Precision Health Symposium addresses progress and challenges

Precision Health Symposium addresses progress and challenges

The second annual Ginsburg Symposium on Precision Healthheld in May at the UCLA Luskin Conference Centerfocused on precision pediatric healthcare, which John Mazziotta, MD, PhDUCLA’s vice chancellor of health sciences, recognizes that it holds the key to the future of medicine.

It’s an important frontier, said Dr. Mazziotta, also the CEO of UCLA Health.

Precision health refers to the use of genomic testing to prevent, diagnose and treat diseases with unprecedented specificity. By analyzing an individual’s genetic code and medical biomarkers, physicians can offer tailored therapies that are often less invasive and more long-lasting than traditional treatments.

Precision medicine is being used to diagnose rare diseases and is leading to breakthroughs in oncology, cardiology, neurology, genetic and infectious diseases.

Genetic diseases have led to a revolution in our understanding of biology, with thousands of diseases now being decoded since the first positional cloning of disease genes in 1986, he said Stanley Nelson, MDDr. Allen and Charlotte Ginsburg Endowed Chairs in Translational Genomics and director of the California Center for Rare Diseases at UCLArecently named a Center of excellence by the National Organization for Rare Disorders. With these technological advances, hundreds of other genetic diseases are being identified and genomics is now being routinely applied to clinical practice.

The one-day precision medicine symposium, made possible with funding from the Ginsburgs, highlighted the latest developments and challenges in targeted gene therapies for pediatric patients.

Speakers included Katherine High, MD, who detailed her multi-year program to replace a missing gene in the retina to restore vision to children with inherited retinal dystrophy that is now in clinical use. Noah Federman, MD, director of the Pediatric Bone and Soft Tissue Sarcoma program at UCLA Health, described data from clinical trials demonstrating a new drug that targets a specific mutation in childhood fibrosarcoma (a cancer of the connective tissue between bones) that has essentially eliminated the need for chemotherapy and led to complete recovery in many patients. John Tisdale, MD, described a gene therapy to prevent pain crises in sickle cell anemia.

While there are only a few FDA-approved gene therapies, there is early approval of gene therapy for the treatment of Duchenne muscular dystrophy, one of the most common life-threatening genetic disorders, says Dr. Nelson, and a growing number of new therapies it will soon emerge for a variety of genetic diseases.

Gene therapy infusions for pediatric patients can compensate for genetic alterations by introducing new genetic material into cells, he explains Clear LajoncherePh.Ddeputy director of UCLA Institute for Precision Healthwhile genome editing allows you to modify the existing DNA within a cell.

Ethics, access, equity

The symposium also spent significant time addressing ethics, access, equity, and education issues around this emerging approach to patient care.

As revolutionary as gene therapies are, there are many unanswered questions about who gets access to genomic testing and genetic treatments, said Ellen Wright Clayton, MD, JD, a professor at Nashvilles Vanderbilt University who studies pediatric ethics and genetic testing.

Among the questions raised by Dr. Clayton:

  • Who decides which newborns can undergo genetic testing when there is no clear clinical indication or condition that requires it?
  • Who pays for such tests?
  • What are the goals when performing whole genome sequencing on newborns?
  • How often should children undergo genetic testing and at whose request?
  • What should be done in cases where the results are not actionable?
  • What about privacy concerns, especially regarding direct-to-consumer genetic testing?

He noted that genetic testing is most often available at academic medical centers, meaning it’s often out of reach for people in rural areas. And doctors don’t always know what to do with the information uncovered by genetic testing, she said.

Another speaker, Aaron Goldenberg, PhD, a professor at Case Western Reserve University School of Medicine, also discussed the ethical and legal implications of gene therapies for pediatric patients.

Only a small fraction of genetic research to date has been conducted on people of color, so the results are heavily biased in favor of people of white European ancestry, he said.

That bias leads to translational biases, said Dr. Goldenberg. It leads to limitations of ancestry testing to genetic testing where the tests may not be as meaningful to underrepresented community families. The concern is that it will also result in gene-targeted therapies that gene-targeted therapies developed on research only within certain geographic communities may not be as effective and may be less beneficial to families in underrepresented communities.

Some communities are also reluctant to participate in genetic testing due to past experiences and distrust of genetic researchers and the medical establishment, he noted. Nanibaa Garrison, PhDassociate professor at the David Geffen School of Medicine at UCLA which collaborates with the Institute for Society and Genetics and the Institute for Precision Health.

He pointed to the experiences of the Havasupai tribe, of which The DNA has been misused by Arizona State University researchers, resulting in a 2004 lawsuit and raising questions about how to ethically include marginalized populations in genetic research. Indigenous people, who make up 2.9 percent of the U.S. population, account for just 0.02 percent of the genetic research population, he said.

Dr. Garrison noted that the Navajo Nation has had a moratorium on participation in genetic research studies since 2002.

Speakers urged scientists and physicians and ultimately policy makers and insurance companies to consider ethical issues and access to genetic testing and targeted gene therapies as the science expands.

Science is the foundation, said Dr. Clayton. But for this to deliver real value to real people, we still have a lot of work to do.

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Precision Nuclear Physics in the Indium-115 Beta Decay Spectrum Using Cryogenic Detectors

Precision Nuclear Physics in the Indium-115 Beta Decay Spectrum Using Cryogenic Detectors

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(a) Example of a simulation showing the interactions within the LiInSe2 crystal detector. (b) The simulations (red) are combined with the predicted but incorrectly reconstructed event distribution (dashed blue) to extract a single In-115 spectrum (solid) from the data (black). Credit: Daniel Mayer/Alexander Leder

Some isotopes such as Indium-115 (In-115) are extremely long-lived, taking over 100 trillion years for half of the indium atoms to decompose. These isotopes allow scientists to probe the precise internal processes that govern other extremely long-lived isotopes. New research is helping scientists improve the structures they use to calculate half-lives and other nuclear properties, such as the structure of protons/neutrons within the nucleus.

Using background subtraction/simulation techniques pioneered in other ton-scale nuclear decay experiments, the scientists extracted the energy spectrum of the outgoing electrons from In-115 decays that occurred within a LiInSe2 crystal. At the same time, the scientists also performed the world’s most precise measurement of the decay rate of In-115. This work expands scientific understanding of nuclear structure and paves the way for future experiments to probe nuclear structure for a variety of isotope sizes.

The physical processes that drive the decay rate of medium-sized nuclei are difficult for scientists to probe. This is due to the large number of intermediate nuclear energy states. This study shows the feasibility of extracting clean electron (beta) energy spectra from various long-lived nuclei using low-temperature crystal detectors.

The research allows scientists to reduce the uncertainties related to the intermediate energy states that play a role in long-lived nuclei. This would then allow for better modeling of complex nuclear systems, such as the double beta decay of tellurium-130. Reducing these uncertainties plays a key role in improving the performance of other Department of Energy-sponsored ton-scale nuclear decay experiments.

A collaboration between the University of California-Berkeley, Massachusetts Institute of Technology, Jyvasklya University in Finland, Paris-Saclay University and RMD Inc. has commissioned a new LiInSe2 detector to explore the possibility of high-quality, low-background bolometric detectors for use in nuclear decay model verification.

The researchers collected data at temperatures close to absolute zero to detect and record the smallest temperature peaks due to particle interactions, such as those of In-115 beta decays, using highly sensitive thermometers. The study rejected background events such as external gamma rays using a combination of particle simulations and close examination of the individual decays recorded.

The result was a clean In-115 decay spectrum of the emitted electrons. Scientists at the University of California at Berkeley compared this spectrum to a library of predicted spectra generated at the University of Jyvaskyla and found the predicted spectrum most closely matched the collected data. This extracted the most precise measurement to date of the decay rate of In-115. This measurement opens the door to a better understanding of the physics governing the decays of extremely long-lived isotopes, such as tellurium-130.

The work is published in the journal Physical Review Letters.

More information:
AF Leder et al, Determination of gA/gV with high resolution spectral measurements using a LiInSe2 bolometer, Physical Review Letters (2022). DOI: 10.1103/PhysRevLett.129.232502

About the magazine:
Physical Review Letters

#Precision #Nuclear #Physics #Indium115 #Beta #Decay #Spectrum #Cryogenic #Detectors