Stories about: precision medicine

If I knew then what I know now: The need for infrastructure to enable precision medicine

precision medicine - closing the infrastructure loop
For precision medicine to happen, we need to be able to close the loop when genetic discoveries are made.

Catherine Brownstein, MPH, PhD, is scientific director of The Manton Center for Orphan Disease Research at Boston Children’s Hospital. Kelsey Graber, MSc, is a research assistant in the Developmental Neuropsychiatry Program. Joseph Gonzalez-Heydrich, MD, is director of the Developmental Neuropsychiatry Program at Boston Children’s Hospital.

Research implicating rare genetic variants in medical and psychiatric diseases is quickly accumulating. This expanding knowledge should be taken into account when making treatment decisions for patients carrying these variants — as well as other family members — even when that knowledge comes after the patient is tested. But all too often, medical institutions are unable to go back and update the information given to families. We need a better infrastructure to enable precision medicine.

This problem recently surfaced in our psychiatry practice. It came to our attention because of a young boy with mild coordination delays and learning disabilities. At age 6, he started experiencing daily hallucinations such as voices telling him to kill his classmates.

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From mice to humans: Genetic syndromes may be key to finding autism treatment

Boy and a mouse eye-to-eye
(Aliaksei Lasevich/stock.adobe.com)

A beautiful, happy little girl, Emma is the apple of her parents’ eyes and adored by her older sister. The only aspect of her day that is different from any other 6-month-old’s is the medicine she receives twice a day as part of a clinical trial for tuberous sclerosis complex (TSC).

Emma’s mother was just 20 weeks pregnant when she first heard the words “tuberous sclerosis,” a rare genetic condition that causes tumors to grow in various organs of the body. Prenatal imaging showed multiple benign tumors in Emma’s heart.

Emma displays no symptoms of her disease, except for random “spikes” on her electroencephalogram (EEG) picked up by her doctors at Boston Children’s Hospital. The medication she is receiving is part of the Preventing Epilepsy Using Vigabatrin in Infants with TSC (PREVeNT) trial. Her mother desperately hopes it is the active antiepileptic drug, vigabatrin, rather than placebo.

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Building precision medicine: Power to the patients

Tools to build precision medicinePrecision medicine involves the development and application of targeted therapeutics based on patients’ genomes, lifestyles and environments. The recent conference on precision medicine at Harvard Medical School highlighted a few challenges in scaling up this process.

To help further precision medicine, the Obama administration and NIH launched the All of Us program, registrations for which are slated to start later this year. Its aim is to collect health data from one million Americans.

But the conference also highlighted several tools that patients can use proactively to collect, share and analyze their own data and use it to improve their own health — and contribute to precision medicine as citizen scientists.

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Three challenges precision medicine faces before it can scale up

Different aspects of precision medicine therapyDoctors, scientists, consumers, entrepreneurs and others came together recently for the Precision Medicine 2017 symposium at Harvard Medical School, now in its third year. This year’s theme was “breakaway business models.” What are challenges in developing targeted treatments based on clinical and genetic data, and how do we overcome them?

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An unclassified tumor — with a precisely targeted therapy

Jesus (who received targeted therapy for his tumor) pictured with his father
Jesus and his father, Nathaneal

Early last year, at his home in San Juan, Puerto Rico, Jesus Apolinaris Cruz’s leg hurt so much he could barely sleep. “All day,” the 13-year-old recalls. “It was constant pain.” His parents took him to two local pediatricians, who examined him, drew blood, tested his platelets. No diagnosis. Finally, in April 2016, a physician ordered an MRI. No wonder Jesus’s leg hurt. He had a large, cancerous tumor lodged in his hip.

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Webchat to highlight what’s new in pediatric brain tumors

pediatric brain tumors, child MRI

Last September, the National Center for Health Statistics reported that brain tumors have overtaken the much more common leukemia as the leading cause of death from pediatric cancer. Although progress has been made and the promise of more progress is on the horizon, the cure rate for childhood brain tumors lags behind a number of other pediatric cancers.

As pediatric neuro-oncologist Peter Manley, MD, of Dana-Farber/Boston Children’s Cancer and Blood Disorders Center told Live Science, new research on cancer genomics “is so impressive that my feeling is that we will continue to see a decline in deaths.”

To mark Brain Tumor Awareness Month, Mark Kieran, MD, PhD, clinical director of the Brain Tumor Center at Dana-Farber/Boston Children’s, will host a webchat on Monday, May 22 (3:30 p.m. ET). The live chat will highlight the latest research and treatments for pediatric brain tumors. Here’s a look back at some recent developments:

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GALLERY: Forecasting the future of pediatric hematology/oncology

Title image for pediatric hematology/oncology predictionsRecently, the annual ASPHO (American Society for Pediatric Hematology/Oncology) meeting brought together more than 1,100 pediatric hematologists and oncologists, including a team from the Dana-Farber/Boston Children’s Cancers and Blood Disorders Center. Some of the delegates from Dana-Farber/Boston Children’s included:

Based on their discussions with their peers, these are their key takeaways from the meeting:

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New dataset reveals the individuality of childhood cancers

Tumor cells, like the ones pictured here, have unique genetic profiles across childhood cancers
Imaging of tumor cells. A new dataset, one of the largest of its kind, contains the genomic profiles of 1,215 pediatric tumors.

Childhood cancers are rare and account for about one percent of U.S. cancer diagnoses. They differ from adult tumors in that they often arise from many more diverse kinds of cells, including embryonal tissues, sex-cord stromal cells of the ovary or testis, the brain’s neural and glial cells and more.

Yet although improved tumor detection and treatment have increased survival rates for many different cancer subtypes, more than 1,900 children across the U.S. still lose their battle each year.

A new dataset — comprising the genomic profiles of a huge array of pediatric tumors — could help change that.

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Pediatric brain tumor genomics arrives, as the need for new therapies grows

Allison was the first pediatric brain tumor patient in the world to receive a treatment targeting the BRAF mutation, originally developed to treat adults with melanoma who have the same mutation.

Precision cancer medicine – the vision of tailoring diagnosis and treatments to a tumor’s genetic susceptibilities – is now ready to impact the care of a majority of children with brain tumors. The molecular “signatures” of brain tumors were first characterized in 2002 in a study led by researchers at Boston Children’s Hospital. This has led to the creation of new tumor subgroups and changes in cancer treatment: For example, a current clinical trial is testing the anti-melanoma drug dabrafenib in a variety of brain tumors with the same BRAF mutation – including metastatic anaplastic astrocytoma and low-grade glioma.

In the largest study of its kind to date, investigators at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center genetically tested more than 200 brain tumor samples. They found that many had genetic irregularities that could guide treatment, in some cases with approved drugs or agents being evaluated in clinical trials.

The findings, reported online today by the journal Neuro-Oncology, also demonstrate that testing pediatric brain tumor tissue for genetic abnormalities is clinically feasible.

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2017 predictions for biomedicine

2017 predictions for biomedicine

David Williams, MD, is Boston Children’s Hospital’s newly appointed Chief Scientific Officer. He is also president of the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center and director of Clinical and Translational Research at Boston Children’s. Vector connected with him to get his forecast on where biomedical research and therapeutic development will go in the year ahead.

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