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.

TAU researchers identify novel genetic mutation as source of specific rare disease

Rare diseases -- those that affect fewer than one in 200,000 people -- are often identified early in life. Some 30 percent of children afflicted by these "orphan diseases" do not live to see their fifth birthday. While the U.S. Orphan Drug Act of 1983 was written into law to promote research on the topic, the cost of identifying the source and progression of these diseases remains prohibitive for many families.

10 Feb 2015

Leading medical societies jointly release new statement on using carrier screening in reproductive medicine

Carrier screening for inherited genetic disorders is an important part of preconception and prenatal care for the nearly 4 million women who give birth in the US annually. Carrier screening is meant to identify couples at risk for passing on such genetic conditions to their children.

9 Feb 2015

Two researchers receive Pioneer Award from Human Gene Therapy

Recognized for their pioneering work in the development of gene transfer technology using retroviral vectors to deliver therapeutic genes into cells, Richard C. Mulligan, PhD, Director of the Harvard Gene Therapy Initiative, Harvard Institutes of Medicine, Boston, MA, and A. Dusty Miller, PhD, Fred Hutchinson Cancer Research Center, Seattle, WA, received the Pioneer Award from Human Gene Therapy, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers.

9 Feb 2015

UI Children's Hospital named Certified Duchenne Care Center by PPMD

The University of Iowa Children's Hospital was named a Certified Duchenne Care Center by Parent Project Muscular Dystrophy, a nonprofit organization leading the fight to end Duchenne muscular dystrophy (Duchenne) and demanding optimal care for all people with Duchenne.

7 Feb 2015

Vanderbilt researchers find link between the biological clock and Angelman syndrome

Monitoring participants' biological clocks may be the quickest way to determine the effectiveness of experimental drugs currently under development to treat Angelman syndrome: a debilitating genetic disorder that occurs in more than one in every 15,000 live births.

6 Feb 2015

Parents can pass silenced genes to offspring through a specific mechanism

For more than a century, scientists have understood the basics of inheritance: if good genes help parents survive and reproduce, the parents pass those genes along to their offspring. And yet, recent research has shown that reality is much more complex: genes can be switched off, or silenced, in response to the environment or other factors, and sometimes these changes can be passed from one generation to the next.

4 Feb 2015

TMM journal reviews latest advances in reproductive medicine

The journal Trends in Molecular Medicine reviews the latest advances in reproductive medicine--from mitochondrial replacement therapy to the infant microbiome--with a special issue on "Nurturing the Next Generation," published February 3, 2015.

4 Feb 2015

Study demonstrates therapeutic potential of new class of synthetic oligonucleotides for DMD treatment

Research efforts associating scientists from the CNRS, UVSQ and INSERM within the Laboratoire END-ICAP, working in collaboration with a team from the University of Bern, has demonstrated the therapeutic potential of a new class of synthetic oligonucleotides in the treatment of Duchenne muscular dystrophy (DMD) using RNA "surgery".

4 Feb 2015

New insight on how naturally occurring mutations can be introduced into DNA

Scientists have shed light on how naturally occurring mutations can be introduced into our DNA.

31 Jan 2015

UCSD professor wins 2015 Japan Prize

Theodore Friedmann, MD, professor in the Department of Pediatrics at University of California, San Diego School of Medicine was named today one of three recipients of the 2015 Japan Prize, a prestigious international award honoring laureates whose "original and outstanding achievements in science and technology have advanced the frontiers of knowledge and served the cause of peace and prosperity for mankind.

29 Jan 2015

BRCA1/2 analysis: an interview with Jurgi Camblong, CEO of Sophia Genetics

BRCA1 and BRCA2 genes are two of the most well studied genes in the cancer field. They are tumor suppressors - mutations in these genes can lead to breast and/or ovarian cancer. Predispositions can be detected in women before they develop cancer.

26 Jan 2015

Researchers develop new treatment that extends telomeres

Will extending telomeres lead to longer, healthier lives? Researchers have taken an important step toward answering this question by developing a new treatment used in the laboratory that extends telomeres.

24 Jan 2015

UAB Research Probes Molecular Basis Of Rare Genetic Disorder

An international group co-led by University of Alabama at Birmingham researcher Mary MacDougall, Ph.D., has unraveled the molecular basis for the rare, inherited genetic disorder, Singleton-Merten Syndrome (SMS). Individuals with SMS develop extreme, life-threatening calcification of the aorta and heart valves, early-onset periodontitis and root resorption of the teeth, decreases in bone density, and loss of bone tissue at the tips of fingers and toes.

23 Jan 2015

Personalized approaches to treating intellectual disability

Scientists from the Florida campus of The Scripps Research Institute have produced an approach that protects animal models against a type of genetic disruption that causes intellectual disability, including serious memory impairments and altered anxiety levels.

22 Jan 2015

Penn, Spark Therapeutics expand strategic relationship to develop treatment for progressive blindness

The University of Pennsylvania has announced an expanded relationship with Spark Therapeutics, a late-stage gene therapy company developing treatments for debilitating, genetic diseases.

21 Jan 2015

HZI professor selected as recipient of 2015 Louis-Jeantet-Prize for Medicine

Prof Emmanuelle Charpentier from the Helmholtz Centre for Infection Research in Braunschweig is one of the two recipients of the 2015 Louis-Jeantet-Prize for Medicine. The prize money of 700,000 Swiss francs is mostly attributed for the continuation of the awardees work.

21 Jan 2015

Study leads to discovery of rare genetic disorder

Recently, a grassroots effort initiated by families and clinicians led to the discovery of a human genetic disorder with severe consequences that is linked to a mutation in the human NGLY1 gene. In a big step towards understanding the effects of this mutation, research by scientists at the RIKEN-Max Planck Joint Research Center in Japan implicates the enzyme ENGase as the factor responsible for deficient protein degradation that occurs in the absence of mouse Ngly1 gene expression.

19 Jan 2015

FDA grants orphan drug status to NBI-77860 for treatment of congenital adrenal hyperplasia

Neurocrine Biosciences, Inc. announced today that NBI-77860, a proprietary corticotropin releasing factor 1 (CRF) receptor antagonist, has been granted orphan drug status by the United States Food and Drug Administration (FDA) for the treatment of congenital adrenal hyperplasia (CAH) a disease that affects approximately 20,000-30,000 people in the United States.

16 Jan 2015

People with iron overload disease are more vulnerable to Vibrio vulnificus infections

Every summer, the news reports on a bacterium called Vibrio vulnificus found in warm saltwater that causes people to get sick, or die, after they eat raw tainted shellfish or when an open wound comes in contact with seawater.

15 Jan 2015

TSRI researchers identify enzyme that produces inflammatory lipid molecules in the brain

A team led by scientists at The Scripps Research Institute has identified an enzyme that produces a class of inflammatory lipid molecules in the brain. Abnormally high levels of these molecules appear to cause a rare inherited neurodegenerative disorder, and that disorder now may be treatable if researchers can develop suitable drug candidates that inhibit this enzyme.

13 Jan 2015

Genetic Disorder News and Research

Further Reading

TAU researchers identify novel genetic mutation as source of specific rare disease

Leading medical societies jointly release new statement on using carrier screening in reproductive medicine

Two researchers receive Pioneer Award from Human Gene Therapy

UI Children's Hospital named Certified Duchenne Care Center by PPMD

Vanderbilt researchers find link between the biological clock and Angelman syndrome

Parents can pass silenced genes to offspring through a specific mechanism

TMM journal reviews latest advances in reproductive medicine

Study demonstrates therapeutic potential of new class of synthetic oligonucleotides for DMD treatment

New insight on how naturally occurring mutations can be introduced into DNA

UCSD professor wins 2015 Japan Prize

BRCA1/2 analysis: an interview with Jurgi Camblong, CEO of Sophia Genetics

Researchers develop new treatment that extends telomeres

UAB Research Probes Molecular Basis Of Rare Genetic Disorder

Personalized approaches to treating intellectual disability

Penn, Spark Therapeutics expand strategic relationship to develop treatment for progressive blindness

HZI professor selected as recipient of 2015 Louis-Jeantet-Prize for Medicine

Study leads to discovery of rare genetic disorder

FDA grants orphan drug status to NBI-77860 for treatment of congenital adrenal hyperplasia

People with iron overload disease are more vulnerable to Vibrio vulnificus infections

TSRI researchers identify enzyme that produces inflammatory lipid molecules in the brain

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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