A rare genetic condition meant a lot of uncertainty for an unborn baby. A multispecialty Stanford Medicine Children’s Health team came together to find answers.
Posts Tagged with
genetics
Genetics Team Serves as Go-to for Mom of Son With Extremely Rare Disorder
Asher Gerlach, age 6, is a special kid. Not only because he’s one of just 20–30 children in the world with an exceptionally rare genetic disease, according to medical literature, but also because he has a refreshing take on life.
Avery’s Family Finds Answers in Her Genes
A diagnosis of Coffin-Lowry syndrome and monitoring by a team of experts puts a family at ease.
Claire Dances Into a Bright Future With CF
Claire has cystic fibrosis, but new treatments that attack the disease at the genetic level are helping her live a full life.
What gene discovery means for families and physicians seeking answers to medical mysteries
Families and physicians seeking answers to the medically unknown turn to genomics experts to unlock secrets hidden in genes.
Tessa’s mystery condition gets a diagnosis
The Nye family spent years chasing a diagnosis for Tessa, who experienced hundreds of seizures a day, but doctors found no genetic cause for her disorder.
Advances in stem-cell and gene-therapy
Using stem cells and gene therapy to treat or cure disease may still sound like science fiction, but it is moving closer and closer to fact.
“Lifting the hood” on rare immune diseases can help patients get the treatment they need
When a patient has an unusual immune dysfunction, a few generalized therapies — steroid medications, for instance — are given to try to quiet the problem.
Stanford team helps patient who is “unique in the world”
In the age of genetic medicine, it’s still surprisingly difficult to diagnose rare genetic diseases, and even more complicated to identify brand-new ones. But several Stanford scientists are working on ways to change that.
Mystery solved: Researchers use genetic tools to diagnose young girl’s rare heart condition
Right after Astrea Li born, she went into cardiac arrest, not just once, but repeatedly. It was all her doctors at Lucile Packard Children’s Hospital Stanford could do just to keep her alive. Soon, a far-flung team of researchers joined together to solve the mystery of what was causing Astrea’s severe heart arrhythmia.
Automating genetic analysis could speed diagnosis of rare diseases
Stanford researchers recently published a scientific study describing how and why they’re trying to automate the diagnosis of rare genetic diseases.
Newly identified gene mutation explains why one family experiences unusual pain response to cold
If you’ve ever plunged your hand into a tub of ice water, you know about the overlap between cold and pain: That deep, biting ache makes you want to get your hand out of the water – fast. While the protective value of that sensation is obvious, scientists have always been a bit mystified by how pain-sensing nerves register cold temperatures. But now, Stanford research on a family with an extremely unusual gene mutation may help clarify what’s going on.
Stanford Medicine Children’s Health adds Fertility and Reproductive Health Services
The longstanding expertise of Stanford Medicine’s Fertility and Reproductive Health team has a new home: This month, the team moved to Lucile Packard Children’s Hospital Stanford and Stanford Medicine Children’s Health.
Q&A with Greg Enns, MD, about NGLY1 deficiency, a newly discovered genetic disease
Gregory Enns, MD, pediatric geneticist at Lucile Packard Children’s Hospital Stanford and a professor of… Read more »
Appetite for Life
Caitlin Burns was born with an immune deficiency and pseudo-obstruction of the gastrointestinal tract, a life-threatening condition that prevents the normal movement of food through her intestines. Packard specialists have been caring for her since she was an infant.
