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 find that mitochondrial disease more prevalent in older moms

The discovery of a "maternal age effect" by a team of Penn State scientists that could be used to predict the accumulation of mitochondrial DNA mutations in maternal egg cells -- and the transmission of these mutations to children -- could provide valuable insights for genetic counseling.

14 Oct 2014

Medical geneticists diagnose genetic syndromes, improve children’s quality of life

The genes children inherit determine everything from their height to their hair color. But sometimes, a child's genetic code also contains hidden abnormalities that can cause an array of health issues, such as developmental delays or physical or mental illness.

13 Oct 2014

Rockefeller University researchers gain new insight into how cholesterol processes in our body

In spite of its dangerous reputation, cholesterol is in fact an essential component of human cells. Manufactured by the cells themselves, it serves to stiffen the cell's membrane, helping to shape the cell and protect it. By mapping the structure of a key enzyme involved in cholesterol production, Rockefeller University researchers and a colleague in Italy have gained new insight into this complex molecular process.

12 Oct 2014

Isis Pharmaceuticals secures $18 million from GSK to advance ISIS-TTR Rx Phase 2/3 study

Isis Pharmaceuticals, Inc. announced today that it has earned an $18 million milestone payment from GlaxoSmithKline related to the advancement of the Phase 2/3 study of ISIS-TTRRx in patients with familial amyloid polyneuropathy (FAP).

9 Oct 2014

AT2101 drug, evaluated for Gaucher disease, slows progression of Parkinson's disease in mice

A new study from UCLA found that a drug being evaluated to treat an entirely different disorder helped slow the progression of Parkinson's disease in mice.

9 Oct 2014

Gaucher disease: an interview with Dr Clement Olivier, Shire

Gaucher disease is the most common condition within a family of rare diseases known as the lysosomal storage diseases. The disease causes lipids to accumulate in cells, which is why it is referred to as a storage disorder. The accumulation occurs mainly in the spleen, liver, and bones, but may also occur in the lungs, heart, and central nervous system.

30 Sep 2014

Gut microbe in patients may tip doctors about SCID

Many people recognize "the bubble boy" as an unusual character from a "Seinfeld" episode or a John Travolta movie.

30 Sep 2014

MD-CARE Act Amendments become law

Capping a two-year advocacy campaign led by Parent Project Muscular Dystrophy, today President Barack Obama signed the MD-CARE Act Amendments of 2014 into law, providing a significant victory to the Duchenne and broader muscular dystrophy communities.

27 Sep 2014

Researchers explore gene expression in normal vestibular nerves, vestibular schwannomas

Researchers from the University of Toronto, directed by Drs. Gelareh Zadeh and Boris Krischek, investigated gene expression in normal vestibular nerves and vestibular schwannomas (VSs).

24 Sep 2014

Many fear lack of confidentiality and disclosure regarding genetic test's purpose

Genomic medicine is rapidly developing, bringing with its advances promises of individualized genetic information to tailor and optimize prevention and treatment interventions. Genetic tests are already guiding treatments of the human immunodeficiency virus (HIV) and hepatitis c virus (HPC), and emerging research is showing genetic variants may be used to screen for an individual's susceptibility to addiction to a substance, and even inform treatments for addiction.

24 Sep 2014

Newborn screening can prevent lifelong disability

When your baby was born you likely heard a loud cry and examined your baby to make sure he/she had a full set of adorable fingers and toes. But just imagine a few days after you arrive home, your phone rings: your baby has screened positive for a genetic disorder.

24 Sep 2014

Oxabact now recognized as potential treatment for Short Bowel Syndrome

SBS is a highly disabling malabsorptive condition. SBS is associated with significant morbidity and mortality, reduced quality of life and high healthcare costs.

23 Sep 2014

Sanofi, MyoKardia partner to develop targeted therapeutics for cardiomyopathies

Sanofi and MyoKardia, Inc., a privately-held company leading the development of precision therapies for genetic heart disease, announced today a worldwide collaboration to discover and develop first-of-its-kind targeted therapeutics for heritable heart diseases known as cardiomyopathies, the most common forms of heart muscle disease.

18 Sep 2014

Jacobsen syndrome linked to autism, find UCSD and SDSU researchers

A rare genetic disorder known as Jacobsen syndrome has been linked with autism, according to a recent joint investigation by researchers at San Diego State University and the University of California, San Diego. In addition to suggesting better treatment options for people with Jacobsen syndrome, the finding also offers more clues into the genetic underpinnings of autism.

18 Sep 2014

Zebrafish may hold key to unlocking a leading cause of respiratory diseases

A small freshwater fish found in many tropical aquariums may hold the key to unlocking one of the leading causes of respiratory diseases in humans.

17 Sep 2014

MSU researchers show how bacterial immune systems fight off viruses

When this week's print issue of the journal Science comes out, a collective cheer will go up from New Mexico, Montana and even the Netherlands, thanks to the type of collaborative effort that is more and more the norm in these connected times. Yes, the research was brilliant, and if we're lucky, it will produce innovations in biology, medicine, biotechnology and agriculture. It could save lives, and it happened because this scientist talked with that one, that one knew another one, and brilliant minds overcame geographic distance to advance human understanding.

16 Sep 2014

Researchers find learning and memory components of neurofibromatosis using zebrafish model

Using a zebrafish model of a human genetic disease called neurofibromatosis (NF1), a team from the Perelman School of Medicine at the University of Pennsylvania has found that the learning and memory components of the disorder are distinct features that will likely need different treatment approaches.

15 Sep 2014

NSF, NIH, USDA receive more than $12 million in new EEID grants

Ebola, MERS (Middle East Respiratory Syndrome), malaria, antibiotic-resistant infections: Is our interaction with the environment somehow responsible for their increased incidence?

11 Sep 2014

Expert creates new evidence-based guideline for managing sickle cell disease

An expert panel has created a new evidence-based guideline for managing sickle cell disease (SCD), with a strong recommendation for the use of the drug hydroxyurea and transfusion therapy for many individuals with SCD, although high-quality evidence is limited, with few randomized clinical trials conducted for this disease, according to an article in the September 10 issue of JAMA.

10 Sep 2014

Scientists identify how molecular motor essential for human development works

Another mystery of the human body has been solved by scientists who have identified how a molecular motor essential for human development works.

10 Sep 2014

Genetic Disorder News and Research

Further Reading

Penn State scientists find that mitochondrial disease more prevalent in older moms

Medical geneticists diagnose genetic syndromes, improve children’s quality of life

Rockefeller University researchers gain new insight into how cholesterol processes in our body

Isis Pharmaceuticals secures $18 million from GSK to advance ISIS-TTR Rx Phase 2/3 study

AT2101 drug, evaluated for Gaucher disease, slows progression of Parkinson's disease in mice

Gaucher disease: an interview with Dr Clement Olivier, Shire

Gut microbe in patients may tip doctors about SCID

MD-CARE Act Amendments become law

Researchers explore gene expression in normal vestibular nerves, vestibular schwannomas

Many fear lack of confidentiality and disclosure regarding genetic test's purpose

Newborn screening can prevent lifelong disability

Oxabact now recognized as potential treatment for Short Bowel Syndrome

Sanofi, MyoKardia partner to develop targeted therapeutics for cardiomyopathies

Jacobsen syndrome linked to autism, find UCSD and SDSU researchers

Zebrafish may hold key to unlocking a leading cause of respiratory diseases

MSU researchers show how bacterial immune systems fight off viruses

Researchers find learning and memory components of neurofibromatosis using zebrafish model

NSF, NIH, USDA receive more than $12 million in new EEID grants

Expert creates new evidence-based guideline for managing sickle cell disease

Scientists identify how molecular motor essential for human development works

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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