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 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

Research shows enlarged genotype-phenotype correlation for three-base pair deletion in NF1

International collaborative research led by Ludwine Messiaen, Ph.D., shows that while a three-base pair, in-frame deletion called p.Met992del in the NF1 gene has a mild phenotype for people with the genetic disorder neurofibromatosis type 1, or NF1, the mutation does cause complications.

18 Sep 2018

KKH develops new test to enable faster diagnosis of critically ill children with rare diseases

A multi-disciplinary team at KK Women's and Children's Hospital has developed a test to enable faster diagnosis of rare diseases to help critically ill children.

17 Sep 2018

BeiGene collaborates with SpringWorks to evaluate new combinational therapy for solid tumors

BeiGene, Ltd., a commercial-stage biopharmaceutical company focused on developing and commercializing innovative molecularly-targeted and immuno-oncology drugs for the treatment of cancer, and SpringWorks Therapeutics, a clinical-stage rare disease and oncology company focused on sourcing and developing innovative treatments for underserved patient populations, announced today that the companies have entered into a global clinical collaboration agreement to evaluate the safety, tolerability and preliminary efficacy of combining BeiGene's investigational RAF dimer inhibitor, lifirafenib and SpringWorks Therapeutics' investigational MEK inhibitor, PD-0325901, in patients with advanced solid tumors.

6 Sep 2018

Breakthrough study sheds light on mechanism underlying Warsaw Breakage Syndrome

Researchers from Tokyo Metropolitan University and the FIRC Institute of Molecular Oncology in Italy have uncovered a previously unknown function of the DDX11 helicase enzyme.

3 Sep 2018

Researchers find how NF2 gene mutations lead to out-of-control cellular proliferation

A team of Massachusetts General Hospital Cancer Center researchers has determined one way that mutations in a gene involved in a rare, hereditary cancer syndrome lead to out-of-control cellular proliferation.

29 Aug 2018