More articles about: Genetic Disorders
little girl on beach
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A rare genetic condition with an even rarer treatment
Doctors try to improve one four-year-old’s life and other patients like her
 heart image lab note navy blue yellow
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When FMD hits a family, abdominal aortic aneurysms may too
Study finds shared genetics between two inherited diseases of the arteries.
 doctor smiling window hallway sunlight
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Living with sickle cell: From isolation to pursuing medical school, advocacy
Medical student shares journey with painful disease disproportionately affecting African Americans and why she wants to help others.
 image of drawing of gene in blue ink on lined paper with lab note written on bottom right
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New genes identified for fibromuscular dysplasia
Genetic meta-analysis helps researchers detect genes related to this cardiovascular disease that affects mostly women and defines relationships to other more common cardiovascular conditions.
 family gathered outside taking a photo in front of trees in nice clothing
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Family finds answers to rare, genetic glaucoma
When a father and his two kids developed an array of peculiar symptoms, doctors, Brazilian researchers and the NIH partnered to find a diagnosis and path to treatment.
 Toddler walking on dirt path surrounded by trees
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Baby Gets Early Stem Cell Transplant to Treat Rare Disease Thanks to Newborn Screening
MPS-1 had recently been added to the newborn screening panel when Minette was born, leading to an early diagnosis and the first stem cell transplant at Mott for a lysosomal storage disorder. 
 little girl doing muscle pose in doctor's office wearing a blue Michigan shirt
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A 4-Year-Old’s Journey with Sickle Cell Disease
After Shavonn Burgess got her daughter’s diagnosis, she had no idea how her family would cope. Now, after a year of blood transfusions and spleen removal, they’ve found a new normal.
 microscope in lab
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Genetic Study Uncovers Mutation Associated with Fibromuscular Dysplasia
Researchers report first clinically actionable findings for a rare blood vessel disease in a study of four unrelated families, all with the same genetic variant.
 Young women holding her chest near heart
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Uncovering the Genetics Behind Heart Attacks That Surprise Young, Healthy Women
New genetic research finds spontaneous coronary artery dissection, or SCAD, heart attacks may be more similar to different diseases than to other heart attacks.
 drawing of a pink brain on a dark pink background
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Investigational New Therapy Prevents Onset of Dravet Syndrome Symptoms in Mice
Development is first step to helping children with the rare epilepsy syndrome.
 Drawing of a gene
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Brain’s Ability to Rewire Itself is Connected to Gene Expression
New technique provides insight into the role of genes in brain’s plasticity and cognitive disorders.
 drawing of gene on notebook paper
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Modifying Writer and Eraser Enzymes Reverses Neurodevelopmental Disorders in Mice
Mouse models of two rare brain development disorders see their conditions corrected through manipulation of histone H3K4me.
 Dad and son at baseball game
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New HHT Center Gives Hope to Father and Son with Rare Genetic Disease
Chronic, severe nosebleeds from hereditary hemorrhagic telangiectasia (HHT), or Osler-Weber-Rendu disease, were a frequent tradition in the Gutowski family until recent treatments offered help.
 Graphic with a large microscope and two small scientists standing in front with a third on a ladder looking through the eyepiece.
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The Reality of Being Rare
We may be on the horizon of a revolution in understanding rare diseases and developing new treatments, but for those living with rare diseases, raising awareness now about these little known conditions is key.
 DNA graphic in white with rainbow colors behind
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10 Studies That Highlight the Importance of Rare Disease Research
Rare Disease Day is celebrated across the globe to raise awareness about rare diseases and how they impact patients’ lives. Michigan Medicine is working to better understand the mechanisms behind these rare diseases.
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