His daughter has a very rare genetic disorder and her fight for treatment reaches an important stage

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California lobbyists Joe Lang He wakes up early every morning, examines his email and begins what he calls his second job: to help coordinate a national medical program for an extremely rare genetic disorder that affects his daughter.

This is not the type of task he has imagined for himself through his long career in Sacramento, and yet he is a driving force to find treatment for a disorder of neurological development that bears the name of his daughter, Jordan. He helped to collect the research team when his family learned that Jordan was just one of the few girls diagnosed with the syndrome, and since then he has been raising money to work.

“If someone says,” We want to help their son, “as a father will say,” Well, what should I do? “He said.

This father’s work reached an important stage this month when Japanese pharmaceuticals Shionogi He announced that a clinical trial begins to treat Jordan’s syndrome, a condition characterized by developmental delay and various symptoms that make it difficult or impossible for people to take care of themselves.

Jordan, who was 10 when the disease was diagnosed, is now 19 years old.

The company thanks Lang and the Foundation of his family, Jordan’s Guardian AngelsWhen he announced the essay. “Shionogi feels an honor to partner with Jordan’s Guardian Angels in this historic study while we work together to progress in our shared commitment to help patients and families affected by Jordan Syndrome,” said the company Juan Carlos Medical Director Gomes

California also played an important role in this advance: in state budgets As of 2018 and 2021, a total of $ 33 million has allocated a total of $ 33 million to finance the first investigations from Jordan’s syndrome, money that allow doctors from 10 universities and hospitals to cooperate in their work instead of competing with each other for federal subsidies S

This investment is expected to reduce the cost of the treatment user, Lang said if the medicine receives the approval of the Food and Medicines Administration.

It is unusual for California’s legislation to finance the investigation into a specific rare disease, although it has allocated money to build Institute of Mind in UC Davisthat examines development disorders and Funded Breast Cancer Research With a cigarette tax in 1993

Former Senator Richard Pan, a Democrat from Sacramento, who helped secure the state funding for Jordan’s syndrome, said legislators feel convinced of investing money in the investigation because of their potential to shed light on other genetic disorders.

“This has always been the challenge when it comes to diseases that only affect a handful of children,” says Pan, a pediatrician. “Understanding what is happening to these children, he also understands what is happening with a greater group.”

For example, people who are diagnosed with Jordan’s syndrome tend to share some symptoms that resemble autism or Parkinson’s disease. In order to better understand the specific malfunction of the genes that cause Jordan’s syndrome, it can help researchers understand these conditions better.

“Although it is a rare disease, it has many consequences for cancer and Parkinson’s,” says Jan Nolta, director of the UC Davis stem cell program. His team is one of those who contribute to the studies of Jordan’s syndrome.

“What we find, there are consequences for bigger things,” he said.

Lang has been working in Capitol since the 70s of the last century and his company, Hansen, Giru and KidaninIt is regularly lobed up among lobbying organizations with a more large billing in Sacramento.

He and his wife Cynthia spent years trying to understand the cause of their daughter’s development, but couldn’t make a diagnosis. As a last resort, a doctor recommended that you map the genes of Jordan, which led to the detection of a mutation in a gene called PPP2R5D.

At that time, this disease was diagnosed with only six children. Now the figure is about 350.

Since then, Lang has been involved in efforts to find treatment and cure.

“I am a father who is thrown into the pool,” he said. “It is very useful, but sometimes I have to be very diligent: this is our next job, let’s do this, let’s do it.”

The research team began its work by modeling the defective gene that causes the disease and studying how it works. Then doctors began to analyze tens of thousands of existing medicines to see if anyone can help treat the disease.

This led them to a medicine called Convexwhich is evaluated as a treatment of a disease that causes hereditary intellectual damage. Medicine was created by a company that was later acquired by Shionogi. Mice tests show that they can help people with Jordan’s syndrome.

In the next clinical trial, people with Jordan’s syndrome will take a dose of medicine twice a day for six months. Doctors will check that the drug improves their cognitive abilities.

Lang hopes to listen to Jordan.

“If, in the end, with this treatment, we will make Jordan talk, it will be a big change,” he said. “Once we can talk, many other things will appear.”

The wider research team continues to examine other potential treatments as well as a cure.

Pan, the former state legislator, warned that the essay might not demonstrate that treatment would work.

But he said, “This shows that our investment pays fruit. There is no guarantee that when we invest in research, there are positive results and we have not yet reached this moment, but the promise is good and I really appreciate Joe Lang’s leadership and passion. This leadership will help many children, much more than people believe. ”

This article was originally published by CalmattersS