Susan Berry

FDA OKs Nitisinone for Ultra-Rare Black Urine Disease The drug was approved for the reduction of urine homogentisic acid in adults with alkaptonuria

Good news for folks living with alkaptonuria:
FDA OKs Nitisinone for Ultra-Rare Black Urine Disease www.medpagetoday.com/primarycare/...

In its flagship journal, the CDC keeps publishing papers after firing scientists who made the research possible In its flagship journal, the CDC keeps publishing papers after firing scientists who made the research possible.

We need the CDC at full power to protect our children (and us!)

In its flagship journal, the CDC keeps publishing papers after firing scientists who made the research possible www.statnews.com/2025/05/23/c... via @statnews.com

New test approved for newborns in Minnesota Minnesota newborns will soon be screened for a disease that can lead to delay in developmental milestones, regression of skills, seizures and in some cases death.

New test approved for newborns in Minnesota www.twincities.com/2025/05/10/m...

Headline says "What I learned in China: Obedience Gets You Nowhere."

Important op-ed essay in @nytimes.com by @yaqiu.bsky.social .

Headline conveys the point, but worth reading the whole thing.

(Point is also known as the Paul, Weiss principle; the appeasement principle; the Senate GOP principle; etc.)

www.nytimes.com/2025/05/08/o...

Measles math: What to know about 1,001 measles cases across the country The U.S. Centers for Disease Control and Prevention updated the numbers of measles cases in the country on Friday. Here's what they say and what it means for public health in the U.S.

The CDC updated the numbers of measles cases in the country on Friday. Here's what they say and what it means for public health in the U.S.

Sunrise

HHS Scraps Advisory Committee on Newborn Screening Cut comes as new conditions could have been added to a national screening panel

"This is an absolutely essential committee for the life of America's babies." -- @sab730.bsky.social, of the University of Minnesota, after an advisory committee on newborn screening was terminated.
www.medpagetoday.com/special-repo...

The volunteer committee advising on newborn screening must be reinstated Cutting the federal newborn screening advisory committee either demonstrates a lack of understanding of the group’s function or represents a worrisome policy shift.

Outstanding comments from a true advocate!!!

The volunteer committee advising on newborn screening must be reinstated www.statnews.com/2025/04/24/a... via @statnews.com

The Trump Administration Just Made A Devastating Move That Will Destroy Countless Lives — HuffPost “If we fail to demand accountability, we risk losing not only progress, but a piece of our collective soul.”

apple.news/A5xL0pjNCTti...

Excited to attend the 2025 MpS Newborn Screening meeting here in the University of Minnesota Alumni Center

Opinion | Science Won't Save Itself — We Have to Make It Personal What will it take to convince those who don't spend their lives in hospitals or labs?

Science Won't Save Itself — We Have to Make It Personal www.medpagetoday.com/opinion/seco...

www.medpagetoday.com/genetics

In our new podcast: Dr Marshall Summar, M.D. joins the podcast to explain why common polymorphisms and basic physiology mean that L-citrulline may have a role in sickle cell disease, bronchopulmonary dysplasia and even asthma.

Listen on Spotify: open.spotify.com/episode/1wtt...

Safeguarding the future of biomedical science in the United States NIH’s abrupt decision to cap indirect cost reimbursement at 15% threatens the critical infrastructure supporting groundbreaking biomedical research in the United States. This policy jeopardizes Americ...

Safeguarding the future of biomedical science in the United States: Cell www.cell.com/cell/fulltex...

How Trump’s Medical Research Cuts Would Hit Colleges and Hospitals in Every State (Gift Article) Changes to a key funding formula will reduce research grants at hospitals and universities by billions — and may discourage future research.

LOOK AT THIS...
Explore this gift article from The New York Times. You can read it for free without a subscription. www.nytimes.com/interactive/...

Which Federal Programs Are Under Scrutiny? The Budget Office Named 2,600 of Them. (Gift Article) The Trump administration ordered temporary freezes in funding for programs spanning virtually every part of the government. Here’s the full list.

Programs at risk:
www.nytimes.com/interactive/...

What are urea cycle disorders? Patients with these rare genetic disorders can't metabolize protein properly. If patients are left untreated, toxic ammonia can build up and cause coma, brain damage, death, and long-term disability. Learn more about #UCDs: nucdf.org/about-ucd/wh...

An ammonia test can save a life. Here are the key procedures to follow for an accurate result:

checkammonia.com

#UCDs #CheckAmmonia #hyperammonemia #IEMs #raredisease