More articles about: Genetic Disorders
2020 SCN8A Malcolm
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New Therapy Stops Seizures in Mouse Model of Rare Childhood Epilepsy
Researchers have made a genetic breakthrough in mice that could lead to new, revolutionary treatment options for SCN8A-related encephalopathy seizure disorder in babies.
Residents standing near one another with clouds over some
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Who Gets Depressed Under Intense Stress? Genetic Risk Prediction Shows Promise
Medical residents called interns serve as a test population to show the promise of a predictive genetics tool called a polygenic risk score in depression risk and resilience.
Zion sitting on steps outside his home with his parents.
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7-Year-Old Receives New FDA-Approved Retina Gene Therapy
Gene therapy may prevent blindness from rare eye disease Leber congenital amaurosis.
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Retinitis Pigmentosa in Children: 5 Facts Families Should Know
The genetic disease that causes vision loss can affect all ages, including young people. Learn more about symptoms, risk factors and management.
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Gene Discovery Shows Effects of Impaired Protein Synthesis
Researchers identify genetic variants that lead to a severe developmental syndrome. The findings could mean better screening and diagnosis for patients with inherited syndromes.
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New DNA ‘Shredder’ Technique Goes Beyond CRISPR’s ‘Scissors’
A tool borrowed from bacteria successfully seeks out, cuts and destroys long stretches of human cells’ DNA, opening doors to new uses in research and treatment.
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U-M Team Designs an App for HHT Patients
A Michigan Medicine professor and a U-M medical student created an app to help patients manage HHT, a systemic blood vessel disorder characterized by excessive nose bleeding.
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Study Sheds More Light on Genes’ ‘On/Off’ Switches
Regulation of genes by noncoding DNA might help explain the complex interplay between our environment and genetic expression.
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Gene Therapy Treatment Targets Rare Mutation Tied to Blindness
: Advances in gene therapy are yielding new options for treating inherited retinal degenerations, giving retina specialists new tools — and new hope for patients and families.
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Fragile X Syndrome Research Gains Momentum
With the help of a new human embryonic stem cell line, researchers make initial strides toward treatment for the genetic mutation.
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Finding Curative Potential Within a Gene Mutation
Training one gene to “pinch hit” for its twin could be a possible treatment for a type of congenital anemia, new research finds.
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Pros and Cons of Genetic Testing: What to Know Before You Go
Read about the pros and genetic testing and some of the negatives of genetic testing, and how genetic screening tests assist in understanding disease risks.
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Largest Psoriasis Meta-Analysis to Date Yields New Genetic Clues
Learn more about the most recent study from U-M’s long-standing psoriasis work, a new study that builds on the genetic architecture of psoriasis, the next step toward answering what in the genes causes the disease.
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Bound by Marfan Syndrome, a Family Encourages Awareness
After a multigenerational diagnosis of a congenital heart defect, one close-knit Michigan family is committed to living life to the fullest.
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What You Should Know About Counseling and Testing for Genetic Heart Disease
Get answers to frequently asked questions about genetic screening for inherited heart diseases such as Marfan syndrome or hypertrophic cardiomyopathy.