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.

Researchers discover potential treatment for deadly, drug-resistant bacterial infections

Through the serendipity of science, researchers at the University of Pittsburgh have discovered a potential treatment for deadly, drug-resistant bacterial infections that uses the same approach that HIV uses to infect cells.

8 May 2013

Research discovery may lead to effective new treatments for neurodegenerative disease

UCLA researchers led by Drs. Peiyee Lee and Richard Gatti at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research have used induced pluripotent stem cells to advance disease-in-a-dish modeling of a rare genetic disorder, Ataxia Telangiectasia.

8 May 2013

Biomedical engineers grow 3D human heart muscle that acts just like natural tissue

Duke University biomedical engineers have grown three-dimensional human heart muscle that acts just like natural tissue. This advancement could be important in treating heart attack patients or in serving as a platform for testing new heart disease medicines.

7 May 2013

CHOP research offers insights into epilepsy, schizophrenia, other neuropsych disorders

Medical researchers have manipulated human stem cells into producing types of brain cells known to play important roles in neurodevelopmental disorders such as epilepsy, schizophrenia and autism.

3 May 2013

Researchers identify how a defective protein plays central role in Giant Axonal Neuropathy

A team of international researchers led by Northwestern Medicine scientists has identified how a defective protein plays a central role in a rare, lethal childhood disease known as Giant Axonal Neuropathy, or GAN.

29 Apr 2013

New clinical algorithm to treat complex pediatric patients with ARPKD

A collaborative team of physician-scientists at the Medical College of Wisconsin and Children's Hospital of Wisconsin Research Institute has developed a new evidence-based, clinical algorithm to help physicians treat complex patients with autosomal recessive polycystic kidney disease.

29 Apr 2013

Evidence shows progerin induced by ultraviolet light is responsible for premature skin aging

A study conducted by researchers at Boston University School of Medicine (BUSM) provides new evidence that longwave ultraviolet light (UVA) induces a protein that could result in premature skin aging.

26 Apr 2013

University of Utah researchers develop novel technique to identify RNA cytosine methyltransferases

Researchers from Huntsman Cancer Institute at the University of Utah have developed a novel and powerful technique to identify the targets for a group of enzymes called RNA cytosine methyltransferases in human RNA.

23 Apr 2013

International team of researchers joins forces to decode genome of prehistoric fish

An enigmatic prehistoric fish has brought scientists at A*STAR's Institute of Molecular and Cell Biology (IMCB) together with researchers from all over the world to crack its genomic code.

22 Apr 2013

Research shows how breakdowns in DNA copying process contribute to cancer

Research led by a scientist at the University of York has thrown new light on the way breakdowns in the DNA copying process inside cells can contribute to cancer and other diseases.

19 Apr 2013

Santarus, Pharming Group submit Biologics License Application to FDA for RUCONEST

Santarus, Inc. and Pharming Group NV today announced the submission of a Biologics License Application to the U.S. Food and Drug Administration to obtain marketing approval for RUCONEST (recombinant human C1 esterase inhibitor) 50 U/kg, an investigational drug for the treatment of acute angioedema attacks in patients with hereditary angioedema.

17 Apr 2013

Researchers discover new technique that directly converts skin cells into functional brain cells

Researchers at Case Western Reserve School of Medicine have discovered a technique that directly converts skin cells to the type of brain cells destroyed in patients with multiple sclerosis, cerebral palsy and other so-called myelin disorders.

15 Apr 2013

Johns Hopkins researchers to highlight progress in genetic research at international meeting

Johns Hopkins genetics researchers Aravinda Chakravarti, Ph.D., and David Valle, M.D., will each present at the joint conference of the Human Genome Meeting 2013 and the 21st International Congress of Genetics.

15 Apr 2013

Modulation of cerebral endocannabinoid system may help treat Fragile X chromosome syndrome

Researchers at the University of the Basque Country (UPV/EHU) and the Achucarro neurosciences centre have discovered a new therapy for the fragile X chromosome syndrome. This new therapy proposes the modulation of the cerebral endocannabinoid system in order to ameliorate the symptoms of the disease.

11 Apr 2013

Conference on Malignant Hyperthermia to be held in Orlando

Learn the basics on how recognize, diagnose, and treat Malignant Hyperthermia by attending at the "MH Let's Save a Life" conference where patients sit side by side with healthcare professionals, students, and families learning about MH from experts affiliated with MHAUS on June 8, 2013 from 10 am - 4 pm at Orlando Regional Medical Center located in Orlando, FL.

11 Apr 2013

Multiple genes strongly contribute to risk for schizophrenia

Multiple genes contribute to risk for schizophrenia and appear to function in pathways related to transmission of signals in the brain and immunity, according to an international study led by Virginia Commonwealth University School of Pharmacy researchers.

10 Apr 2013

Liver transplants worth risk for people who have genetic liver conditions, study finds

Patients faced with the diagnosis of a life-threatening liver disease have to consider the seriousness of having a liver transplant, which can be a definitive cure for many acquired and genetic liver diseases.

6 Apr 2013

UNC study shows promise for uncovering true mechanisms of human stem cell biology

For the first time, researchers at the University of North Carolina at Chapel Hill have isolated adult stem cells from human intestinal tissue.

5 Apr 2013

Researchers diagnose genetic disease in embryonic DNA without biopsy

Preimplantation genetic diagnosis (PGD) technologies allow identification of genetic disorders in human preimplantation embryos after in vitro fertilization (IVF) and before the embryo is transferred back to the patient.

3 Apr 2013

New research shows how metabolism and physiology are connected to diet

Sometimes you just can't resist a tiny piece of chocolate cake. Even the most health-conscious eaters find themselves indulging in junk foods from time to time. New research by scientists at the University of Massachusetts Medical School raises the striking possibility that even small amounts of these occasional indulgences may produce significant changes in gene expression that could negatively impact physiology and health.

30 Mar 2013