#Genetic Disease

British soldier walking barefoot 1,200 miles from Maine to North Carolina to raise money for research into daughter’s rare genetic disease

The baby’s seizures began the night her parents brought her home from the hospital. “I cannot explain to you how frightening and terrifying it is to see your child in pain, mouth open, trying to scream but not even being able to produce a noise,” said Chris Brannigan, the girl’s father and a major in the British Army.
Picture for British soldier walking barefoot 1,200 miles from Maine to North Carolina to raise money for research into daughter’s rare genetic disease
Ahwatukee Foothills News

A couple’s anguish: 2 tots face incurable disease

In mid-August of 2020, Dave and Kendra Riley, their three daughters ages 5 and under, and her parents arrived in Milan, Italy. The Ahwatukee couple were trying to save the life of their youngest, Kiera, age 6 months after she had miraculously been accepted to join a gene therapy treatment that wasn’t available in the U.S.

Mum’s agony as daughter, one, diagnosed with rare condition that will gradually turn her baby girl into stone

A MUM has spoken of her heartbreak after her one-year-old daughter was diagnosed with a rare condition that will gradually turn her body to ‘stone’. Lexi Robins from Hertfordshire was diagnosed with Fibrodysplasia Ossificans Progressiva (FOP), which is thought to affect just one in two million people. The ultra-rare genetic...
New York Post

This vet went on a 1,200 mile march for daughter’s genetic condition

He’s on a ruck to raise research bucks. An Afghanistan War vet has embarked upon a 1,200-mile charity march to support research into his daughter’s rare genetic disease. On Saturday, day 25 of his trek, Chris Brannigan, 41, of England, passed through New York City — barefoot — on his hike from Bar Harbor, Maine to Marine Corps Base Camp Lejeune in North Carolina.
Shelby Star

Casar Elementary student finds support from classmates

Loren Unger is a proud mom who, like many parents, keeps careful watch over her child but one day she noticed several bruises on her daughter, Rylee Talbot. At first, Unger thought her child was suffering from an iron deficiency, something a few oranges and vitamins could fix over time.

Large-scale genetic repeat variations contribute to height and other human traits

New study finds that a type of genetic modification involving long, repeated sequences within the human genome can affect a variety of health-related traits. Over the last decade, geneticists studying how variations in DNA sequence between individuals can influence disease risk and other traits have largely focused on one type of variation: single-letter changes. Now a new study reveals how larger genetic modifications also significantly contribute to human traits.

Family fights for masks to protect immunocompromised children

CENTERVIEW, MO (KCTV) – While school districts in Missouri are at liberty to make their own decisions when it comes to masks, one local family is pushing for added protection. The Graczyk family has 6 children, two with a genetic disease that could easily make a Covid-19 diagnosis deadly. Their...
MedCity News

Aiming for better genetic medicines delivery, startup GenEdit grabs $26M

Adeno-associated virus is a workhorse of genetic medicine, serving as the delivery vehicle for a slew of approved and experimental therapies. But adverse effects are a known risk of AAV; injuries and even patient deaths in clinical trials have sparked several clinical holds in the past year. GenEdit aims to avoid those problems by pursuing a different delivery approach altogether.

Study reports an often overlooked cause of genetic disease

Splicing defects, which are frequently overlooked because they do not affect amino acid production, can play a significant role in rare genetic pituitary gland diseases. The pituitary gland plays a critical role in hormonal activity. It produces a variety of hormones that regulate the growth and function of other endocrine glands. POU1F1, also known as PIT1, is a pituitary-specific transcription factor that is required for the development of three different hormone-producing cell types: growth hormone, prolactin, and thyroid stimulating hormone. While most mutations in POU1F1 are recessive, some variants have a dominant effect. Typically, either genetic cause results in multiple hormone deficiencies.

UNC lands $24M grant to drive more genetic research for precision medicine

CHAPEL HILL – Doctors have accurate diagnostic tests for some single-gene conditions, such as sickle cell disease or cystic fibrosis. But when it comes to understanding the genetic variants underlying most rare genetic conditions, there is still much to learn. This is where the Clinical Genome Resource Consortium (ClinGen) comes in.

Kleefstra Syndrome Reversed in Mouse Model After Birth

Kleefstra syndrome is a rare genetic disease caused by a mutation or deletion in one copy of a gene called EHMT1, which encodes for a protein called GLP. In the disorder, half the normal level of GLP protein is present. The reduction in GLP disrupts its epigenetic function. Since that protein plays a crucial role in brain development, patients have intellectual disability and symptoms that have some similarity to autism. Researchers have now found a way to reverse these symptoms in a mouse model of the disease. The findings have been reported in the open access journal iScience from Cell Press.

This genetic sleuth has uncovered a new category of disease marked by sporadic fevers and inflammation

A version of this story appeared in Science, Vol 373, Issue 6562. The bizarre symptoms had tormented Sarkis Hagopian since he was a young child crawling around his Pittsburgh home. Every so often, one of his knees would balloon or an ankle would swell so much that he couldn’t put on his shoe. Fierce cramps would wrench his abdomen, leaving him unable to stand up straight. “I was pitched at a 45° angle,” recalls the now-60-year-old printing salesman.