Genetic Diseases (312 News)

New Advance in Genetic Changes Analysis Software

Jun 26, 2019 5:00 pm
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Diseases caused by genetic changes could be detected more readily thanks to an advance in DNA analysis software. The development will make it easie...

Three Mutations Collaborate to Induce Congenital heart Disease

Jun 25, 2019 11:00 am
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Congenital heart disease occurs in up to 1% of live births, and the infants who are affected may require multiple surgeries, life-long medication, ...

Researchers Use Stem Cell-Based Disease Models to Pinpoint Gene Linked to Impaired Memory in down Syndrome

Jun 13, 2019 5:00 pm
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Targeting a key gene before birth could someday help lead to a treatment for Down syndrome by reversing abnormal embryonic brain development and im...

The Nerve Fibers and Schwann Cells Interact During the Initial Growth and Expansion of the Neurofibromas 1

Jun 4, 2019 1:00 pm
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A study published today in PLOS ONE discovered the origin of severely disfiguring masses of cells, called neurofibromas, that gradually develop thr...

CENTOGENE Announced the Launch of CentoMetabolic™, a First-Line Test for Rare Genetic Metabolic Diseases

May 21, 2019 5:00 pm
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CentoMetabolic™ Panel for Integrated Multiomic Testing for Metabolic Diseases Combining genetic and biochemical testing to provide the most c...

Do You Accept To Do a Genetic Test That Determines if You Are Going to Have a Lethal Neurological Disease?

May 19, 2019 4:00 pm
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As many as 90 percent of individuals who have a parent with Huntington's disease (HD) choose not to take a gene test that reveals if they will als...

Researchers Discovered a New Way to Target The Leading Genetic Contributor to Parkinson's Disease

May 19, 2019 2:00 pm
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The discovery of a new way to target and treat the leading genetic contributor to Parkinson's may open the way for a potential new clinical treatm...

Limiting Oxygen Could Control Symptoms of Friedreich’s Ataxia

May 19, 2019 1:00 pm
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Study in cell models and mice suggests that limiting oxygen could control symptoms of Friedreich’s ataxia, though more work is needed to demonst...

Researchers Identify Genetic Variants That Might Contribute to AMD

May 19, 2019 11:00 am
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Age-related macular degeneration (AMD) is one of the most common causes of vision loss in people over age 65. The exact cause is unknown, but the f...

Detection of New Molecules Involved in Congenital Hepatic Fibrosis Using Genome Editing

May 18, 2019 1:00 pm
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Congenital hepatic fibrosis (CHF) is a rare genetic disease that causes malformation and fibrosis (scarring) of the liver. Occurring in roughly one...

Targeting Cell Energy May Help in Autosomal Dominant Polycystic kidney Disease Treatment

May 15, 2019 12:00 pm
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The best hope for people with an inherited form of kidney disease that causes kidney failure is dialysis or a kidney transplant. But a study led by...

Developmental Impairments Are Not Due to Acidic Blood in pRTA

May 6, 2019 3:00 pm
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Preclinical findings will pave the way for better therapies; the paper also gave the first author, an undergraduate, insights into scientific research...

Researchers Identify 100 New Risk Genes for Cleft Palate and Lips

May 6, 2019 2:00 pm
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Penn research identifies 100 new risk genes that could aid craniofacial clinicians in the future PHILADELPHIA—Cleft lip and palate (CL/P) is th...

A New Hope for Adult Autism Patients by Restoring SynGAP1 Protein

May 6, 2019 12:00 pm
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A new study challenges the presumption that people born with developmental brain disorders such as severe autism will benefit from medical interventio...

Scientists Developed a Strategy for Repairing Microduplications Mutations Using CRISPR/Cas9 and a Seldom-Used DNA Repair Pathway

Apr 30, 2019 7:00 pm
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Scientists at UMass Medical School have developed a strategy for editing and repairing a particular type of genetic mutation associated with microd...

Researchers Discover a Natural Gene Therapy for Intractable Skin Disease

Apr 30, 2019 1:00 pm
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Pathogenic gene mutations causing a type of intractable skin disease can be eliminated from some parts of patients’ skin as they age, according ...

Using CRISPR-Cas9; Scientists Replaced a Mutant Gene That Causes X-linked Severe Combined Immunodeficiency in A Preclinical Trial

Apr 29, 2019 1:00 pm
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In preclinical trials, Stanford scientists and their collaborators harnessed the gene-editing system CRISPR-Cas9 to replace the mutated gene underp...

CRISPR Gene Editing in Utero Improves Survival in Mice with Fatal Lung Disease

Apr 29, 2019 11:00 am
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Using CRISPR gene editing, a team from Children’s Hospital of Philadelphia (CHOP) and Penn Medicine have thwarted a lethal lung disease in an an...

Short Tandem Repeat Expansion Causes a Rare Genetic Metabolic Disorder

Apr 23, 2019 6:00 pm
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A new study from BC Children's Hospital, the University of British Columbia (UBC) and an international team of researchers published in the New...

Researchers Develop a New Test to Help Personalized Treatment for Cystic Fibrosis

Apr 20, 2019 1:00 pm
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Cystic fibrosis is a devastating disease caused by mutations in a specific gene, known as the CFTR gene. But not everyone with cystic fibrosis has ...


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