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Cellular Model of a Rare Genetic Condition Created

The first cellular model of chronic granulomatous disease (CGD) the rare genetic condition has been created by Sainte-Justine and Universite de Montreal researchers.




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Fragile X Syndrome Treatment: New Insights

Scientists are working globally to educate clinicians and families on how to identify, test and provide care for those born with fragile X syndrome, often linked to autism.




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Genetic Screen Aids to Find New Drug Targets for Huntington's

Genetic screening helped to detect genes that protect against the toxic effects of a mutant protein causing Huntington's disease. These efforts yielded




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New Test Detects Kids at Higher Risk for Cystic Fibrosis Liver Disease

Research-based ultrasound exams help detect kids at high risk of developing cystic fibrosis liver issues, according to a study involving 11 clinical sites




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Gene Therapy Prevents Disorders With Alcohol Exposure in ALDH2 Deficiency, Says Study

Gene therapy to treat aldehyde dehydrogenase type 2 (ALDH2) deficiency helps prevent increased risk for esophageal cancer and osteoporosis linked to chronic alcohol exposure, revealed study.




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Disease-causing Repeats Help Human Neurons Function, Says Study

Gene repeats that cause Fragile X Syndrome normally regulate how and when proteins are made in neurons, said a Michigan Medicine team. This process may




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Stem Cell Transplants in Utero: Fresh Insights

A new study in mice has revealed administering stem cell or enzyme therapy in utero paves path to alleviating some congenital diseases that often result in losing a pregnancy.




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Fatty Acids Help Determine Skeletal Stem Cell Development

Specific nutrients were found to directly influence the stem cell development, revealed Biomedical scientists from KU Leuven and Harvard University published these results in Nature.




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Study Finds Link Between Genes and Ability to Exercise

New study has discovered a genetic mutation that reduces a patient's ability to exercise efficiently. The findings of the study are published in the iNew England Journal of Medicine/i.




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New Method Improves Stem Cells to Improve Bone Marrow Transplantation

A novel approach to enhance the potency of blood-forming stem cells, potentially opening the door to a new approach for bone marrow transplantation has been discovered by Mount Sinai researchers.




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New Toolkit of Proteins can Repair Breaks in DNA

Accumulation of DNA breaks can cause aging, cancer, and Motor Neurone Disease (MND). But a novel toolkit discovered could help repair DNA breaks caused




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Novel CRISPR Technology may Target RNA, Including RNA Viruses Like Coronavirus

New genetic screening platform using CRISPR technology for targeting thousands of genes in a massively-parallel fashion give an accurate and fast method




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Old Human Cells Rejuvenated With Stem Cell Technology: Study

Youthful strength can be regained after the existing muscle stem cells are subjected to the rejuvenating protein treatment, and transplanted back into our bodies, reports a new study.




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Gene Therapy Prevents Heart Dysfunction in Barth Syndrome

Gene therapy could prevent or reverse cardiac dysfunction in Barth syndrome according to the new research at Boston Children's Hospital. The findings,




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CRISPR, Gene Editing Tool to Find Muscular Dystrophy Treatments

CRISPR-Cas9, the gene editing technology helps better understand facioscapulohumeral muscular dystrophy (FSHD) and explore potential treatments, found new study.




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New Method of DNA Synthesis Helps Tackle COVID-19 Pandemic

DNA synthesis is transforming diagnosis and treatment of COVID-19, and may play a vital role in halting the pandemic. Allie Nawrat, Senior Medical




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New Gene for Rare Disease of Excess Bone Growth Identified

New gene that causes melorheostosis, a rare group of conditions involving painful and disfiguring overgrowth of bone tissue, is identified by the team




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New Mechanism to Explain Role of Gene Mutations in Kidney Disease Uncovered

Novel mechanism that helps explain how certain genetic mutations give rise to a rare genetic kidney disorder called nephrotic syndrome has been mapped




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Personal Medicine Closer to People With Diverse Origins

New study proposes a method to extend polygenic scores, the estimate of genetic risk factors and personalized medicine revolution, to individuals with




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Gene Therapy can Improve Treatment of Neurological Diseases

New study has found a recently developed system for switching on the activity of genes that could improve treatments for a broad range of neurological diseases.




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New Gene Therapy Successfully Treats Glaucoma

Gene therapy could improve quality of life for many glaucoma patients. The research team tested a new approach that could provide additional treatment options and benefits.




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Behavioral Intervention can Improve Language Skills in Youth with Fragile X

New study finds more evidence for the efficacy of a telehealth-delivered behavioral intervention in treating language problems in youth with fragile X syndrome (FXS).




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Cold-induced Urticarial Rash: A New Hereditary Disease

New, previously unknown form of inflammatory skin disorder known as familial (hereditary) cold urticaria develops when exposed to temperatures below 15




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Gene Defects Tied to Eczema, Wheeze and Nasal Disease Among Babies

New study finds a link between a common gene defect and eczema, nasal blockage, and wheeze among kids as young as six months. The study raises further




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New Gene variations Associated With Childhood Speech Disorder

New study analyzed the genetic make-up of 34 affected children and young people with apraxia. Results revealed that variations in nine out of eleven genes are responsible for apraxia.




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Genetic Scoring Detects Risky Men for Aortic Aneurysm

Novel genetic risk assessment tool detected more men at increased risk for an abdominal aortic aneurysm, according to the study presented at the American




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Patterns of Drug Intoxication Deaths, Organ Donors Across the US Revealed

Scientists have reported substantial variability from state to state and region to region in the number of donor organs recovered from drug-intoxication-related deaths.




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Liver Transplants From Older Donors Decrease Despite Improved Outcomes In Recipients

Even though recipients who received liver grafts from older donors (70 and older) had improved outcomes with reduced mortality, graft loss and postoperative




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Use of HCV-Infected Organs Viable for Patients Awaiting Heart Transplants

Nine patients infected with hepatitis C virus (HCV) after receiving lifesaving heart transplants from deceased donors who were infected with the disease




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Antiviral Therapy Improves Survival Rates for Kidney Transplant Recipients With Hepatitis: Study

Hepatitis B and C viral control was found to improve kidney transplant survival rates, stated study published in the Journal of Hepatology. Renal




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Blood Stem Cells Facilitate Harvest for Transplants

Blood-forming stem cells' stiffness was found to facilitate mobilization procedures used for stem cell-based transplants, said Winship Cancer Institute




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Hepatitis C Infected Organs can be Safely Transplanted: Study

Doctors can safely transplant hepatitis C-infected hearts and lungs into people who are in dire need for a new organ, reports a new study. The findings




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Racial Disparities Exist in Kidney Transplants

Despite a new system designed to reduce inequities, significant racial disparities exist among patients awaiting kidney transplants, finds a new study.




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Five-month-old Girl Becomes the Youngest Indian to Get Liver Transplant

Ariana Dey, a Kolkata-based newborn, has become India's youngest liver transplant patient, says the doctors from Max Super Speciality Hospital in New Delhi.




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World's First Baby Born After Robot-assisted Uterus Transplant

First baby boy was born after the technological shift in Gothenburg's world-leading research on uterine transplantation. The boy was 48 centimeters long,




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De Novo Donor-specific Antibodies Linked to Blood Vessels Thickening After Kidney Transplant

After kidney transplant, kids who developed anti-human leukocyte antibodies against their donor kidney, known as de novo donor-specific antibodies (dnDSA)




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New Study Measures Quality of Life After Pediatric Kidney Transplant

Pediatric kidney transplant patients may experience quality-of-life difficulties that underscore the importance of screening transplant recipients for




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Viability of Donated Livers: Fresh Insights

New study on the viability of donated livers and its correlation with donor demographics has been conducted by a group of researchers from Harvard Medical




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Quantitative Biomarker to Test Corneal Cell Quality and Life

Corneal transplantations are old and common. Cornea restoration is now a safe technique because of the advent of colloid physics, a quanititative biomarker is designed.




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New Technique May Eradicate World's Need for Liver Transplants

A new liver cell has been identified, which may eradicate the need of liver transplant in the near future. As there is an alarming rise in need of a liver




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Many Kidneys Discarded in the United States Would be Transplanted in France: Study

French transplant centers are far more likely to transplant kidneys from older donors, revealed new study led by Penn Medicine and Paris Transplant Group.




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Priority Rule for Organ Donors Could Have Unintended Consequences, Says Study

Scientists have created a simulated organ market and placed a dollar value factor using data from the U.S. Organ Procurement and Transplantation Network.




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Rare Liver Swap Transplant Saves Lives of Doctor, Farmer

55-year-old Mumbai doctor who has liver cancer, and a 36-year-old Kolhapur farmer putting up with end-stage liver failure have successful liver transplants




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Patients Die on Wait List as US Transplant Centers Refuse Donor Kidneys

Transplant centers are declining viable kidneys on behalf of patients whose lives might have been saved by the organs, reports a new study. The findings




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Novel Study Offers Solution to Decrease Organ Shortage Crisis

New study provides incentives to boost organ supply without compromising organ quality or inducing excessively high costs of donating. The findings of




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US Pediatric Heart Transplant Waitlist Policy Is Not Working as Planned

The waitlist policy which aimed to protect children lives by giving importance to children anticipating heart transplantation in the U.S has unwanted consequences.




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New Findings Enable More Heart Donations: Study

Many hearts are reported unfit for donation due to stress-induced heart failure. But a new study finds that this condition has no significance on the




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TN Govt Partners with Facebook to Improve Donor Networks in the State

Tamil Nadu government announced that it had directed all blood banks in the state to use the blood donation feature on Facebook to reach out to the voluntary donors.




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New Study Aims to Improve Long-Term Lung Transplant Outcomes

New research studies the lung transplant recipients to identify the underlying biologic mechanisms that determine the effectiveness and to improve long-term outcomes of the transplant.




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Variation in Transplant Centers' Use of Less-than-ideal Organs Examined

A tool to assess organ acceptance practices by transplant centers found wide variability in centers' willingness to use less-than-ideal donor kidneys has been developed by researchers.