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.

NUS scientists open possible new route for treatment of spinal muscular atrophy

A recent study led by scientists from the National University of Singapore (NUS) opens a possible new route for treatment of Spinal Muscular Atrophy (SMA), a devastating disease that is the most common genetic cause of infant death and also affects young adults.

18 Dec 2013

Standardized research approaches needed for developing new treatments for neurofibromatosis

As potentially effective new treatments for neurofibromatosis (NF) are developed, standardized research approaches—including outcome measures specific to NF—are needed. The first report from the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration has been published as a supplement to Neurology, the Official Journal of the American Academy of Neurology (AAN).

13 Dec 2013

State highlights: States scramble to change newborn screening programs; obesity rate flat; New York hospital charges vary considerably

States across the country are making significant changes to their newborn screening programs after a Milwaukee Journal Sentinel investigation found that thousands of hospitals were sending babies' blood samples late to state labs that test for rare yet deadly genetic disorders. From keeping labs open on weekends to identifying problem hospitals and providing them with regular performance reports, dozens of health officials are reviewing and retooling their state-run programs (Gabler, 12/11).

13 Dec 2013

Market research report on global and China insulin industry

As the third largest human health disease following neoplastic disease, cardiovascular and cerebrovascular diseases, the number of diabetic patients has continued growing from 246 million in 2007 to 382 million in 2013 at a compound annual growth rate of 7.6%.

12 Dec 2013

Mount Sinai cardiologists contribute to the creation of new cardiomyopathy classification system

Leading cardiologists at The Mount Sinai Hospital have contributed to the development of a new classification system called MOGE(S) for cardiomyopathies, the diseases of the heart muscle which can lead to heart enlargement and heart failure.

4 Dec 2013

Caregivers selected to receive the 2013 Shire BRAVE Awards

Selflessness, determination, courage and hope. These are among the qualities that describe the eighteen caregivers from around the world who have been selected as recipients of the 2013 Shire BRAVE Awards, an international program that honors the bravery and devotion of non-professional carers.

27 Nov 2013

Viewpoints: Local political fallout from Obama insurance pledge; 'debunking' sob story; is single payer still a possibility?

Democratic state leaders have been some of ObamaCare's strongest advocates. To show his gratitude, President Obama is sticking them with political responsibility for the millions of insurance policies that are being cancelled because they don't comply with the law's minimum-benefits mandates. ... Renewing lapsed policies could weaken the state exchanges as healthy young people will want to keep their discontinued, lower-cost plans ... there are other political considerations. Namely, the criticism they'll face from both the right and left if they don't back the president's directive to allow policy renewals (Allysia Finley, 11/25).

27 Nov 2013

Asparagine found in meat, eggs and dairy products is important for normal brain development

Asparagine, found in foods such as meat, eggs, and dairy products, was until now considered non-essential because it is produced naturally by the body. Researchers at the University of Montreal and its affiliated CHU Sainte-Justine Hospital found that the amino acid is essential for normal brain development.

26 Nov 2013

CRISPR-Cas-system: A promising tool for genetic engineering

Viruses cannot only cause illnesses in humans, they also infect bacteria. Those protect themselves with a kind of 'immune system' which - simply put - consists of specific sequences in the genetic material of the bacteria and a suitable enzyme. It detects foreign DNA, which may originate from a virus, cuts it up and thus makes the invaders harmless.

25 Nov 2013

Many primary care pediatricians feel uncomfortable in providing care to patients with genetic disorders

Many primary care pediatricians say they feel uncomfortable providing health care to patients with genetic disorders. Also, many do not consistently discuss all risks and benefits of genetic tests with patients, according to research published today in the American Journal of Medical Genetics.

20 Nov 2013

Scientists at Salk Institute develop novel platform to study kidney diseases

Diseases affecting the kidneys represent a major and unsolved health issue worldwide. The kidneys rarely recover function once they are damaged by disease, highlighting the urgent need for better knowledge of kidney development and physiology.

19 Nov 2013

Study: New device helps people who lost vision due to blinding genetic disease

Research presented today at the 117th Annual Meeting of the American Academy of Ophthalmology shows promising data about a device that helps people who have lost their vision due to a blinding genetic disease to recognize common objects.

18 Nov 2013

Researchers generate three-dimensional kidney structures from human stem cells

18 Nov 2013

E-Rare funding recommended for European young investigators network for Usher syndrome

Based on a ranking list that was established by the EU Scientific Evaluation Committee, the E-Rare funding bodies recommended the European young investigators network for Usher syndrome coordinated by Dr. Kerstin Nagel-Wolfrum from Johannes Gutenberg University Mainz for funding. Out of 82 submitted projects, EUR-USH was among the 11 excellent scientific projects that were chosen after a competitive two-step scientific evaluation by peers. In October 2013, researchers held their kick-off meeting in Nijmegen, the Netherlands.

16 Nov 2013

Human Treg responses allow sustained recombinant adeno-associated virus-mediated transgene expression

Successful gene therapy is based on the effective delivery and maintained expression of healthy copies of a gene into tissues of individuals with a disease-associated genetic mutation.

16 Nov 2013

Researchers identify gene responsible for Warburg Micro syndrome

A collaborative team of researchers led by researchers at the Medical College of Wisconsin and the University of Edinburgh has identified a gene responsible for Warburg Micro syndrome, a rare genetic disease characterized by eye, brain and endocrine abnormalities. Patients with Warburg Micro syndrome are severely physically and mentally challenged, unable to learn how to walk or speak and become blind and paralyzed from an early age.

15 Nov 2013

Medical researchers discover structure of potential drug target for rare genetic disease

Medical researchers at the University of Alberta have discovered the structure of a potential drug target for a rare genetic disease, paving the way for an alternative treatment for the condition.

15 Nov 2013

Stem cells from Wolfram syndrome patients used to elucidate beta-cell failure pathway in diabetes

Scientists from the New York Stem Cell Foundation Research Institute and Columbia University Medical Center have used stem cells created from the skin of patients with a rare form of diabetes—Wolfram syndrome—to elucidate an important biochemical pathway for beta-cell failure in diabetes. The findings by Linshan Shang and colleagues were published today in Diabetes.

13 Nov 2013

Researchers shed light on how and when immune system forms

Researchers at Lund University have shed light on how and when the immune system is formed, raising hope of better understanding various diseases in children, such as leukaemia.