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.

CVD risk assessment still important in severely obese adolescents

Researchers report a dose–response relationship between body mass index and cardiovascular risk even in severely obese adolescents, making its assessment important to limit further disease progression.

1 Apr 2015

New osteoporosis drug may also be useful for treating brittle bone disease

New research at the University of Michigan offers evidence that a drug being developed to treat osteoporosis may also be useful for treating osteogenesis imperfecta or brittle bone disease, a rare but potentially debilitating bone disorder that that is present from birth.

31 Mar 2015

Synageva announces submission of Kanuma application to Cofepris for treatment of LAL Deficiency

Synageva BioPharma Corp., a biopharmaceutical company developing therapeutic products for rare disorders, announced today the submission to the Comisión Federal para la Protección contra Riesgos Sanitarios in Mexico for Kanuma as a treatment for patients with lysosomal acid lipase deficiency (LAL Deficiency), a rare genetic disease with significant morbidity and early mortality.

30 Mar 2015

Rare genetic mutation explains why flu can kill in rare cases

Nobody likes getting the flu, but for some people, fluids and rest aren't enough. A small number of children who catch the influenza virus fall so ill they end up in the hospital — perhaps needing ventilators to breathe — even while their family and friends recover easily. New research by Rockefeller University scientists, published March 26 in Science, helps explain why: a rare genetic mutation.

30 Mar 2015

Public volunteers to highlight their role in improving care for patients at Sheffield Consumers in Research event

RESEARCH-active members of the public are to showcase how their vital work helps shape clinical research projects and improves care for patients at a free drop-in event in Sheffield City Centre on Wednesday 22 April.

27 Mar 2015

Novo Nordisk announces U.S. launch of Novoeight for people living with hemophilia A

Novo Nordisk today announced the company will launch Novoeight (Antihemophilic Factor [Recombinant]) in the United States for people living with hemophilia A.

From Novo Nordisk 26 Mar 2015

University of Michigan scientists grow first 3D mini lungs from human stem cells

Scientists from the University of Michigan have grown the first 3D mini lungs from stem cells. The study, published in eLife, compliments other developments in the field such as growing mainly 2D structures and building lung tissue from the scaffold of donated organs.

25 Mar 2015

Key finding may point to immediate cause of CF exacerbations

In the genetic disorder cystic fibrosis (CF), the most severe symptoms are recurring episodes of lung inflammation and bacterial infection (known as "exacerbations") that happen from one to three times a year and cause ever-increasing amounts of lung damage through the course of a CF patient's life.

24 Mar 2015

Publicly insured Americans who undergo lung transplantation fare worse than their UK counterparts

Publicly insured Americans who undergo lung transplantation for cystic fibrosis fare markedly worse in the long run than both publicly insured patients in the United Kingdom and privately insured Americans, according to the results of a study conducted by researchers from Johns Hopkins in Baltimore and U.K. colleagues working in that nation's government-funded National Health Service.

24 Mar 2015

Male genetic diversity declined due to wealth, power rather than `survival of fittest`

The DNA you inherit from your parents contributes to the physical make-up of your body -- whether you have blue eyes or brown, black hair or red, or are male or female.

23 Mar 2015

Amgen seeks marketing approval of Repatha (evolocumab) in Japan for treatment of high cholesterol

Amgen today announced that an application seeking marketing approval of Repatha (evolocumab) for the treatment of high cholesterol has been submitted for review to the Ministry of Health, Labour and Welfare in Japan.

21 Mar 2015

New method of testing deadly pathogen could help combat cystic fibrosis

A new method of testing the most common cause of life-threatening infection in people with cystic fibrosis could improve efforts to study and combat the illness.

18 Mar 2015

GenomeNext completes whole genome sequencing analysis at unprecedented 1,000 genomes per day

GenomeNext, LLC, a leader in genomic data management and integrated analysis, announced today that, through the "Intel Heads In The Clouds Challenge on Amazon Web Services" with support from JHC Technology, and in conjunction with Nationwide Children's Hospital, has benchmarked whole genome sequencing analysis at an unprecedented 1,000 genomes per day.

18 Mar 2015

Physicians develop new quality measures for treatment of childhood obstructive sleep apnea

A work group of physicians from leading academic medical centers across the country, including NYU Langone Medical Center, has developed new quality measures for the detection and treatment of childhood obstructive sleep apnea (OSA), a potentially morbid, life-altering condition that affects hundreds of thousands of children and adolescents nationwide.

16 Mar 2015

Antibiotic nanoparticles can help treat lung infection, prevent drug resistance

Treating respiratory disease is often difficult because drugs have to cross biological barriers such as respiratory tissue and mucosa, and must therefore be given in large quantities in order for an effective amount to reach the target.

13 Mar 2015

'Turbocharged' protein holds promise in hemophilia gene therapy

Using gene therapy to produce a mutant human protein with unusually high blood-clotting power, scientists have successfully treated dogs with the bleeding disorder hemophilia, without triggering an unwanted immune response.

13 Mar 2015

Melbourne researchers develop new genome editing technology to kill blood cancer cells

Melbourne researchers have developed a new genome editing technology that can target and kill blood cancer cells with high accuracy.

12 Mar 2015

Slow-growing tumors have treatment-resistant stem cells, shows study

Scientists are eager to make use of stem cells' extraordinary power to transform into nearly any kind of cell, but that ability also is cause for concern in cancer treatment.

12 Mar 2015

Organ-on-a-chip could replace use of animals to test drugs for safety and efficacy

When University of California, Berkeley, bioengineers say they are holding their hearts in the palms of their hands, they are not talking about emotional vulnerability.

12 Mar 2015

Type 2 diabetes less common in patients with familial hypercholesterolemia

The prevalence of type 2 diabetes among 25,000 patients with familial hypercholesterolemia (a genetic disorder characterized by high low-density lipoprotein [LDL] cholesterol levels) was significantly lower than among unaffected relatives, with the prevalence varying by the type of gene mutation, according to a study in the March 10 issue of JAMA.

11 Mar 2015

Genetic Disorder News and Research

Further Reading

CVD risk assessment still important in severely obese adolescents

New osteoporosis drug may also be useful for treating brittle bone disease

Synageva announces submission of Kanuma application to Cofepris for treatment of LAL Deficiency

Rare genetic mutation explains why flu can kill in rare cases

Public volunteers to highlight their role in improving care for patients at Sheffield Consumers in Research event

Novo Nordisk announces U.S. launch of Novoeight for people living with hemophilia A

University of Michigan scientists grow first 3D mini lungs from human stem cells

Key finding may point to immediate cause of CF exacerbations

Publicly insured Americans who undergo lung transplantation fare worse than their UK counterparts

Male genetic diversity declined due to wealth, power rather than `survival of fittest`

Amgen seeks marketing approval of Repatha (evolocumab) in Japan for treatment of high cholesterol

New method of testing deadly pathogen could help combat cystic fibrosis

GenomeNext completes whole genome sequencing analysis at unprecedented 1,000 genomes per day

Physicians develop new quality measures for treatment of childhood obstructive sleep apnea

Antibiotic nanoparticles can help treat lung infection, prevent drug resistance

'Turbocharged' protein holds promise in hemophilia gene therapy

Melbourne researchers develop new genome editing technology to kill blood cancer cells

Slow-growing tumors have treatment-resistant stem cells, shows study

Organ-on-a-chip could replace use of animals to test drugs for safety and efficacy

Type 2 diabetes less common in patients with familial hypercholesterolemia

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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