Tag: Genetics

NSBoME Seeks Genetic Counseling Advisory Council Representative

Posted on by Jennifer Glover

Key Takeaways:

  • The Nevada State Board of Medical Examiners (NSBoME) is seeking a public, non-medical representative to serve on its Genetic Counseling Advisory Council
  • With the passage of SB189, Nevada is implementing new licensure and oversight for genetic counselors
  • Clinical expertise is important, but so is that of patients and other public representatives with lived experience

If You’ve Ever Said, “Patients Deserve a Seat at the Table,” This is That Seat

We say it often in healthcare conversations—sometimes in frustration, sometimes in hope:
 
“Patients deserve a seat at the table.”
 
Right now, Nevada has an open chair, and no one from the public has stepped into it yet.
 
The Nevada State Board of Medical Examiners is seeking a public (non-medical) representative to serve on its Genetic Counseling Advisory Council. While applications have been submitted by licensed professionals, no application has been received from someone representing the public—the very perspective this seat was created to bring forward.

How We Got Here and Why It’s Important

With the passage of SB189, Nevada is implementing new licensure and oversight for genetic counselors. These decisions will shape how genetic counseling is delivered across the state for years to come.
 

Genetic counseling touches some of the most personal moments in a family’s life, including:

  • Cancer diagnosis and treatment decisions
  • Rare disease identification
  • Newborn screening and early intervention
  • Predictive and preventive health planning
Policy decisions made now will influence access, quality, and patient experience long into the future.

Why the Public Voice is Essential

Clinical expertise is critical, but it is not complete on its own. Public representatives bring lived experience, community context, and accountability to advisory bodies. They ask different questions, notice different gaps, and help ensure that regulations remain grounded in real-world impact—not just theory or workflow.
 
This role is not about opposing medical expertise. It is about balancing it.
 

Who Should Consider Applying

This position is intentionally designed for someone outside the medical profession. Strong candidates may include:
 
  • Patients or parents who have navigated cancer or rare disease diagnoses
  • Caregivers who understand the human impact of clinical decisions
  • Community leaders or advocates focused on health equity
  • Nevadans who believe public trust is strengthened through inclusion

If you’ve ever found yourself explaining medical information, advocating for a loved one, or asking, “How will this affect families?” you are already bringing the perspective this council needs.

Annette Logan-Parker

Why This Matters to Me

At Cure 4 The Kids Foundation, we see every day how regulatory decisions ripple into exam rooms, infusion chairs, and family kitchens. When patients and the public are included early—before policies are finalized—the result is stronger governance, better outcomes, and greater trust.
 
This advisory council seat is not symbolic.
 
It is influential.
 
And it is open right now.

How to Apply

Interested individuals should submit:
 
*A resume or CV
*A brief statement of interest
 
Send materials to:

Sarah A. Bradley, JD, MBA
Deputy Executive Director
Nevada State Board of Medical Examiners
bradleys@medboard.nv.gov
 
Applications will be reviewed later this month.

A Final Invitation

We often talk about patient-centered care. This is patient-centered governance.
 
As I said at the beginning, if you—or someone in your network—has ever said, “Patients deserve a seat at the table,” please understand that this is that very seat and your perspective is needed.
 
Please apply or help spread the word across Nevada.

About the Author: Annette Logan-Parker brings over 30 years of experience in pediatric oncology to her role as Founder and Chief Advocacy & Innovation Officer at Cure 4 The Kids Foundation. She has dedicated her career to improving outcomes for children with cancer and ensuring equitable access to cutting-edge treatments for all families.

Nevada Rare Disease Legislation: NV SB189 and SB348 Explained

Posted on by Jennifer Glover

Key Takeaways:

  • Nevada passed two major rare disease bills in 2025: SB189 (genetic counseling licensure) and SB348 (newborn screening modernization).
  • SB189 establishes licensing for genetic counselors and recognizes genetic counseling as a reimbursable medical service in Nevada.
  • SB348 modernizes Nevada’s newborn screening program by updating the funding model and requiring separate Medicaid reimbursement.
  • The Nevada Rare Disease Advisory Council (NV-RDAC), chaired by Annette Logan Parker, led the advocacy efforts for both bills.
  • Together, these bills create a comprehensive system connecting early detection, diagnosis, and treatment for rare diseases in Nevada.
  • More than 30 million Americans live with rare diseases, including thousands of Nevada families who previously faced limited local resources.

What is Nevada Rare Disease Legislation?

Nevada rare disease legislation are state laws designed to improve diagnosis, treatment, and access to care for families affected by rare diseases. In 2025, Nevada made historic progress with the passage of two landmark bills: Senate Bill 189 and Senate Bill 348.

These bills represent Nevada’s commitment to building a healthcare system where early detection, affordable access, and coordinated care are standard—not luxuries. For Nevada’s rare disease community, this legislation marks a turning point in how the state supports its most medically complex patients.

Why Does Nevada Need Rare Disease Legislation?

One in ten Americans—more than 30 million people—lives with a rare disease. In Nevada, families facing rare disease diagnoses have historically encountered significant barriers: delayed diagnoses, limited treatment options, and fragmented care systems.

According to the National Organization for Rare Disorders (NORD) 2024 State Report Card, Nevada ranked in the middle tier of states for rare disease support. While not failing, Nevada had clear opportunities to lead. The challenge was building infrastructure for early detection, ensuring affordable access, and creating coordinated care pathways.

The 2025 legislative session changed that trajectory, and the impact on 2026 and beyond is profound.

What is SB189 in Nevada?

Senate Bill 189, sponsored by Senator Roberta Lange, establishes Nevada’s first licensing framework for genetic counselors. Genetic counselors are healthcare professionals who help families understand genetic test results and make informed decisions about their care.

What SB189 Does

SB189 creates professional licensure and regulation for genetic counselors in Nevada, ensuring families receive expert guidance when interpreting genetic testing results. The bill recognizes genetic counseling as a reimbursable medical service, making this specialized care accessible and affordable for Nevada families.

Before SB189, Nevada patients often had to seek genetic counseling expertise out of state. Now, licensed genetic counselors can practice locally, and their services are covered by insurance.

Why SB189 Matters

For families receiving newborn screening results or rare disease diagnoses, genetic counseling translates complex medical data into actionable answers. SB189 ensures that Nevada has the professional workforce needed to support families from diagnosis through treatment decisions—turning uncertainty into understanding.

What is SB348 in Nevada?

Senate Bill 348, sponsored by Senator Julie Pazina, modernizes Nevada’s newborn screening program. Every baby born in Nevada is tested for dozens of life-threatening genetic and metabolic conditions that are treatable when caught early.

What SB348 Does

SB348 updates Nevada’s decade-old newborn screening funding model to reflect rising costs and new technologies. The bill increases the newborn screening fee from $81 to $122 in 2025 and $150 in 2026. Critically, SB348 requires Medicaid to reimburse newborn screening separately from delivery care, ensuring hospitals and labs receive fair payment while protecting families from unexpected costs.

Why SB348 Matters

Nevada’s newborn screening program was at risk of falling behind due to outdated funding and expiring federal grants. SB348 ensures every Nevada baby receives comprehensive screening for conditions that, when detected early, can mean the difference between lifelong complications and healthy development. For rare diseases, early detection is life-saving.

How Do SB189 and SB348 Work Together?

This new Nevada rare disease legislation isn’t just about passing individual bills—it’s about creating a comprehensive system of care. SB189 and SB348 work together to connect every step of the rare disease journey, from detection to diagnosis to treatment.

Focus Area

SB189 (Genetic Counseling)

SB348 (Newborn Screening)

Early Detection

Licenses genetic counselors to interpret results

Expands and sustains newborn screening program

Access & Coverage

Recognizes counseling as a reimbursable service

Ensures Medicaid reimbursement for screening

Quality & Oversight

Strengthens lab standards through licensure

Supports state lab sustainability with updated funding

Patient Support

Builds professional workforce for ongoing care

Detects conditions at birth for immediate intervention

Together, these bills create a pathway from screening to diagnosis, connecting Nevada families with the resources they need exactly when they need them.

Annette Logan-Parker
Annette Logan-Parker, Founder, Chief Advocacy, and Chief Innovation Officer at Cure 4 The Kids Foundation

Who Led Nevada’s Rare Disease Legislative Efforts?

The Nevada Rare Disease Advisory Council (NV-RDAC), chaired by Annette Logan-Parker, led the advocacy efforts that resulted in SB189 and SB348. Annette, who is also the Founder and Chief Advocacy & Innovation Officer of Cure 4 The Kids Foundation, worked with legislators, public health leaders, and community advocates to ensure rare disease priorities remained central throughout the legislative session.

The NV-RDAC’s collaborative approach—balancing fiscal responsibility with compassion and policy detail with human impact—ensured that the voices of Nevada families living with rare diseases were written directly into state law.

Learn more: Annette Logan-Parker reflects on being honored with the Nevada Cancer Coalition’s Advocacy Award for her dedication and advocacy. 

What’s Next for Rare Disease Care in Nevada?

Nevada’s 2025 legislative victories lay the groundwork for continued progress. Future priorities include:

  • Expanding Nevada’s newborn screening panel to include all 35 conditions recommended by the federal Recommended Uniform Screening Panel (RUSP)
  • Implementing Medicaid coverage for licensed genetic counseling services
  • Building an in-state Genetics and Rare Disease Center of Excellence
  • Reinstating automatic inflation indexing to sustain long-term lab growth

According to NORD’s latest data, Nevada now ranks among stronger-performing states in newborn screening (Grade B), step therapy protections (Grade A), and telehealth access. The state’s active RDAC continues driving measurable change.

Championing Policy That Puts Patients First

Nevada rare disease legislation demonstrates what’s possible when compassion and policy align. SB189 and SB348 don’t just represent two health bills—they represent a comprehensive system that connects hope to action and diagnosis to care.

For Nevada families affected by rare diseases, this legislation means earlier answers, better access, and a healthcare system designed to support them from day one. For advocates and policymakers, it’s proof that strategic, collaborative leadership can transform healthcare systems and create lasting change.

Nevada is no longer following national trends in rare disease care. Today, we’re proud to say our great state is creating its own roadmap, one that puts patients and families first.

Cure 4 The Kids strengthens pediatric care in Nevada with new geneticist

Posted on by David Frye

By Grace Da Rocha (contact)
Saturday, March 8, 2025 | 2 a.m.

Doctor Mark Eugene Nunes

Dr. Mark Nunes, a family geneticist who treats those at risk for genetic disorders or cancers, feels right at home in his new position in Las Vegas.

Nunes, who recently joined Cure 4 The Kids Foundation and is believed to be the first full-time geneticist in Nevada, will fill a void in the local medical community, his colleagues said.

“This is truly a game-changer for our community,” said Annette Logan-Parker, founder and chief innovation and advocacy officer at the foundation. “The rapidly advancing fields of genetics and genomics offer remarkable insights that will enhance our ability to provide individualized care for our pediatric and adult patients.”

Nunes’ more than two decades in the profession have taken him to Washington, Virginia, Ohio and California — where he most recently served as director of medical genetics and metabolism at Valley Children’s Hospital in Madera, Calif., overseeing state-sponsored prenatal genetic clinics and the creation of specialized multidisciplinary clinics focused on the genetic causes of cardiovascular and neurological conditions.

He is bringing that expertise here.

“(Genetics) is a fantastic specialty,” Nunes said. “It’s a little bit psychiatric; it’s a little bit interpreting weird genetic language into something that families and patients are able to understand; it’s a little bit of social work; it’s a little bit of cutting-edge therapy and treatment and being aware of what the new developments are.”

Nunes said he would help families, children and adults with genetic disorders who were previously forced to travel out of state for medical diagnosis and treatment services.

There are over 7,000 known rare diseases, which are defined as conditions affecting fewer than 200,000 individuals in the United States, according to the Nevada Rare Disease Advisory Council. An estimated 25 million to 30 million Americans live with a rare disease, with around 50% of them being children who could later experience challenges in diagnosis, treatment and quality of life for themselves and their families.

In Nevada, there’s no readily available data on the prevalence of rare diseases, but the Nevada Rare Disease Advisory Council has begun efforts to gather in-state data on these conditions.

Cure 4 the Kids Foundation — headquartered in Las Vegas on the Roseman University of Health Sciences campus — was founded in 2007 as a nonprofit health care facility treating and studying children with cancers and rare diseases.

The Nevada Rare Disease Advisory Council said treatment for rare diseases “can impose a substantial financial burden on individuals, families and health care systems,” creating a barrier for people to even receive care.

Dr. Joseph Lasky III, a medical director at Cure 4 the Kids, explained that the foundation had already been serving and caring for patients with genetic disorders when he started working with the organization in 2017. But there was never an in-house geneticist to guide patients on the management of their disease.

One family that Lasky is caring for frequently traveled from Las Vegas to Los Angeles for diagnostic testing and spinal tap treatments on their three sons, who live with Niemann-Pick disease Type C, a rare progressive genetic disorder where the body cannot transport cholesterol and other fatty substances inside of cells.

Before hiring Nunes, the organization was regularly relying on Dr. Nicola Longo from Utah, who still makes appearances at Cure 4 the Kids Foundation.

The waitlist for families seeking guidance on treatment from Longo soon went from six months to a year, and it’s been “continuously growing” ever since, Lasky said.

The waitlist wasn’t serving the community well, Cure 4 the Kids reasoned, and that became one of the main drivers for hiring an in-house family geneticist.

“With Dr. Nunes part of the Cure 4 the Kids Foundation team, these services are finally accessible to Nevadans on a full-time basis,” Logan-Parker said. “This is a significant win not only for our patients but also for the health care landscape of Nevada.”

Nunes hopes to embed himself within the medical community in the state, he said. In a constantly advancing field like genetics, having a group to discuss advancements, patient care and other important topics is crucial for learning.

Connecting the genetics community in Nevada could bring even more advancements to the field, allowing the state to “leapfrog” in medical infrastructure to treat those with rare conditions, he added.

Nunes wants to implement strategies for reaching patients in rural areas, and push for the licensure of genetic counselors — health care professionals who use family history to assess an individual’s risk for inherited conditions.

Lasky and Logan-Parker are confident that Nunes’ presence here will not only be a boon for Cure 4 the Kids Foundation and its patients, but the state as a whole.

“Since the population has really exploded here, we’re just simply getting more families and bigger communities here all the time, and so the need is that much greater,” Lasky said. “Having Nunes here now is just gonna make communication and the care of these families just so much better. He’s very passionate for the care of both children and adults with these diseases, and I think it totally fits with our mission to provide the best care for these families.”

Senator Rosen to bring Nevada teen reliant on Medicaid to Trump’s Congress address

Posted on by David Frye

U.S. Senator Jacky Rosen announced she will bring a Las Vegas teenager, Dominic Rampa, and his mother, Rebecca Ennis, to President Trump’s Joint Address to Congress Tuesday. Dominic, who has relied on Medicaid since childhood, requires the program to cover treatments for nine genetic disorders, including two immunodeficiencies and juvenile rheumatoid arthritis. Without Medicaid, his healthcare costs would exceed $200,000 annually.

“Since he was a young child, Dominic has relied on Medicaid to get the health care he needs to stay alive. This critical program is a lifeline for Dominic and his family, and I’m grateful to be joined by him and his mom at the Joint Address to Congress,” said Senator Rosen.

Rebecca Ennis, Dominic’s mother, emphasized the importance of Medicaid, saying, “Having a child with multiple rare diseases is very difficult. The cost is more than most people could afford, so losing Medicaid would cause my son to lose the treatments that keep him alive.”

Senator Rosen has been a vocal critic of Republican budget plans that propose cuts to Medicaid to fund tax breaks for the wealthy. She opposed a recent budget resolution that would reduce funding for programs like Medicaid and SNAP, which are vital for many Nevadans. Rosen urged President Trump to reject these legislative plans, which she argues would increase the cost of living for Americans.

Governor Joe Lombardo has expressed strong opposition to potential Medicaid cuts, warning of the severe impact on nearly 800,000 Nevadans who depend on the program. In a letter to Nevada lawmakers, Lombardo emphasized the critical role of Medicaid in supporting low-income individuals, children, seniors, and people with disabilities.

It comes after Congressional Republicans have eyed $880 billion in cuts to the committee that handles health care spending, including Medicaid. President Donald Trump and House Speaker Mike Johnson insist they won’t cut entitlement benefits, but experts say those targeted spending cuts won’t be possible without rollbacks to entitlement programs like Medicaid, which covers hundreds of thousands of people in the Silver State.

In a press conference outside the statehouse last week, state Senate Majority Leader Nicole Cannizzaro called on local congressional leaders to halt the proposed cuts. She noted that Nevada would be the third hardest-hit state in the country, with 50% of all births in the state covered by Medicaid. Cannizzaro warned that rural hospitals would be severely affected, and neonatal intensive care units (NICUs) in the state could face elimination.

Hemophilia Patient Receives FDA Approved Gene Therapy Treatment

Posted on by David Frye
Members of the Cure 4 The Kids Foundation medical team completed Nevada’s first successful gene therapy IV infusion for a hemophilia B patient.

July 31,2024 

Cure 4 The Kids Foundation (C4K) announced it has completed Nevada’s first successful infusion of Hemgenix®, a gene therapy option for adult patients with hemophilia B — a genetic bleeding disorder in which people do not produce a protein needed to create blood clots.

Depending on severity, a hemophilia B patient can require multiple infusions of factor IX on a weekly basis to prevent a bleed. However, after the one-time Hemgenix® infusion, the gene therapy is expected to enable the individual’s body to produce their own Factor IX, eliminating weekly infusions.

Under the medical supervision of Dr. Aimee Foord, director of C4K’s bleeding and clotting clinic along with Dr. Joseph Lasky, medical director of C4K and the entire C4K medical team, the infusion was completed in C4K’s infusion suite.

The patient, a 39-year-old male from Arizona, will be monitored on a regular basis to ensure the treatment’s success.

“This treatment is ground-breaking for a number of reasons,” said Annette Logan-Parker, chief innovation and advocacy officer at C4K. “Most importantly, Hemgenix® gives the patient a freedom from daily or weekly factor infusions they have not had since their original hemophilia diagnosis. From a larger perspective, being approved to provide this life-changing treatment is another example of how Cure 4 The Kids Foundation is bringing innovation and cutting-edge therapies to the patients of Nevada and the western United States.”

Hemgenix® (etranacogene dezaparvovec-drlb) is the first gene therapy for the treatment of adults with hemophilia B who currently use factor IX prophylaxis therapy, or have current or historical life-threatening bleeding, or have repeated, serious spontaneous bleeding episodes. Although Hemgenix® is not a cure for hemophilia B patients, the medical advancement may reduce, if not, eliminate weekly preventative factor replacement and bleeds.

Hemgenix® relies upon a gene transfer that is administered through intravenous (IV) infusion. The approach introduces a “working” or functional gene into liver cells to “instruct them” to produce factor IX protein, which is deficient in patients with hemophilia B, and which helps form blood clots to prevent prolonged, excessive or life-threatening bleeding.

Hemgenix® has the potential to fundamentally transform the treatment paradigm through a single, one-time infusion in people living with hemophilia B by addressing the genetic cause of the condition.

Because the genes that cause hemophilia A and B are located on the sex-determining X chromosome, the disorder disproportionately affects males. According to the U.S. Centers for Disease Control and Prevention (CDC), as many as 33,000 males in the United States are living with hemophilia. Hemophilia B is a rarer form of the disorder, found in just 3.7 cases per 100,000 males.

VTS-270-303 Niemann-Pick Disease, Type C

Posted on by admin

Genetics

Protocol:VTS-270-303

Condition or Disease: Niemann-Pick Disease, Type C

Study Type: Interventional (Clinical Trial)

Status: Opening Mid 2019

Study Title: An Open-label, Multicenter Safety and Tolerability Study of VTS-270 (2-hydroxypropyl-ë_-cyclodextrin) in Pediatric Subjects Aged < 4 Years With Neurologic Manifestations of Niemann-Pick Type C (NPC) Disease

Principal I investigator: Alan Ikeda, MD

More Info: //clinicaltrials.gov/ct2/show/NCT03687476

VTS-270-001 Niemann-Pick Disease, Type C

Posted on by admin

Genetics

Protocol:VTS-270-001

Condition or Disease: Niemann-Pick Disease, Type C

Study Type: Expanded Access

Status: Open for enrollment

Study Title: An Open-label Expanded Access Treatment Protocol for VTS-270 (2-hydroxypropyl-ë_-cyclodextrin) in Patients With Neurologic Manifestations of Niemann-Pick Type C Disease (NPC)

Principal I investigator: Alan Ikeda, MD

More Info: //clinicaltrials.gov/ct2/show/NCT03643562