' ability to breathe.

27 Sep 2018

Researchers identify new genetic disorder in a human patient

Researchers from Michigan State University College of Human Medicine and physicians from Spectrum Health have identified for the first time in a human patient a genetic disorder only previously described in animal models.

21 Sep 2018

First U.S. patient treated with innovative gene therapy at Bascom Palmer Eye Institute

A Puerto Rican patient with X-linked retinitis pigmentosa (XLRP) is hoping to save his vision after an innovative gene therapy procedure at Bascom Palmer Eye Institute at the University of Miami Miller School of Medicine.

19 Sep 2018