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.

Preclinical study shows clear path toward effective treatment for rare bone disease

Researchers at Sanford Burnham Prebys Medical Discovery Institute have led a preclinical study demonstrating that the drug palovarotene suppresses the formation of bony tumors (osteochondromas) in models of multiple hereditary exostoses (MHE).

20 Nov 2017

Tulane professor wins Department of Defense grant for research into arteriovenous malformations

Tulane University's Stryder Meadows, a cell and molecular biology professor, received a $1.7 million grant from the Department of Defense to study how arteriovenous malformations (AVM), which are defects in arteries, veins and capillaries, form Hereditary Hemorrhagic Telangiectasia (HHT), a genetic disorder that affects about 1 in 5,000 people.

14 Nov 2017

Advances in genetic and stem cell techniques help identify therapeutic targets for neurological disorders

Research released today highlights advances in the use of CRISPR-Cas9 and human induced pluripotent stem cell technologies to identify novel therapeutic targets for neurological disorders such as schizophrenia and addiction.

13 Nov 2017

New category of immunotherapy appears safe to use in patients with both cancer and HIV

A new category of immunotherapies called checkpoint inhibitors that has been highly effective against many different cancers appears safe to use in patients with both advanced malignancies and HIV, a population excluded from earlier trials of such therapies, according to an early-phase trial.

7 Nov 2017

Texas Biomedical Research Institute tests promising new treatment for HBV infection

Research at the Southwest National Primate Research Center on the campus of Texas Biomedical Research Institute helped advance a new treatment now in human trials for chronic hepatitis B virus (HBV) infection.

7 Nov 2017

Drug can safely and effectively help infants with SMA gain muscle function, study shows

More than half of the babies with infantile-onset spinal muscular atrophy (SMA) who were treated with nusinersen (Spinraza) gained motor milestones, compared to none of the babies in the control group. Infants treated with the drug also had 63 percent lower risk of death.

6 Nov 2017

Single infusion of wildtype HSPCs halts cellular damage caused by neuromuscular disorder in mice

Researchers at University of California San Diego School of Medicine report that a single infusion of wildtype hematopoietic stem and progenitor cells (HSPCs) into a mouse model of Friedreich's ataxia (FA) measurably halted cellular damage caused by the degenerative disease.

25 Oct 2017

Myelin sheaths restore impaired nervous system over the long haul

In the central nervous system of humans and all other mammals, a vital insulating sheath composed of lipids and proteins around nerve fibers helps speed the electrical signals or nerve impulses that direct our bodies to walk, talk, breathe, swallow or perform any routine physical act.

24 Oct 2017

Research aims to raise awareness of higher rate of testicular cancer in patients with DS

Research by Jue Wang, MD, at the University of Arizona Cancer Center at Dignity Health St. Joseph's Hospital and Medical Center on "Delay in Diagnosis of Testicular Cancer in a Patient with Down Syndrome" was published in the October issue of Journal of Cancer and Therapeutic Science.

13 Oct 2017

Study to determine lowest dose of chemotherapy needed for babies with SCID

Michael Pulsipher, MD, of the Children's Center for Cancer and Blood Diseases at Children's Hospital Los Angeles, along with co-principal investigator, Sung-Yun Pai, MD, of Boston Children's Hospital, has been awarded nearly $9 million from the National Institute of Allergy and Infectious Diseases of the NIH to study a new treatment approach for babies born with severe combined immunodeficiency (SCID) which prevents the immune system from functioning normally.

6 Oct 2017

Legalizing mitochondrial donation can prevent children from inheriting life-threatening genetic disease

Australian laws need to change to allow women carrying mitochondrial disease to access a ground-breaking IVF procedure so they can have healthy, biologically-related children free from this incurable and life-threatening genetic disease, according to the Australian Mitochondrial Disease Foundation.

25 Sep 2017

A rare dementia gene runs in the family, but he’s fine — so far

John Janda knows he takes after his mother. At 68, the graying building contractor is sentimental, just as she was. He smiles indulgently as he shows off photos of his 9-month-old grandson; he tears up at the memory of losing his dad in a construction accident more than 40 years ago.

11 Sep 2017

Penn researchers find abnormally shortened telomeres in young DMD patients’ muscle stem cells

Researchers from the Perelman School of Medicine at the University of Pennsylvania have made a discovery about muscular dystrophy disorders that suggest new possibilities for treatment.

7 Sep 2017

Scientists directly convert skin cells from healthy adults into motor neurons

Scientists working to develop new treatments for neurodegenerative diseases have been stymied by the inability to grow human motor neurons in the lab. Motor neurons drive muscle contractions, and their damage underlies devastating diseases such as amyotrophic lateral sclerosis and spinal muscular atrophy, both of which ultimately lead to paralysis and early death.

7 Sep 2017

Controlling zinc transporter levels could be effective plan to combat pancreatic cancer, other diseases

When trace elements rise to toxic levels, bad things happen. Patients suffering from Alzheimer's and Parkinson's disease harbor significantly higher levels of zinc and iron in their brains than healthy patients.

6 Sep 2017

Study explores periodontal status of patients with Chédiak-Higashi syndrome

The International and American Associations for Dental Research have published an article titled "Periodontitis in Chédiak-Higashi Syndrome: An Altered Immunoinflammatory Response" in the JDR Clinical & Translational Research.

31 Aug 2017

Scientists identify basic biological mechanism that kills neurons in ALS

A team led by scientists at St. Jude Children's Research Hospital and Mayo Clinic has identified a basic biological mechanism that kills neurons in amyotrophic lateral sclerosis (ALS) and in a related genetic disorder, frontotemporal dementia (FTD), found in some ALS patients.

16 Aug 2017

Genetic Disorder News and Research

Further Reading

Preclinical study shows clear path toward effective treatment for rare bone disease

Tulane professor wins Department of Defense grant for research into arteriovenous malformations

Advances in genetic and stem cell techniques help identify therapeutic targets for neurological disorders

New category of immunotherapy appears safe to use in patients with both cancer and HIV

Texas Biomedical Research Institute tests promising new treatment for HBV infection

Drug can safely and effectively help infants with SMA gain muscle function, study shows

Single infusion of wildtype HSPCs halts cellular damage caused by neuromuscular disorder in mice

Myelin sheaths restore impaired nervous system over the long haul

Research aims to raise awareness of higher rate of testicular cancer in patients with DS

Study to determine lowest dose of chemotherapy needed for babies with SCID

Legalizing mitochondrial donation can prevent children from inheriting life-threatening genetic disease

A rare dementia gene runs in the family, but he’s fine — so far

Penn researchers find abnormally shortened telomeres in young DMD patients’ muscle stem cells

Scientists directly convert skin cells from healthy adults into motor neurons

Controlling zinc transporter levels could be effective plan to combat pancreatic cancer, other diseases

Study explores periodontal status of patients with Chédiak-Higashi syndrome

Scientists identify basic biological mechanism that kills neurons in ALS

Researcher receives NIH grant to study genetic mutation that prevents tooth formation

Scientists propose therapeutic strategy to suppress formation of hereditary bony tumors

'Residual echo' of Neanderthal genes may hold clues to deficits in mental disorders

Genetics & Genomics - Second Edition eBook

Bringing real-time analytics to downstream bioprocess monitoring

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

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