Connections Lead to Research

SOUTHERN CALIFORNIA GATHERING A SUCCESS!

CaliforniaThe Third Annual Southern California Kabuki Syndrome Gathering took place on June 28th, 2014 in sunny Torrance, California. 

Jodie and Rick Esponda coordinated a wonderful gathering where seventeen families were able to connect and learn, and individuals with Kabuki Syndrome from ages 4 to 26 played and had fun together. Throughout the day, families were encouraged to play in a room set up with a large bounce house, art projects, movies and games.  A delicious catered lunch was brought in and attendees enjoyed an ice cream sundae bar in the afternoon. 

Many thanks go out to the Espondas for planning the event, to the volunteers at the Coastal Christian Fellowship for all of their help, and to Dr. Bjornsson and Dr. Weissman for flying in to share their expertise and consult with families.  Thanks also to all the attendees for caring so much about their loved ones with Kabuki.  We all share so much in common and gain support, knowledge and ideas by attending events like these.

Exciting Speakers and Research

Dr. Hans Bjornsson (Genetics) and Dr. Jacqui Weissman (Neuropsychology) from the Epigeneticsi and Chromatini Clinic at Johns Hopkins Hospital attended.  While Dr. Bjornsson gave a presentation and participated in the Q&A, Dr. Weissman met with individuals and their parents to gather baseline cognitive and behavioral research.

Dr. Bjornsson spoke about new research using an approved cancer drug, an H-DAC inhibitor, to compensate for the defective “highlighter” in mice with a deletion of MLL2 (MLL2 is thought to help turn on specific genesi by adding a histonei modification seen in open chromatin). This resulted in treated mice performing at the same (or better) levels as wild mice in certain cognitive tasks. The next step in the research will be to implement the same mouse model studies among KDM6A-mutation affected mice (fixing the broken “eraser” on closed chromatin genes instead).

Now that the MLL2 and KDM6A genes have been identified as the cause of Kabuki syndrome, and that Exomei Sequencing is widely available and leading to the diagnosis of many patients with changes in these genes, it is the perfect time for therapeutic development for Kabuki syndrome. Dr. Bjornsson mentioned that these results should be taken with a grain of salt since often it is hard to transition observations from mice to humans.  He also pointed out that while academic research to get a promising lead in mice to human trials and eventual therapy could take a decade or more, the medical/drug industry could accelerate this process due to extra resources.

Dr. Bjornsson’s research will be published in coming months.  That paper will be published on this site once it is available.

Cameron Stewart, a pediatric Physical Therapist spoke about PT services for kids with Kabuki and how those services work in collaboration with the broader team of professionals.  She recommended tools such as bumpy seats, visors for baths/showers, and chewy necklaces/pencil toppers.  Cameron has offered up her contact information for those with questions.

How to Get Involved

This new frontier in Kabuki Syndrome research highlights the importance of increasing awareness of Kabuki Syndrome among medical professionals and growing our fundraising efforts.  The more that professionals are aware of the syndrome, the more they would like to study it and support research. If you would like to get involved in supporting these causes, below are ways you can help.

1.  Participate in research studies/have your geneticist send DNAi samples

  • Dr. Bjornsson’s and Dr. Weissman’s clinic, the McCusik-Nathans Epigenetics and Chromatin Clinic at Johns’ Hopkins Hospital is also open to seeing new patients.  This clinic is dedicated to and specializes in patients with Kabuki and similar syndromes. The clinic partners with Kennedy Krieger Institute to provide a team based approach. Patients may also have the option to participate in research during a clinic visit.
  • Dr. Bjornsson also mentioned the medical concerns found below are common among individuals and may benefit from treatment by a specialist .

2.  Fundraise:  Organize a local 5K or sale and donate the proceeds to research, the Kabuki Syndrome Network or any of the Kabuki organizations across the world (the U.S., U.K., Holland, France, Australia, Japan all have networks/chapters)

  • Click here to donate to Dr. Bjornsson’s lab.  Choose the other designation box and specify that the money is to go to Bjornsson lab, gift account number 80032119.  If you do not specify where you want the money to go, the institute will simply absorb the money and Dr. Bjornsson will not receive it.
  • Thank you to those who donated to the S. Cal event and raised $1,100 to go towards volunteer gifts and Dr. B’s travel expenses.  Thanks also to all those who contributed to Dr. B’s research in the spring of 2014.
  • Organize and attend meetings/conferences: If you weren’t able to attend the S. Cal conference, here is a list of upcoming events

3.  Lobby for the cause and increase awareness among professionals

 COMMON CLINICAL FEATURES OF KABUKI SYNDROME 

Dr. Bjornsson from John’s Hopkins Hospital, who studies Kabuki syndrome, has observed following clinical observations among Kabuki syndrome patients and suggested that patients consider seeing specialists in these areas.  Families may also find this brochure handy as a quick reference. 

  • Audiology: due to hearing loss associated with the syndrome and chronic ear infections we recommend frequent audiology evaluations.  Hearing loss can limit language development and it is important to consider this possibility.
  • Immunology: Immune dysregulation can occur at any time during the life span of an individual with KS, either as an immune deficiency or as autoimmunity.
  • Cardiology: Individuals with Kabuki Syndrome have been seen to have multiple heart defects/issues, and should all have echocardiograms.  During the echo it is important to visualize the aortai to rule out coarctationi.
  • Neuropsychology: to evaluate strengths and weaknesses in problem solving, and offer an individualized educational plan.
  • Ophthalmology: A multitude of eye structure and vision acuity problems have been observed and it is worth having a detailed eye examination at least once.
  • Orthopedics: for hip problems (hip dislocation) and spine problems (scoliosisi).
  • Feeding Clinics: for cleft, refluxi, etc.
  • Rheumatology:  for Arthritis if it occurs (often in adulthood)
  • Nephrology: It is worth having a renali ultrasound at least once to look for anatomic defects of the kidney.