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Genetic Disease

All articles tagged with #genetic disease

health-medicine1 year ago

"Breakthrough Treatment Offers Hope for Neuroferritinopathy Patients"

Neuroferritinopathy, a rare genetic brain condition causing a build-up of iron, has trapped four sisters in their bodies, leaving them unable to communicate or move. A drugs trial at Cambridge University aims to repurpose an existing drug to draw out the iron and potentially halt, reverse, or even "cure" the disease. If successful, the trial could offer hope for patients with this condition and pave the way for treating other conditions linked to iron build-up in the brain.

via BBC|
#drugs-trial#genetic-disease#health-medicine
health2 years ago

Baby Boy's Remarkable Recovery from Rare Genetic Disease Sets Medical Milestone

A 1-year-old baby from California has become a solitary case of recovery from Mitchell Syndrome, one of the rarest genetic diseases known to medicine. After experiencing deteriorating health, the baby's parents advocated for further genetic testing, which revealed a genetic mutation causing the neurological illness. The family discovered that vitamin B2 had a positive effect on ameliorating the disease's symptoms through the Mitchell and Friends Foundation. The baby has shown improvements in movement and communication, defying expectations. While the future remains uncertain, the family remains hopeful and determined to support the baby's progress.

via Good News Network|
#genetic-disease#health#mitchell-syndrome
health2 years ago

"Unbreakable Bond: Pennsylvania Mother and Son Overcome Rare Genetic Disease Together"

A Pennsylvania mother and her one-year-old son both have Neurofibromatosis Type 1 (NF), a rare genetic disease that causes tumors to form throughout the body. Despite having the same condition, they are impacted differently. The mother, Lindsey Marson, has undergone multiple surgeries and wears a brace due to the effects of NF, while her son, Bryson, has had a large tumor behind his eye, in his face, and part of his brain. They share a strong bond and Marson advocates for NF awareness through a Facebook page.

via Yahoo Life|
#genetic-disease#health#mother-and-son
health2 years ago

"Unbreakable Bond: Pennsylvania Mother and Son Overcome Rare Genetic Disease Together"

A Pennsylvania mother and her one-year-old son both have Neurofibromatosis Type 1 (NF), a rare genetic disease that causes tumors to form throughout the body. Despite having the same condition, they experience different symptoms. The mother, Lindsey Marson, underwent multiple surgeries and wore a leg brace due to the effects of NF, while her son, Bryson, has a large tumor behind his eye, in his face, and part of his brain. Although it has been challenging, Marson's own diagnosis has given her a deeper understanding and strengthened the bond between her and her son. She has started a Facebook page to raise awareness about NF and support others facing the condition.

via Fox News|
#genetic-disease#health#mother-and-son
health2 years ago

Advancements in Prenatal Screening Lead to Earlier Surgery for Babies with Congenital Heart Defects

A new study from Epic Research reveals that the life expectancy of cystic fibrosis (CF) patients has significantly increased over the past decade. In 2008, the average life expectancy for CF patients was 26 years, but as of 2022, it has risen to 66 years, just 12% lower than the non-CF population. The study attributes this improvement to advancements in CF treatment, including better diagnoses, therapies, and comprehensive care programs. Early diagnosis through advanced testing and new therapeutic options have contributed to the increase in life expectancy. With continued genetic advances and comprehensive care, the life expectancy for CF patients is expected to rise further.

via Fox News|
#comprehensive-care#cystic-fibrosis#genetic-disease
animal-health2 years ago

Rare Genetic Disease Diagnosed in Sumatran Orangutan at Indianapolis Zoo

Researchers from Indiana University School of Medicine have diagnosed a Sumatran orangutan at the Indianapolis Zoo with a rare genetic disease called Alkaptonuria, marking the first molecular confirmation of the disease in a primate other than humans. The six-year-old orangutan, named Mila, had a history of dark urine that turned brown upon standing since birth. Alkaptonuria is a rare autosomal recessive disorder caused by a deficiency of the enzyme homogentisate 1,2-dioxygenase. While it is unclear how the disease will impact Mila over time, having a diagnosis allows veterinarians to focus on her specific condition and avoid unnecessary procedures. Regular monitoring and preventive health exams will be conducted to detect any secondary pathologies that may arise.

via News-Medical.Net|
#alkaptonuria#animal-health#diagnosis
health2 years ago

Fruit flies offer hope for rare genetic disease treatment.

The SynGAP Research Fund has awarded the University of Utah's Department of Human Genetics a $65,000 grant to run drug screens to determine whether any existing FDA-approved drugs have a positive impact when it comes to treating SynGAP-1, a rare genetic disease. The department is using fruit flies to screen drugs that could be used to treat patients with SynGAP-1. The amount of SynGAP-1 in fruit flies can be determined by looking at the shape and color of the fly's eye. The speed and accuracy with which the department is able to determine the efficacy of certain drugs is paramount.

via KSL.com|
#drug-screening#fruit-flies#genetic-disease
science2 years ago

Uncovering Beethoven's Health and Family Secrets through DNA Analysis.

Researchers have extracted DNA from strands of Ludwig van Beethoven's hair to investigate the health problems and hearing loss that plagued him. They found a genetic risk for liver disease, plus a liver-damaging hepatitis B infection in the last months of his life, which, along with his chronic drinking, were probably enough to cause the liver failure that is widely believed to have killed him. The study also revealed a discrepancy in the Y chromosomes of living members of the extended Beethoven family, suggesting an extramarital relationship in the composer's family tree. However, the key question of what caused Beethoven's hearing loss remains unanswered.

via KSL.com|
#beethoven#dna#genetic-disease
science2 years ago

"Beethoven's DNA reveals family secrets and medical mysteries"

Researchers have extracted DNA from strands of Beethoven's hair to study his health problems and hearing loss. They found a genetic risk for liver disease, a liver-damaging hepatitis B infection, and chronic drinking, which were probably enough to cause the liver failure that killed him. The study also revealed a discrepancy in the Y chromosomes of living members of the extended Beethoven family, suggesting an extramarital relationship in the composer's family tree. However, the mystery of what caused Beethoven's hearing loss remains unsolved.

via NBC News|
#beethoven#dna#genetic-disease