Two patients at UMass Memorial Medical Center with Tay-Sachs disease received gene therapy to attempt to correct the mutation in the HEXA gene that causes the disease. The patients that…
A UK study has shown that there may be a genetic variant carried by 40% of Crohn’s disease sufferers that explains why some patients develop antibodies against some of the…
PROMISE is a huge screening study for multiple myeloma that will invite 50,000 participants who have a higher likelihood of developing multiple myeloma. Dr. Irene Ghobrial of the Dana Farber…
Outcomes of a pilot study on Gaucher disease using a mobile phone app and wearable technology demonstrate a more accurate approach to disease assessment. Gaucher disease is a lysosomal storage…
Antiphospholipid syndrome (APS) causes various complications, one of which is thrombosis. Researchers are looking at ways to assess an APS patient’s risk of thrombosis, which covers various factors. Treatment will…
Researchers are studying gene replacement therapy in rare diseases at UT Southwestern Medical Center. Many rare diseases are caused from a defect in a single gene, so replacing the defective…
We just read exciting news for the SCID community from Stanford researchers. The original study was published in Nature Communications, but a summary appeared in Medical Xpress. The researchers have…
Genetic testing, such as 23andMe, has been approved by the FDA for direct-to-consumer genetic testing. However, this type of testing has not been approved to predict rheumatic diseases. Research is…
Rare disease isn't as rare as it sounds. Ten percent of Americans have a rare disease-- and there are almost 7,000 known rare diseases. A rare disease, also known as…
Duchenne muscular dystrophy (DMD) has gained recent attention. New symptom management and gene therapy treatments are at the forefront of DMD research. DMD is a genetic disease characterized by progressive…
A new study published in the journal Cell Reports identifies possible new treatments for absence (silent) seizures in children with Dravet syndrome. Children with Dravet syndrome have developmental delays, cognitive…
EndoLogic’s study of their new gastroparesis drug, renzapride, showed no evidence of cardiotoxicity. Renzapride is a 5-HT4 agonist and 5-HT3 antagonist that has been successful in treating the symptoms of…
University of Copenhagen researchers have been studying the cause of Huntington’s disease in order to potentially develop a treatment. They have determined that failure of glial cell maturation is a…
Two children from a Brooklyn family were born with an ultra rare genetic disease called Canavan disease. Their parents' research revealed that gene therapy could possibly treat the disease. Unfortunately,…
A new neuromuscular research center has opened at the Ottawa Hospital. The new center will allow patients living with neuromuscular conditions, such as muscular dystrophy and ALS, to be a…
Scientists have discovered a link between the causes of rheumatoid arthritis and Huntington's disease through Epigenetics. Rheumatoid arthritis is an autoimmune disease that causes pain and swelling in the joints. …
A gene therapy treatment is being used to treat X-linked severe combined immunodeficiency (X-SCID). Mustang Bio has licensed the treatment from St. Jude Children's Research Hospital. X-SCID is also known…
Orkambi, a medication used to treat cystic fibrosis (CF), has improved the lives of some CF patients since approval last year. CF causes thick mucus that leads to difficulty breathing. …
Scientists are researching the possibility of fetal gene therapies as possible cures for rare diseases, such as Duchenne muscular dystrophy, hemophilia, sickle cell disease, and Gaucher's disease. With fetal gene…
A Missouri girl was diagnosed with Addison's disease after being first diagnosed with anorexia. Eventually she ended up in the hospital with headaches, vomiting and stroke-like symptoms. Addison's disease is…
We recently read an article in Health News and Information that connected two conditions we weren't expecting to read about together. Scientists have discovered a potential link between rheumatoid arthritis.…
Patients living with PKU (phenylketonuria) have hope as researchers look into new drugs that may help the body break down phenylalanine. PKU is an genetic disease in which the body lacks…
A California family has lost 12 family members to the newly discovered rare disease known as hereditary sensory and autonomic neuropathy type 1E (HSAN 1E), which involves a mutation on…
Cushing's syndrome may be due to adrenocortical carcinoma, a tumor of the adrenal gland. This rare tumor can cause increased hormone levels in patients that are commonly associated with Cushing's…
A clinical trial is ongoing to test if stem cells harvested from bone marrow and injected into an ALS (amyotrophic lateral sclerosis) patient's spinal fluid will stop or slow the…
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