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.

Scientists identify gene that causes hereditary hypertension and brachydactyly type E

Individuals with this altered gene have hereditary hypertension (high blood pressure) and at the same time a skeletal malformation called brachydactyly type E, which is characterized by unusually short fingers and toes. The effect on blood pressure is so serious that -- if left untreated -- it most often leads to death before age fifty.

11 May 2015

GTEx findings reveal how genomic variants can affect gene activity and disease susceptibility

Researchers funded by the National Institutes of Health Genotype-Tissue Expression (GTEx) project have created a new and much-anticipated data resource to help establish how differences in an individual's genomic make-up can affect gene activity and contribute to disease.

8 May 2015

Positive data from two studies analyzing Good Start's test for inherited diseases presented at ACOG 2015

Good Start Genetics, Inc., a commercial-stage molecular genetics information company, today presented data from two studies analyzing detection rates among patients at in vitro fertilization (IVF) clinics who underwent carrier screening for inherited diseases. The studies were presented at the 2015 Annual Clinical and Scientific Meeting of The American College of Obstetricians and Gynecologists being held in San Francisco, Calif.

7 May 2015

Researchers compile new genomic interactions catalogue

New clues about diseases like inflammatory bowel disorder may be found thanks to a new genomic interactions catalogue by a group of researchers in Japan and the United Kingdom. This research will be published on May 4, 2015 in Nature Genetics.

6 May 2015

Tuberous Sclerosis Alliance to observe fourth annual TSC Global Awareness Day

On May 15, the Tuberous Sclerosis Alliance (TS Alliance) will join tuberous sclerosis complex (TSC) organizations around the world to observe the fourth annual TSC Global Awareness Day.

5 May 2015

New understanding of how Huntington's disease gene works

Huntington's disease is caused by a mutation in the Huntington's disease gene, but it has long been a mystery why some people with the exact same mutation get the disease more severely and earlier than others. A closer look at the DNA around the Huntington's disease (HD) gene offers researchers a new understanding of how the gene is controlled and how this affects the disease.

5 May 2015

Makindus' MI-100 granted EMA orphan drug designation for treatment of Stargardt's Disease

Makindus, Inc. a specialty pharmaceutical development company focused on ophthalmology announced today that the European Medicines Agency has granted orphan drug designation for their lead candidate, MI-100, for the treatment of Stargardt's Disease.

4 May 2015

UC Davis researchers settle long-standing controversy surrounding Canavan disease

UC Davis investigators have settled a long-standing controversy surrounding the molecular basis of an inherited disorder that historically affected Ashkenazi Jews from Eastern Europe but now also arises in other populations of Semitic descent, particularly families from Saudi Arabia.

28 Apr 2015

Yale researchers successfully correct gene mutation that causes cystic fibrosis

Yale researchers successfully corrected the most common mutation in the gene that causes cystic fibrosis, a lethal genetic disorder. The study was published April 27 in Nature Communications.

28 Apr 2015

Novel genetic datashare initiative launched to improve detection of inherited breast and ovarian cancers

Quest Diagnostics, the world’s leading provider of diagnostic information services, and Inserm, the French National Institute of Health and Medical Research institution, today launched BRCA Share, a novel datashare initiative they co-founded to provide scientists and laboratory organizations around the world with open access to BRCA1 and BRCA2 genetic data.

From Quest Diagnostics 22 Apr 2015

University of Washington receives PPMD grant to continue analysis of spectrin-like repeats in dystrophin

Parent Project Muscular Dystrophy, a nonprofit organization leading the fight to end Duchenne muscular dystrophy (Duchenne) awarded University of Washington a $148,000 grant to continue the functional analysis of spectrin-like repeats in dystrophin.

20 Apr 2015

Novel findings may hold promise for children, adults with mitochondrial disorders

Rooted in malfunctions in the tiny power plants that energize our cells, mitochondrial disorders are notoriously complex and variable, with few effective treatments. Now, novel findings in microscopic worms may hold great promise for children and adults with mitochondrial disorders

16 Apr 2015

Johns Hopkins researchers link sperm with specific 'epigenetic tags' to autism

In a small study, Johns Hopkins researchers found that DNA from the sperm of men whose children had early signs of autism shows distinct patterns of regulatory tags that could contribute to the condition. A detailed report of their findings will be published online in the International Journal of Epidemiology on April 15.

15 Apr 2015

Managing autosomal dominant polycystic kidney disease: an interview with Dr Richard Sandford, University of Cambridge

Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common inherited kidney diseases. It's also one of the most common reasons that people require dialysis or transplantation...

13 Apr 2015

Stem cell disease model reveals how tumor suppressor may drive bone cancer

Using induced pluripotent stem cells (iPSCs), a team led by Mount Sinai researchers has gained new insight into genetic changes that may turn a well known anti-cancer signaling gene into a driver of risk for bone cancers, where the survival rate has not improved in 40 years despite treatment advances.

10 Apr 2015

Humans carry recessive disease mutations that can cause severe genetic disorders or prenatal death

Humans carry an average of one to two mutations per person that can cause severe genetic disorders or prenatal death when two copies of the same mutation are inherited, according to estimates published today in the journal GENETICS.

9 Apr 2015

Study 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.

9 Apr 2015

Phase 2 IMAGO trial of SHP625 fails to meet primary endpoints in pediatric patients with ALGS

Shire plc today announced that the 13-week Phase 2 IMAGO trial of its investigational compound SHP625 (LUM001) did not meet the primary or secondary endpoints in the study of 20 pediatric patients with Alagille syndrome (ALGS), a rare, life-threatening genetic disorder that presents with chronic cholestasis (accumulation of bile acids in the liver) and severe pruritus (itching).

9 Apr 2015

Study: Broken communication in brain regions appears to worsen Huntington's disease

Indiana University researchers have found that broken communication in a specific part of the brain plays a role in the involuntary physical movements that affect individuals with Huntington's disease.

7 Apr 2015

New resource available to help older Chinese Americans better understand their healthcare needs

On the eve of National Minority Health Month, which helps raise awareness for disparities in health and care among minorities in the U.S., a new resource is available to help one such group, older Chinese Americans, better understand and drive their own well-being.

3 Apr 2015

Genetic Disorder News and Research

Further Reading

Scientists identify gene that causes hereditary hypertension and brachydactyly type E

GTEx findings reveal how genomic variants can affect gene activity and disease susceptibility

Positive data from two studies analyzing Good Start's test for inherited diseases presented at ACOG 2015

Researchers compile new genomic interactions catalogue

Tuberous Sclerosis Alliance to observe fourth annual TSC Global Awareness Day

New understanding of how Huntington's disease gene works

Makindus' MI-100 granted EMA orphan drug designation for treatment of Stargardt's Disease

UC Davis researchers settle long-standing controversy surrounding Canavan disease

Yale researchers successfully correct gene mutation that causes cystic fibrosis

Novel genetic datashare initiative launched to improve detection of inherited breast and ovarian cancers

University of Washington receives PPMD grant to continue analysis of spectrin-like repeats in dystrophin

Novel findings may hold promise for children, adults with mitochondrial disorders

Johns Hopkins researchers link sperm with specific 'epigenetic tags' to autism

Managing autosomal dominant polycystic kidney disease: an interview with Dr Richard Sandford, University of Cambridge

Stem cell disease model reveals how tumor suppressor may drive bone cancer

Humans carry recessive disease mutations that can cause severe genetic disorders or prenatal death

Study may point to immediate cause of CF exacerbations

Phase 2 IMAGO trial of SHP625 fails to meet primary endpoints in pediatric patients with ALGS

Study: Broken communication in brain regions appears to worsen Huntington's disease

New resource available to help older Chinese Americans better understand their healthcare needs

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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