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Eradicating of Genetic Diseases Perhaps Via 'Designer' Babies of 3 Parents
In order to avert children from acquiring life-threatening genetic diseases Sydney scientists are now eager to create designer babies with the DNA of three parents. IVF specialists have argued that...
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Muscle Damage Caused by Genetic Disease can be Treated
Researchers from the University of Edinburgh in Scotland claim that it is possible to treat the muscle damage caused by a genetic disease in babies. The researchers said that the muscle damage caused...
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Rare Genetic Disorder That Turns Organs into Crystals
A distressed couple in Leeds has revealed that both of their children are suffering from a rare genetic disorder that slowly turns their organs into crystals. Jessica Kemp revealed that her daughters,...
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Fresh Insight on Rare Genetic Disorders That Impair Childhood Growth and...
Recent research on rare genetic disorders has opened up fresh insights into those diseases in biological structures that regulate chromosomes when cells divide. Focusing on the cohesin complex, a...
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Genetic Disease Related to Vitamin B12 Deficiency Discovered
Researchers have discovered a novel genetic disease associated with vitamin B12 deficiency. Researchers have identified a gene that is vital to the transport of vitamin into the cells of the body....
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Rare Genetic Disorder can be Studied in New Mouse Model
Researchers can utilize new mouse models to study a rare genetic disorder known as SECISBP2 syndrome which can lead to abnormal thyroid hormone metabolism, delayed bone maturation, as well as other...
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Rare Genetic Disorder Points to Molecular Pathway Linked to Schizophrenia
Scientists studying a rare genetic disorder have discovered a molecular pathway that may play a role in schizophrenia, according to new research in the October 10 issue of iThe Journal of...
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First Effective Treatment of Tumors Arising from Common Genetic Disease NF1...
The first effective therapy for a class of previously untreatable and potentially life-threatening tumors often found in children were reported by physician researchers at Indiana University School of...
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Gene-searching Software Improves Accuracy in Genetic Disease Studies
The software, called ParseCNV, is freely available to the scientific-academic community, and significantly advances the identification of gene variants associated with genetic diseases. A novel...
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Children With Rare Genetic Disorders to Appeal to PM for Financial Help
In a desperate bid to gain financial assistance and better treatment facilities from the government, a group of 100 children suffering from rare genetic disorders carried out a silent march in New...
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Diagnosis of Genetic Disease in Embryonic DNA Without Biopsy
A group of researchers from Italy and the United Kingdom sought to achieve diagnosis of genetic disease in embryonic DNA without the use of a biopsy. The study got published recently in iReproductive...
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Idea of an Italian Scientist to Use HIV to Cure 2 Genetic Diseases Proves...
New research has indicated that the AIDS virus can be used to treat two severe hereditary diseases. After an Italian scientist's "stroke of genius" in 1996, and after years of promising results in the...
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Teen Has Rare Genetic Disorder That Turns Muscles and Tendons into Bones
A 17-year old girl from West London in Britain is suffering from a rare genetic disorder that is turning her muscles and tendons into bones. Seanie Nammock was diagnosed with a condition known as...
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Genetic Disease Which Causes Recurrent Respiratory Infections Discovered
A rare genetic disease which predisposes patients to severe respiratory infections and lung damage has been discovered by Cambridge scientists. For the study, led by the University of Cambridge in...
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Woman Who Suffered from Rare Genetic Disorder Passes Away
A 20-year old woman who suffered from a rare genetic disorder that prevented her from growing both physically and mentally beyond two years of age died last week. Brooke Greenberg from Baltimore...
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Disease That Causes Abnormal Bone Growth Modeled With Help of Stem Cells
A new way to study bone disorders and bone growth has been developed by researchers by using stem cells from patients afflicted with a rare, genetic bone disease. The approach, based on Nobel-Prize...
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Teenage Girl Suffers from Rare Genetic Disease That Has Stunted Her Growth
A 19-year old girl in West Bengal is suffering from a rare genetic condition that has stunted her growth after her second birthday, which makes her look like a toddler even though she is now on the...
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Severe Genetic Disease Prevalent in Moroccan Jews Identified
The genetic basis of a hereditary disease that causes severe brain atrophy, mental retardation and epilepsy in Jews of Moroccan ancestry has been identified by Ben-Gurion University of the Negev (BGU)...
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New Genetic Disease in Children Identified by Joint Venture of Parents and...
A new genetic disease that causes neurologic, muscle, eye and liver problems in children has been identified by the joint efforts of scientists and parents. The discovery was unusually fast thanks to...
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Genetic Disease may Confer Resistance to Certain Viral Infections: Study
bWHAT: /bA rare genetic disease, while depleting patients of infection-fighting antibodies, may actually protect them from certain severe or recurrent viral infections, reports a National Institutes...
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Rare Genetic Disorders Diagnosis Aided by Computer, from Family Snaps
Computer analysis of family photographs could help doctors diagnose the condition of a child with a rare genetic disorder, say Oxford University researchers. The researchers, funded in part by the...
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Potential Treatment for Deadly Genetic Disease Identified
Research has suggested that MPS IIIB is a devastating and currently untreatable disease that causes progressive damage to the brain. It also leads to profound intellectual disability, dementia and...
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Human Genetic Diseases Studied With Fruit Flies
Genetics Society of America (GSA) has organised the 56th Annual Drosophila Research Conference and over 1,500 scientists from 30 countries and 46 states will attend the event from March 4-8 in...
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13-Year-Old Teen With Rare Genetic Disorder Dies After Waiting For...
After battling a rare genetic disorder 13-year-old has died in Bartow County. Dalton Robinson's case was so rare that in the last 20 years only 88 of these transplants had been done. He was one among...
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First Genetic Disease Identification Centre Launched In Kerala
Kerala Institute of Medical Sciences (KIMS) Hospital in collaboration with MedGenome has launched the first genetic disease identification center. M. I. Sahadulla, chairman, KIMS Healthcare Group said...
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Program of Excellence for Rare Genetic Disorder Affecting Kids
To develop effective treatments for children with CDKL5, a rare X-chromosome-linked genetic disorder that causes severe neuro-developmental impairment and early-onset, difficult-to-control seizures,...
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Cells' Low-Oxygen Alarm Stops Flare-Ups in Rare Bone Disorder
The cellular response to the lack of oxygen fans the flames of flare-ups in a rare bone disorder. In fibrodysplasia ossificans progressiva (FOP), a mutation triggers bone growth in muscles, which...
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New And Rare Genetic Disease Identified
When the youngster arrived at Duke University School of Medicine six years ago at the age of three, he had mild developmental delays and physical characteristics that included a large body and large...
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Cellular Model to Study Rare Genetic Disease Reveals New Stem Cell Pathway
Induced pluripotent stem cells (iPSCs), stem cells created from skin cells that can be transformed into any type of cell in the body, revolutionized biomedical science. They have contributed to...
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Rare Childhood Genetic Disease Linked With a Major Cancer Gene
Fanconi anemia, a rare childhood genetic disease, is characterized by birth defects, bone marrow failure and increased cancer risk. About one in 150,000 children in the United States is born with...
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Alpha-lipoic Acid Prevents Kidney Stones in Rare Genetic Disease
bHighlights/b ul class = "group-list punch-points" li Alpha-lipoic acid (ALA) is an anti-oxidant which naturally occurs in the body and in spinach, rice bran, brussel sprouts, organ meat. /li li ALA...
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New Insight into Odor Producing Rare Genetic Disease
bHighlights/b ul class="group-list punch-points" liMutations in a single gene, FM03, has been atrributed to the cause of trimethylaminuria (TMAU), which is characterized by fish-like odor symptoms./li...
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Facial Recognition Software Helps to Diagnose Rare Genetic Disease
Facial recognition software has been successfully used to diagnose a rare, genetic disease in Africans, Asians and Latin Americans, finds a research team at the National Human Genome Research...
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Mechanism Behind Rare Genetic Disease in Babies Revealed
A rare but severe genetic disease that affects babies, children, and adults is caused by gene mutations that destroy the function of a protein but the physiological function was little understood. In...
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Many Patients Carry Rare Genetic Disease Risks
Whole genome sequencing reveals the complete DNA make-up of an organism, enabling us to better understand variations both within and between species. This in turn allows us to differentiate between...
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Rare Genetic Disorder Associated With Abnormal Levels of Spermine
bHighlights/b ul class = "group-list punch-points" liA newly discovered biomarker associated with Mucopolysaccharidoses (MPS), a family of rare genetic disorders has been identified. /li li The...
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Genes That Cause Lysosomal Storage Disorder Linked To Parkinson's
A group of lysosomal storage disorder genes is potential major contributors to the onset and progression of Parkinson's disease. "In recent years, defects in the glucocerebrosidase (GBA) gene have...
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Scientists Identify Cause of AEC Syndrome, a Severe Genetic Disease
Goethe University Frankfurt scientists in collaboration with a research group from the University of Naples Federico II have now identified that AEC syndrome resembles diseases such as Alzheimer's,...
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Mystery Behind Rare Bone Disorder Cracked
A genetic basis of "dripping candle wax" bone disease has been uncovered by National Institutes of Health researchers. The rare disorder, known as melorheostosis, causes excess bone formation that...
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Research Explains Cause of Rare Genetic Disease Goldman-Favre Syndrome
New research will help ophthalmologists and scientists better understand a rare genetic disease that causes increased susceptibility to blue light, night blindness, and decreased vision called...
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Genetic Diseases may be Treated With Patient's Own Stem Cells in Future
A new study published in the journal Nature has suggested that people with genetic diseases can be treated with their own cells in the future after a group of researchers managed to correct a genetic...
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Phenylketonuria, the Genetic Disease Healed Using Genome Editing
CRISPR/Cas9 system was found to show promising results to correct both mutated genes in the liver cells and thus heal the metabolic disorder phenylketonuria. Parents of newborns may be familiar with...
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AI can Identify Risk of Genetic Disease Causing High Cholesterol
bHighlights:/bul class="group-list punch-points"liNew AI-based technology can detect patients with familial hypercholesterolemia - a genetic disease that causes high blood cholesterol/liliThe...
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Manuka Honey Kills Drug-resistant Bacteria in Genetic Disease
Manuka honey could act as an alternative to antibiotic to treat drug-resistant respiratory infections in a genetic disorder called Cystic Fibrosis (CF), according to Dr. Rowena Jenkins and Dr. Aled...
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New Treatment Benefits Patients With Rare Genetic Disorder
In patients with a rare and aggressive form of leukodystrophy, a class of targeted therapy drugs could help improve their neurological function, revealed new findings published today in the i New...
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FDA Approves the First Drug to Treat an Rare Genetic Disorder Which Causes...
The US Food And Drug Administration (FDA) has approved lumasiran subcutaneous injection to treat adults and children with primary hyperoxaluria type 1 (PH1) - an ultra- rare genetic disorder. PH1...
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Lethal Genetic Disease Might Be Efficiently Treated Using Gene Editing
Lysosomal storage disease can be corrected using prenatal editing in a preclinical model as per a proof-of-concept study at the Children's Hospital of Philadelphia (CHOP), published in the journal...
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Repurposed Amyotrophic Lateral Sclerosis (ALS) Drug Against Rare Genetic...
Riluzole, a repurposed ALS (amyotrophic lateral sclerosis) drug may help slow down a rare genetic disorder called Niemann-Pick disease type C1 (NPC1 - characterized by the gradual loss of a particular...
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Mechanism Involved in Transmission of Genetic Disease from Mother to Child
A new mechanism discovered by scientists helps explain how certain kinds of genetic disorders known as mitochondrial diseases are transmitted from mother to child. The study it reports could serve as...
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New Genetic Disease That Delays Brain Development in Children Discovered
A novel genetic disease drives some kids' brains to develop abnormally, resulting in delayed intellectual development. Most patients with the condition that is so new it doesn't have a name yet, have...
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