Throughout his life, David Schleifer, 38, has suffered from an array of seemingly unrelated medical conditions:\u00a0digestive issues, eye problems, heart defects, joint pain, neurodevelopmental delays. \u201cIf anybody could have a problem, it would be my son,\u201d David\u2019s mother, the philanthropist Harriet Schleifer, told eJewishPhilanthropy last week.\u00a0<\/p>\n
Until recently, all of those symptoms were treated as distinct, inexplicable problems. \u201cI\u2019ve had more than 30 years of going to doctors and specialists and therapists, and each specialist looked at him through the lens of that one specialty. Nobody could put his whole thing together,\u201d she said.<\/p>\n
And then, about five years ago, someone recommended screening David\u2019s DNA. \u201cThe results showed a very rare genetic mutation that had been discovered only about two years before we sequenced him,\u201d recalled Schleifer, who currently serves as chair of the Conference of Presidents of Major American Jewish Organization and has in the past served in top roles in the American Jewish Committee and other Jewish communal groups.<\/p>\n
The genetic mutation is known as Transketolase (TKT) deficiency, and it appears to be most common among Ashkenazi Jews.\u00a0<\/p>\n
So far, only nine cases of TKT deficiency have been diagnosed, with a few more possible cases, but Schleifer and her husband, Leonard, the co-founder of the biotech firm Regeneron, are looking to change that. In January, they funded a program at Yale University focused on the disorder and are working to raise awareness of it in order to find other people who may unknowingly have the mutation. \u201cWe need to identify who else in the world \u2014\u00a0and there have to be more than nine individuals \u2014\u00a0has this but don\u2019t know that they have this because they haven\u2019t gone through genetic sequencing,\u201d she said.\u00a0<\/p>\n
This is particularly true for adults who have been living with the disorder for their entire lives without knowing that it was due to one specific cause. \u201cIt\u2019s more likely that [children] will have their DNA sequenced just because of technology today,\u201d she said.<\/p>\n
The program,\u00a0led by Drs. Andrew Wang and Anna Szekely,\u00a0only recently received the final approvals that it needed to open publicly and put up a website with information about the disorder.<\/p>\n
Through the Yale Transketolase Deficiency Program, the Schleifers hope to better understand the disorder and share that information with doctors and researchers around the world and also develop new treatments for it. \u201cThis will be open source,\u201d she said. \u201cThis can be open to collaborative work with a lot of other universities and scientists. It will not be held close to the vest by Yale. It will work with other organizations because it\u2019s meant to be a public service,\u201d she said.\u00a0<\/p>\n
Schleifer added that through their funding, people who are diagnosed with the disorder will have their clinical care provided by Yale.\u00a0<\/p>\n
Schleifer explained that she and her husband funded this center at Yale because her son lives in a nearby community for people with disabilities and his doctors are affiliated with the university.\u00a0<\/p>\n
\u201cMy hope is that we can get a cure for it,\u201d Schleifer said, noting the recent advancements in gene therapies, including by her husband\u2019s company, which have cured babies of hereditary conditions. She added that this would likely not be an option for adults who have lived with TKT Deficiency, as it would have already had a lasting effect on their bodies.<\/p>\n
\u201cSo in the future, there is hope that we can get to relieve people of growing up with this and their family. I can only tell you, the impact on the family is so great because you spend your whole life focused on the most vulnerable person in the family. \u2026 And if you could relieve future people of this, it would be a mitzvah,\u201d she said.\u00a0<\/p>\n
Since the disorder was only recently discovered, doctors do not yet know basic things, like how it affects longevity, she noted.\u00a0<\/p>\n
People suffering from the disorder who don\u2019t know it may not be getting the proper kind of care that they need as their doctors don\u2019t realize the true metabolic nature of their symptoms, Schleifer added.\u00a0<\/p>\n
\u201cWe know that there are implications for whether we can introduce [biologic medications] to tamp down the inflammation. There are also digestive issues associated with this. We could try to give them enzymes before they eat so their bodies can better metabolize food,\u201d she said. Without that, people with TKT do not seem to properly absorb nutrients from food and, as a result, do not develop normally.\u00a0<\/p>\n
Through her extensive connections in the Jewish communal world, Harriet Schleifer also hopes to raise more awareness about the mutation, to have it included in Jewish genetic screenings and to ensure that medical-focused Jewish organizations are aware of it so that they can direct people to specialists.<\/p>\n