VIS 2022 talks are online

With the holidays just about here, I’m sure there’s nothing you’d rather do more than listen to hours of visualization research talks from VIS 2022. Lucky for you: all the talks are online.

Just sit back, relax, and let the knowledge wash over you.

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APHL Celebrates 2022 Newborn Screening Award Winners

The six APHL Newborn Screening Award winners pose with their awards.

For Immediate Release

Tacoma, WA, October 19, 2022 – At the Association of Public Health Laboratories (APHL) 2022 Newborn Screening Symposium, APHL presented awards to six leaders in the field of newborn screening.

“Through their work, all recipients have directly improved the quality of life of newborns and their families,” said Scott J. Becker, MS, chief executive officer, APHL. “We commend the exceptional and innovative work of all those who were nominated.”

The following awards were presented in a ceremony during the Symposium today in Tacoma, WA:

The George Cunningham Visionary Award in Newborn Screening is given to someone who has made the greatest contribution to expanding or improving the screening of newborns by public health agencies in one or more states. This year’s award recipient is:

  • Sylvia Mann, MS, CGC, genomics section chief, Children with Special Health Needs Branch, Hawaii Department of Health

The Judi Tuerck Newborn Screening Follow-up and Education Award honors someone who has made significant and outstanding contributions in one or more of the following areas: enhancing the caliber of the newborn screening system; improving follow-up and education; developing creative short term follow-up strategies that significantly reduce the time to diagnosis and treatment of affected infants; developing or enhancing long term follow-up strategies; establishing novel approaches or methods for managing the integration of new technologies in newborn screening; translating novel approaches or methods into best practices or guidelines for follow-up and education; providing innovative newborn screening follow-up training/education for best practices; or improving practices to ensure timely detection, reporting, intervention and treatment for newborns detected with disorders/conditions. This year’s award recipient is:

  • Natasha F. Bonhomme, founder, Expecting Health; chief strategy officer, Genetic Alliance

The Everyday Life Saver Award in Newborn Screening highlights the meaningful, ongoing ways the recipient contributes to the morale of their team and/or operations of their program on a daily basis. This year’s recipient is:

  • Mei W. Baker, MD, director, Newborn Screening Laboratory, Wisconsin State Laboratory of Hygiene

The Harry Hannon Laboratory Improvement Award in Newborn Screening award honors someone who has made significant contributions in one or more of the following areas: assuring the quality of testing, enhancing the specificity of tests, establishing new creative laboratory approaches and technologies, providing laboratory training/education for new technologies and tests, or improving the detection of newborn disorders/conditions. This year’s recipient is:

  • Andreas Rohrwasser, PhD, MBA, director, Utah Public Health Laboratory

The Clinician Champion Award honors someone involved in patient care and who has made significant contributions in one or more of the following areas: ensuring newborns receive adequate screening and appropriate follow-up; assuring timely and effective communication of screening results to patients and families; and contributing to efforts to strengthen the impact of the public health newborn screening system by being directly involved in follow-up care, community affairs, newborn screening advocacy and/or community activities.

  • Susan A. Berry, MD, professor, Division of Genetics and Metabolism, Department of Pediatrics, University of Minnesota

The Achievements in Public Health Informatics Award honors a person working in any aspect of newborn screening worldwide and has made significant contributions in one or more of the following areas: enhancing implementation practices for electronic messaging; developing strategies for achieving effective data management; improving laboratory capability for health information data exchange; or providing new and creative approaches to communicate findings through data visualization.

  • Brendan Reilly, program specialist VI / health informaticist III, Biochemistry and Genetics Branch, Laboratory Services Section, Texas Department of State Health Services

“We congratulate all award winners and thank them for their contributions to advancing the essential work of newborn screening,” Becker said.

Learn more about the APHL Newborn Screening Symposium.

# # #

The Association of Public Health Laboratories (APHL) works to strengthen laboratory systems serving the public’s health in the U.S. and globally. APHL’s member laboratories protect the public’s health by monitoring and detecting infectious and foodborne diseases, environmental contaminants, terrorist agents, genetic disorders in newborns and other diverse health threats. Learn more at www.aphl.org.

Contact Michelle Forman at 240-485-2793 or michelle.forman@aphl.org

The post APHL Celebrates 2022 Newborn Screening Award Winners appeared first on APHL Blog.

Importance of newborn screening for early detection and treatment emphasized by patients and families

Three panelists share their stories during the APHL 2022 Newborn Screening Symposium.

By Melanie Padgett Powers, writer

At six weeks old in the early 1970s, Kendra Hogenson was adopted. But her new parents quickly realized that instead of cooing and wiggling around, all their baby did was cry and beat her head against the wall. They had no idea what was wrong with their daughter and took her from doctor to doctor seeking help.

As Hogenson, now age 51, told her story as part of the Parent/Patient Panel during the APHL 2022 Newborn Screening Symposium in October, she began to cry. “One doctor even said, ‘put her away in an institution; she’ll never amount to anything,’” she recalled. But Hogenson’s mom said, “I know she’s in there.”

Finally, a pediatrician suspected sickle cell anemia and had the baby tested. The results were positive. Sickle cell anemia is part of a group of inherited disorders known as sickle cell disease (SCD). People with SCD have abnormal hemoglobin in their red blood cells that causes the cells to become hard and sticky and die early, according to the Centers for Disease Control and Prevention. The red blood cells can also get stuck in small blood vessels, causing severe pain and other serious health problems.

Routine newborn screening in the US will celebrate its 60th anniversary next year, and as of 2011 all 50 US states were screening for at least 26 disorders. Through a simple heel prick in the hospital when a baby is one to two days old, newborn screening tests an infant for rare but serious disorders that can be treatable.

If Hogenson, born in Washington, had received newborn screening when she was born, SCD would not have been included in the panel. New York was the first state to screen for the disease beginning in 1975. It wasn’t until 2006 that universal newborn screening for SCD was in place in all 50 states, Puerto Rico and the US Virgin Islands.

As a child, Hogenson was in and out of Seattle Children’s Hospital, which she referred to as her “second home.” She’s had meningitis three times which caused brain damage; strokes that led to learning disabilities; more than 20 surgeries; and 32 years of routine exchange blood transfusions, which she credits with saving her life.

Despite her challenges, Hogenson said she “exceeded all their expectations.” She graduated high school even though it was difficult: “Me and math still don’t get along.” She drives and has held a full-time job. “I wasn’t supposed to live this long; here’s to proving them wrong,” she said.

She thanked Symposium attendees for now screening every infant for SCD, “so their families don’t have to go what mine went through to find out what was wrong.”

Hogenson and fellow panelist Denise Bazemore, a 63-year-old woman who also has SCD, will soon be living in a new “sickle cell house” in Seattle called the “HUB,” which was developed by the Metro Seattle Sickle Cell Task Force, a grassroots organization.

HUB, which stands for healing, use and belonging, will offer people with SCD massage, yoga, acupuncture, reflexology and other therapies. It will offer educational and occupational workshops and offer a safe place for those with SCD to connect and support each other.

Improving newborn screening education

Susan Mays and daughter, Indie, share their story at the APHL 2022 Newborn Screening Symposium.
Susan Mays and daughter, Indie, share their story at the APHL 2022 Newborn Screening Symposium.

Also speaking on the panel were Susan Mays and her daughter, Indie, age 9. Thanks to the newborn screening program, Indie was diagnosed with maple syrup urine disease (MSUD) a few weeks after she was born. MSUD is a condition in which the body cannot process certain amino acids, requiring a strict low-protein diet.

Susan Mays said she didn’t really know what newborn screening was until her baby’s second-week follow-up appointment with her pediatrician, when she was told her daughter needed a second screening test.

“It makes me cringe to think about it now, but at the time I questioned why a second test was necessary, simply being clueless as to its importance,” she said. Indie wasn’t showing symptoms of MSUD, making the second test all that more important because that’s what led to her diagnosis. She had a confirmatory test a few days later.

Now Indie is a happy little girl who loves soccer, French fries and reading. She’s limited to 12-15 grams of protein a day and drinks four to five servings a day of medical formula.

While Mays said the process of getting tested and notified was “textbook,” she pointed out that she doesn’t remember being told about newborn screening during her pregnancy. She didn’t understand what it was for, causing her to push back a bit on that second test.

Mays said there’s an opportunity to explain what newborn screening is “far earlier than when the mom is pregnant,” perhaps even teaching about it as part of high school sex education classes. And it should certainly be emphasized in birthing classes and by pregnant women’s health care providers, she said.

It’s also important for families like hers to continue to share their stories about how newborn screening saved their babies’ lives and led to earlier treatment, she said. “I think all of us who have been impacted have a responsibility and an opportunity to help educate, starting with your friends, your family, using social media. I don’t think it relies on any one person or any part of the puzzle. Certainly, there’s a big opportunity for an understanding of why it’s done and why it’s important.”

The presentation concluded with a powerful video of other families sharing how newborn screening saved their babies’ lives. Afterward, attendees and panelists, and other families affected by newborn screening, gathered for a mixer in the exhibit hall.

Melanie Padgett Powers is a freelance writer and editor specializing in health care and public health.

APHL 2022 Newborn Screening Symposium was held in Tacoma, Washington, and online October 16-20, 2022. 

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Announcing ProbGen22 in Oxford 28-30 March

The organizing committee is pleased to announce the 7th Probabilistic Modeling in Genomics Conference (ProbGen22) to be held at the Blavatnik School of Government and Somerville College Oxford from 28th-30th March 2022.

The meeting will be a hybrid in-person and online event. Talk sessions will feature live speakers, both in-person and online, and will take place during the afternoons (making live attendance feasible for US timezones). Talks will be recorded and made available to registrants for a period of one month. Poster sessions will be held online during the evenings.

The conference will cover probabilistic models, algorithms, and statistical methods across a broad range of applications in genetics and genomics. We invite abstract submissions on a range of topics including population genetics, natural selection, Quantitative genetics, Methods for GWAS, Applications to cancer and other diseases, Causal inference in genetic studies, Functional genomics, Assembly and variant identification, Phylogenetics, Single cell 'omics, Deep learning in genomics and Pathogen genomics.

The registration deadline is 28th February 2022.

For more details visit the conference website. 

alt.VIS

The IEEE VIS 2021 conference is running virtually this week, and there’s a lot of work that’s caught my eye but I haven’t had the chance to look through it all yet. One of those things is the alt.VIS workshop that lead into the conference. The papers included such topics as Towards a Theory of Bullshit Visualization, Visualization for Villainy, and Manifesto for Putting Chartjunk in the Trash 2021!.

I’m giving this a hard bookmark to read later.

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Gordon Research Conference on Craniofacial Morphogenesis and Tissue Regeneration (February 11 – 16, 2018): Licia Selleri & Ophir Klein

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Travel, science, and making friends: why you should go to a small conference

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Hello, Providence! APHL Annual Meeting — Day 1

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We had an exciting first day of the 2017 APHL Annual Meeting in Providence! The meeting kicked-off with a warm welcome from Dr. Ewa King, director of the Rhode Island State Health Laboratories, and Dr. Nicole Alexander-Scott, director of the Rhode Island Department of Health. For more updates from the meeting, follow #APHL on Twitter and Instagram.

The post Hello, Providence! APHL Annual Meeting — Day 1 appeared first on APHL Lab Blog.

Slice of PLOS: Psychedelics in the Lab and Clinic: Making Up for Lost Time

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