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.

Penn State scientists develop citrate-based fluorescent sensor for diagnosis of cystic fibrosis

Penn State biomaterials scientists have developed a new, inexpensive method for detecting salt concentrations in sweat or other bodily fluids.

7 Oct 2016

First comprehensive center opened in Tri-State area to mark new era in care of DMD patients

Nearly 1,000 boys in the New York Tri-State area have been diagnosed with Duchenne Muscular Dystrophy (DMD) and, until now, had to travel out of the state for comprehensive care.

7 Oct 2016

Johns Hopkins researchers identify protein that triggers brain cell death from strokes and injuries

Despite their different triggers, the same molecular chain of events appears to be responsible for brain cell death from strokes, injuries and even such neurodegenerative diseases as Alzheimer's.

7 Oct 2016

Researchers to explore potential roles of tumor-suppressor gene in kidney cancer

Renal cell carcinoma is the most common type of kidney cancer, and African-Americans and males appear most at risk for this disease that can be asymptomatic until it has spread and become highly lethal, said Dr. Vinata B. Lokeshwar, cancer researcher and chair of the Department of Biochemistry and Molecular Biology at the Medical College of Georgia at Augusta University.

7 Oct 2016

Study offers promise for therapeutic management of fetal and congenital genetic diseases in utero

A breakthrough study by research teams at Rosalind Franklin University of Medicine and Science and Oregon Health & Science University offers promise for therapeutic management of congenital diseases in utero using designer nucleotide sequences that can simply be injected into the fluid surrounding the developing fetus to potentially treat disabling-to-lethal genetic defects.

7 Oct 2016

New study finds no evidence of benefit from genetic disposition of eczema

Some genetic diseases persist for generation after generation because the genes that cause them can benefit human health.

6 Oct 2016

UAB researchers launch first drug study to prevent onset of epilepsy in children with TSC

Researchers at the University of Alabama at Birmingham have launched the first drug study aimed at preventing or delaying the onset of epilepsy in children with a genetic condition known as tuberous sclerosis complex.

6 Oct 2016

Professor Illana Gozes from Tel Aviv University receives 2016 RARE Champion of Hope award

Tel Aviv University's Prof. Illana Gozes was awarded the 2016 RARE Champion of Hope -- Science International Prize by Global Genes, a leading global advocacy non-profit organization for patients and families fighting rare and genetic diseases.

5 Oct 2016

DHA intake can prevent known trigger of lupus, study finds

A team of Michigan State University researchers has found that consuming an omega-3 fatty acid called DHA, or docosahexaenoic acid, can stop a known trigger of lupus and potentially other autoimmune disorders.

30 Sep 2016

Researchers discover how cells know when to stop producing mRNA

A new scientific study conducted by a team of leading geneticists has characterized how cells know when to stop translating DNA into proteins, a critical step in maintaining healthy protein levels and cell function.

30 Sep 2016

Tools of Undiagnosed Diseases Network help unravel mystery of rare genetic disease

The first patient was a mystery. Arriving at Duke six years ago at the age of three, the youngster had mild developmental delays and physical characteristics that included a large body and large head circumference.

29 Sep 2016

Imran Noorani receives Brainlab Community Neurosurgery Abstract Award at 2016 CNS annual meeting

Imran Noorani MD, MRCS, of Cambridge, England, received the Brainlab Community Neurosurgery Abstract Award at the Congress of Neurological Surgeons Annual Meeting in San Diego.

28 Sep 2016

Gene therapy for LPLD patients linked to lower frequency and severity of pancreatitis

Up to 6 years after receiving a single treatment with the gene therapy product lipoprotein lipase (LPL), patients with the debilitating genetic disease LPL deficiency (LPLD) had about 50% fewer episodes of pancreatitis than before receiving the treatment.

28 Sep 2016

Researchers now developing digital support device to help CF sufferers monitor treatment

People with cystic fibrosis (CF) need help to ensure they are getting correct nutrition and the right amount of enzymes. They also need constant reminders. Researchers are now developing a digital support device to promote autonomy, but are finding that this is no easy task.

28 Sep 2016

Association for Molecular Pathology announces winners of 2016 awards

The Association for Molecular Pathology, the premier global, non-profit organization serving molecular diagnostics professionals, today announced the recipients of the Jeffrey A. Kant Leadership Award and the AMP Meritorious Service Award. Together with the AMP Award for Excellence in Molecular Diagnostics, these awards will be presented at the AMP 2016 Annual Meeting.

27 Sep 2016

Increasing specific brain fats could be potential strategy for preventing epileptic seizures

Increasing the concentration of specific fats in the brain could suppress epileptic seizures. This is evident from ground-breaking research carried out by the research groups of Professor Patrik Verstreken and Professor Wim Versées.

26 Sep 2016

Research shows degenerative diseases affecting the retina may be treatable with gene therapy

Researchers have demonstrated the ability to deliver a fully functional copy of the CLN3 gene to stem cells of patients with juvenile NCL, an inherited neurodegenerative disease in which a mutation in the CLN3 gene causes early-onset severe central vision loss.

26 Sep 2016

Scientists engineer smallest-reported synthetic virus that may help advance gene therapy

Gene therapy is a kind of experimental treatment that is designed to fix faulty genetic material and help a patient fight off or recover from a disease.

21 Sep 2016

Lund University stem cell researcher awarded Fernström prize for study on repairing damaged brain

Is it possible to convert a patient’s own skin cells into functioning nerve cells? Or insert healthy genes to reprogram the cells of a damaged brain? Stem cell researcher Malin Parmar at Lund University in Sweden is studying these types of issues, in close collaboration with clinical researchers.

21 Sep 2016

IU receives $1.9 million grant to investigate effects of congenital birth defects and age on the eye

A $1.9 million grant to Indiana University from the National Institutes of Health's National Eye Institute will advance basic research on the eye with applications to blindness caused by genetic disorders and aging.

20 Sep 2016

Genetic Disorder News and Research

Further Reading

Penn State scientists develop citrate-based fluorescent sensor for diagnosis of cystic fibrosis

First comprehensive center opened in Tri-State area to mark new era in care of DMD patients

Johns Hopkins researchers identify protein that triggers brain cell death from strokes and injuries

Researchers to explore potential roles of tumor-suppressor gene in kidney cancer

Study offers promise for therapeutic management of fetal and congenital genetic diseases in utero

New study finds no evidence of benefit from genetic disposition of eczema

UAB researchers launch first drug study to prevent onset of epilepsy in children with TSC

Professor Illana Gozes from Tel Aviv University receives 2016 RARE Champion of Hope award

DHA intake can prevent known trigger of lupus, study finds

Researchers discover how cells know when to stop producing mRNA

Tools of Undiagnosed Diseases Network help unravel mystery of rare genetic disease

Imran Noorani receives Brainlab Community Neurosurgery Abstract Award at 2016 CNS annual meeting

Gene therapy for LPLD patients linked to lower frequency and severity of pancreatitis

Researchers now developing digital support device to help CF sufferers monitor treatment

Association for Molecular Pathology announces winners of 2016 awards

Increasing specific brain fats could be potential strategy for preventing epileptic seizures

Research shows degenerative diseases affecting the retina may be treatable with gene therapy

Scientists engineer smallest-reported synthetic virus that may help advance gene therapy

Lund University stem cell researcher awarded Fernström prize for study on repairing damaged brain

IU receives $1.9 million grant to investigate effects of congenital birth defects and age on the eye

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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