C4K Welcomes Dr. Mark Nunes, Nevada’s First Full-Time Family Geneticist

January 22, 2025

LAS VEGAS – January XX, 2025 – In a continuing effort to bring essential medical specialties to the people of Nevada, Cure 4 The Kids Foundation (C4K) is proud to welcome Mark Eugene Nunes, MD, the state’s first full-time family geneticist.

As C4K’s Director of Genetics, Genomics, and Metabolism, Dr. Nunes will see families , children and adults with genetic disorders who previously were forced to travel out of state to access these highly individualized medical diagnostic and treatment services.

There are around 20,000 genes or instructions in every person determining how their body is made and functions. A problem with just one of these genes is sufficient to cause one of around 7,000 rare genetic or heritable disorders. Utilizing his decades of expertise, Dr. Nunes will assist in the recognition, evaluation, diagnosis, management, and treatment of these inherited disorders. Working closely with Genetic Counselors, Dr. Nunes helps families understand the implications of genetic test results, and the chance an inherited disorder may recur in a family. Geneticists provide resources for and teach families, their healthcare providers, and specialists about the implications of a  rare disorder. As a Genomics specialist, Dr. Nunes can help guide how an individual’s genetic profile can influence their risk and management of rare and common health conditions and is already working with the Nevada Rare Disease Advisory Council to use genomics in public health.

“This is truly a game changer for our community,” said Annette Logan-Parker, Founder and Innovation and Advocacy Officer at Cure 4 The Kids Foundation. “The expanding field of genetics and genomics offers incredible insight for our medical staff and, ultimately, our pediatric and adult patients.  Until now, these services were only available to Nevadans on a limited basis. With Dr. Nunes now part of C4K, this is a win for our current and future patients as well as for the State of Nevada.”

Dr. Nunes is board-certified in both Pediatrics and Clinical and Molecular Genetics. Most recently, he served as Director of Medical Genetics and Metabolism at Valley Children’s Hospital in Madera, California. His role included the supervision of State-sponsored prenatal genetic clinics and the creation of specialized multidisciplinary clinics focused on cardiogenetic and neurogenetic cases. Dr. Nunes helped successfully lobby the California Department of Public Health to expand non-invasive prenatal testing (NIPT) for all pregnant women in California and helped pilot prenatal whole genome sequencing (WGS).

Before Valley Children’s Hospital, Dr. Nunes was Division Chief of Medical Genetics at Kaiser Permanente in San Diego and a partner physician at Southern California Permanente Medical Group. Dr. Nunes’ first genetics job out of training was as an active-duty Pediatrician and Clinical Geneticist in the Air Force, where he also directed the USAF Molecular Diagnostic Laboratory. He helped successfully petition the Surgeons General in cases of genetic discrimination in the military, which helped inform the Genetics Information Nondiscrimination Act (GINA) of 2008.

Dr. Nunes brings a wealth of knowledge with more than two decades of experience in appointed academic roles specializing in Pediatrics and Genetics at the University of California, San Diego (UCSD), Ohio State University, Uniformed Services University of Health Sciences in Maryland, and the University of Washington

As a thought leader in the field of Genetics and Genomics, Dr. Nunes has shared his research and experience in multiple peer-reviewed journals including Human Genetics, American Journal of Human Genetics and Human Molecular Genetics, and the National Library of Medicine sponsored website, GeneReviews.

Dr. Nunes earned his medical degree from the F. Edward Herbert School of Medicine at Uniformed Services University of the Health Sciences in Maryland and completed his internship and residency in Pediatrics at the David Grant US Air Force Medical Center. He completed fellowships in Clinical Genetics, Molecular (DNA Laboratory) Genetics, and Teratology at the University of Washington and Child Protection and Forensic Pediatrics at Inova Fairfax Hospital for Children in Virginia.

Dr. Nunes was born in England to a U.S. Air Force airman and base Librarian and raised in Hawaii and Northern California. Nunes and his wife have been married for 25 years and are raising four children.

Hemophilia Patient Receives FDA Approved Gene Therapy Treatment

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

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

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

DIREGC07005 Pompe

Genetics

Protocol:DIREGC07005

Condition or Disease: Pompe

Study Type: Observational

Status: Open for enrollment

Study Title: Pompe Registry

Principal I investigator: Alan Ikeda, MD

More Info: //clinicaltrials.gov/ct2/show/NCT00231400